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    MEF2C myocyte enhancer factor 2C [ Homo sapiens (human) ]

    Gene ID: 4208, updated on 16-Dec-2024

    Summary

    Official Symbol
    MEF2Cprovided by HGNC
    Official Full Name
    myocyte enhancer factor 2Cprovided by HGNC
    Primary source
    HGNC:HGNC:6996
    See related
    Ensembl:ENSG00000081189 MIM:600662; AllianceGenome:HGNC:6996
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NEDHSIL; DEL5q14.3; C5DELq14.3
    Summary
    This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
    Expression
    Broad expression in brain (RPKM 55.2), lymph node (RPKM 17.7) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MEF2C in Genome Data Viewer
    Location:
    5q14.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (88717117..88904105, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (89198250..89385215, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (88012934..88199922, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MIR9-2 host gene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:87967483-87968095 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:87968096-87968709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22758 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:87971545-87972110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:87975792-87976292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:87981074-87981697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:87980449-87981073 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:87985094-87985772 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:87985773-87986452 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:87987008-87987234 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:87991751-87992730 Neighboring gene MEF2C antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22762 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:88039231-88040430 Neighboring gene microRNA 9-2 Neighboring gene glioma stem cell association long noncoding RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22764 Neighboring gene Sharpr-MPRA regulatory region 14259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:88185154-88185690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:88185691-88186225 Neighboring gene MEF2C antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 5119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16165 Neighboring gene VISTA enhancer hs503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22773 Neighboring gene VISTA enhancer hs789 Neighboring gene uncharacterized LOC105379074 Neighboring gene uncharacterized LOC105379073

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 20
    MedGen: C3150700 OMIM: 613443 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    Little evidence for dosage pathogenicity (Last evaluated 2020-02-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-02-26)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
    EBI GWAS Catalog
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    EBI GWAS Catalog
    Genetic loci for retinal arteriolar microcirculation.
    EBI GWAS Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm.
    EBI GWAS Catalog
    Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables minor groove of adenine-thymine-rich DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_negative_effect AMPA selective glutamate receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in B cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in B cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in B cell receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_negative_effect NMDA selective glutamate receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood vessel remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac ventricle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell morphogenesis involved in neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to fluid shear stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to parathyroid hormone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to trichostatin A ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to xenobiotic stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endochondral ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial cell proliferation involved in renal tubule morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in germinal center formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glomerulus morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in humoral immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in learning or memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in melanocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in muscle cell fate determination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in myotube differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in negative regulation of blood vessel endothelial cell migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of ossification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of vascular associated smooth muscle cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of vascular associated smooth muscle cell migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of vascular associated smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of vascular associated smooth muscle cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of vascular endothelial cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in nephron tubule epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neural crest cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in platelet formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of B cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of alkaline phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of behavioral fear response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cardiac muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of macrophage apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of myoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of skeletal muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in primary heart field specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of dendritic spine development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of germinal center formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of megakaryocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synaptic activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synaptic transmission, glutamatergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in renal tubule morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to ischemia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in secondary heart field specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sinoatrial valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular cardiac muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    myocyte-specific enhancer factor 2C
    Names
    MADS box transcription enhancer factor 2, polypeptide C

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023427.1 RefSeqGene

      Range
      25922..191989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001131005.2NP_001124477.1  myocyte-specific enhancer factor 2C isoform 2

      See identical proteins and their annotated locations for NP_001124477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC008525, AL833268, AL833274, BP231922, L08895
      Consensus CDS
      CCDS47244.1
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000389610.2, ENST00000424173.6
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97150
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    2. NM_001193347.1NP_001180276.1  myocyte-specific enhancer factor 2C isoform 3

      See identical proteins and their annotated locations for NP_001180276.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is longer than isoform 1.
      Source sequence(s)
      AC008525, AL833268, AL833274, BP231922, L08895
      Consensus CDS
      CCDS54878.1
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000340874.5, ENST00000340208.9
      Conserved Domains (3) summary
      COG5068
      Location:1263
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:117170
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    3. NM_001193348.1NP_001180277.1  myocyte-specific enhancer factor 2C isoform 4

      See identical proteins and their annotated locations for NP_001180277.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AC008525, AL833268, FM163484, L08895
      Consensus CDS
      CCDS54877.1
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000487311.1, ENST00000628656.2
      Conserved Domains (2) summary
      COG5068
      Location:1229
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    4. NM_001193349.3NP_001180278.1  myocyte-specific enhancer factor 2C isoform 5

      See identical proteins and their annotated locations for NP_001180278.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 5), compared to isoform 1. Variants 5 and 12 both encode the same isoform (5).
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS78030.1
      UniProtKB/TrEMBL
      B2R681, D8L7E9
      Conserved Domains (1) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    5. NM_001193350.2NP_001180279.1  myocyte-specific enhancer factor 2C isoform 1

      See identical proteins and their annotated locations for NP_001180279.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 6, and 9-11 all encode the same isoform (1).
      Source sequence(s)
      AC008525, AL833268, BC026341, L08895
      Consensus CDS
      CCDS47245.1
      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000396219.2, ENST00000437473.6
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    6. NM_001308002.3NP_001294931.1  myocyte-specific enhancer factor 2C isoform 6

      See identical proteins and their annotated locations for NP_001294931.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1. Variants 7 and 13 both encode the same isoform (6).
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS78034.1
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000423597.2, ENST00000508569.5
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    7. NM_001363581.2NP_001350510.1  myocyte-specific enhancer factor 2C isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 1. The resulting isoform (7) has a shorter and distinct C-terminus compared to isoform 1. Variants 8 and 14-17 all encode the same isoform (7).
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS87313.1
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    8. NM_001364329.2NP_001351258.1  myocyte-specific enhancer factor 2C isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 1, 6, 10, and 11, encodes isoform 1.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS47245.1
      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    9. NM_001364330.2NP_001351259.1  myocyte-specific enhancer factor 2C isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 1, 6, 9, and 11, encodes isoform 1.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS47245.1
      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    10. NM_001364331.2NP_001351260.1  myocyte-specific enhancer factor 2C isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 1, 6, 9, and 10, encodes isoform 1.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS47245.1
      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    11. NM_001364332.2NP_001351261.1  myocyte-specific enhancer factor 2C isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variant 5, encodes isoform 5.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS78030.1
      UniProtKB/TrEMBL
      B2R681, D8L7E9
      Related
      ENSP00000487184.1, ENST00000626391.2
      Conserved Domains (1) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    12. NM_001364333.2NP_001351262.1  myocyte-specific enhancer factor 2C isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variant 7, encodes isoform 6.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS78034.1
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000490354.1, ENST00000637481.1
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    13. NM_001364334.2NP_001351263.1  myocyte-specific enhancer factor 2C isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 8, 15, 16, and 17, encodes isoform 7.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS87313.1
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    14. NM_001364335.2NP_001351264.1  myocyte-specific enhancer factor 2C isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 8, 14, 16, and 17, encodes isoform 7.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS87313.1
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000426665.2, ENST00000514028.5
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    15. NM_001364336.2NP_001351265.1  myocyte-specific enhancer factor 2C isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 8, 14, 15, and 17, encodes isoform 7.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS87313.1
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000424606.1, ENST00000514015.5
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    16. NM_001364337.2NP_001351266.1  myocyte-specific enhancer factor 2C isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 8, 14, 15, and 16, encodes isoform 7.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS87313.1
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000490630.1, ENST00000636998.1
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    17. NM_001364338.2NP_001351267.1  myocyte-specific enhancer factor 2C isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC008525, AC008835
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (3) summary
      COG5068
      Location:1263
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:117170
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    18. NM_001364339.2NP_001351268.1  myocyte-specific enhancer factor 2C isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variants 20, 21, and 22, encodes isoform 9.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS93740.1
      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
      Related
      ENSP00000422390.2, ENST00000510942.5
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    19. NM_001364340.2NP_001351269.1  myocyte-specific enhancer factor 2C isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), as well as variants 19, 21, and 22, encodes isoform 9.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS93740.1
      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    20. NM_001364341.2NP_001351270.1  myocyte-specific enhancer factor 2C isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21), as well as variants 19, 20, and 22, encodes isoform 9.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS93740.1
      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    21. NM_001364342.2NP_001351271.1  myocyte-specific enhancer factor 2C isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variants 19, 20, and 21, encodes isoform 9.
      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS93740.1
      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    22. NM_001364343.2NP_001351272.1  myocyte-specific enhancer factor 2C isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC008525, AC008835
      Consensus CDS
      CCDS93738.1
      UniProtKB/TrEMBL
      A0A0D9SFD0, B2R681
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97150
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    23. NM_001364344.2NP_001351273.1  myocyte-specific enhancer factor 2C isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC008525, AC008835
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (1) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    24. NM_001364345.2NP_001351274.1  myocyte-specific enhancer factor 2C isoform 12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (25), as well as variants 26 and 27, encodes isoform 12.
      Source sequence(s)
      AC008525, AC008835
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    25. NM_001364346.2NP_001351275.1  myocyte-specific enhancer factor 2C isoform 12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (26), as well as variants 25 and 27, encodes isoform 12.
      Source sequence(s)
      AC008525, AC008835
      Related
      ENSP00000425636.1, ENST00000506554.5
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    26. NM_001364347.2NP_001351276.1  myocyte-specific enhancer factor 2C isoform 12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (27), as well as variants 25 and 26, encodes isoform 12.
      Source sequence(s)
      AC008525, AC008835
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    27. NM_001364348.2NP_001351277.1  myocyte-specific enhancer factor 2C isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (28), as well as variants 29 and 30, encodes isoform 13.
      Source sequence(s)
      AC008525, AC008835
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    28. NM_001364349.2NP_001351278.1  myocyte-specific enhancer factor 2C isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (29), as well as variants 28 and 30, encodes isoform 13.
      Source sequence(s)
      AC008525, AC008835
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    29. NM_001364350.2NP_001351279.1  myocyte-specific enhancer factor 2C isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (30), as well as variants 28 and 29, encodes isoform 13.
      Source sequence(s)
      AC008525, AC008835
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    30. NM_001364352.2NP_001351281.1  myocyte-specific enhancer factor 2C isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC008525, AC008835
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97150
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    31. NM_001364353.2NP_001351282.1  myocyte-specific enhancer factor 2C isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC008525
      UniProtKB/TrEMBL
      A0A0D9SGF3, A0A9L9PYA3
      Related
      ENSP00000516755.1, ENST00000707127.1
    32. NM_001364354.2NP_001351283.1  myocyte-specific enhancer factor 2C isoform 16

      Status: REVIEWED

      Description
      Transcript Variant: This variant (33), as well as variant 34, encodes isoform 16.
      Source sequence(s)
      AC008525, AC008835
      Conserved Domains (1) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    33. NM_001364355.2NP_001351284.1  myocyte-specific enhancer factor 2C isoform 16

      Status: REVIEWED

      Description
      Transcript Variant: This variant (34), as well as variant 33, encodes isoform 16.
      Source sequence(s)
      AC008525, AC008835
      Conserved Domains (1) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    34. NM_001364356.2NP_001351285.1  myocyte-specific enhancer factor 2C isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC008525
      UniProtKB/TrEMBL
      A0A0D9SGF3
      Related
      ENSP00000487437.2, ENST00000503554.4
    35. NM_001364357.2NP_001351286.1  myocyte-specific enhancer factor 2C isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC008525
      UniProtKB/TrEMBL
      A0A0D9SGF3
    36. NM_002397.5NP_002388.2  myocyte-specific enhancer factor 2C isoform 1

      See identical proteins and their annotated locations for NP_002388.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1, 6, and 9-11 all encode the same isoform (1).
      Source sequence(s)
      AC008525, AL833268, L08895
      Consensus CDS
      CCDS47245.1
      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000421925.5, ENST00000504921.7
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      88717117..88904105 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543396.4XP_011541698.1  myocyte-specific enhancer factor 2C isoform X1

      See identical proteins and their annotated locations for XP_011541698.1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    2. XM_017009478.3XP_016864967.1  myocyte-specific enhancer factor 2C isoform X4

      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97150
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    3. XM_047417190.1XP_047273146.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000486554.1, ENST00000629612.2
    4. XM_047417181.1XP_047273137.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    5. XM_047417202.1XP_047273158.1  myocyte-specific enhancer factor 2C isoform X4

      UniProtKB/TrEMBL
      B2R681
    6. XM_047417191.1XP_047273147.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    7. XM_047417182.1XP_047273138.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    8. XM_047417196.1XP_047273152.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    9. XM_047417203.1XP_047273159.1  myocyte-specific enhancer factor 2C isoform X4

      UniProtKB/TrEMBL
      B2R681
    10. XM_047417192.1XP_047273148.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    11. XM_047417194.1XP_047273150.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    12. XM_047417188.1XP_047273144.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    13. XM_047417217.1XP_047273173.1  myocyte-specific enhancer factor 2C isoform X8

      UniProtKB/TrEMBL
      B2R681
    14. XM_047417201.1XP_047273157.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    15. XM_047417185.1XP_047273141.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    16. XM_047417193.1XP_047273149.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    17. XM_005248511.4XP_005248568.1  myocyte-specific enhancer factor 2C isoform X1

      See identical proteins and their annotated locations for XP_005248568.1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    18. XM_024446058.2XP_024301826.1  myocyte-specific enhancer factor 2C isoform X2

      UniProtKB/TrEMBL
      A0A0D9SGI5, B2R681
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97150
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    19. XM_047417195.1XP_047273151.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    20. XM_024446055.2XP_024301823.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    21. XM_047417199.1XP_047273155.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    22. XM_047417186.1XP_047273142.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    23. XM_047417189.1XP_047273145.1  myocyte-specific enhancer factor 2C isoform X2

      UniProtKB/TrEMBL
      A0A0D9SGI5, B2R681
      Related
      ENSP00000487538.1, ENST00000625585.2
    24. XM_047417197.1XP_047273153.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    25. XM_047417183.1XP_047273139.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    26. XM_047417187.1XP_047273143.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    27. XM_047417198.1XP_047273154.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    28. XM_047417184.1XP_047273140.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
      Related
      ENSP00000490473.1, ENST00000636294.1
    29. XM_024446059.2XP_024301827.1  myocyte-specific enhancer factor 2C isoform X2

      UniProtKB/TrEMBL
      A0A0D9SGI5, B2R681
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97150
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    30. XM_047417200.1XP_047273156.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    31. XM_024446056.2XP_024301824.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
      Conserved Domains (2) summary
      COG5068
      Location:1245
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    32. XM_047417208.1XP_047273164.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    33. XM_047417213.1XP_047273169.1  myocyte-specific enhancer factor 2C isoform X7

      UniProtKB/TrEMBL
      A0A0D9SFD0, B2R681
      Related
      ENSP00000486490.1, ENST00000627659.2
    34. XM_047417206.1XP_047273162.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    35. XM_047417204.1XP_047273160.1  myocyte-specific enhancer factor 2C isoform X5

      UniProtKB/TrEMBL
      B2R681
    36. XM_047417214.1XP_047273170.1  myocyte-specific enhancer factor 2C isoform X7

      UniProtKB/TrEMBL
      A0A0D9SFD0, B2R681
    37. XM_047417207.1XP_047273163.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    38. XM_047417205.1XP_047273161.1  myocyte-specific enhancer factor 2C isoform X5

      UniProtKB/TrEMBL
      B2R681
    39. XM_047417210.1XP_047273166.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    40. XM_047417216.1XP_047273172.1  myocyte-specific enhancer factor 2C isoform X7

      UniProtKB/TrEMBL
      A0A0D9SFD0, B2R681
    41. XM_047417211.1XP_047273167.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    42. XM_047417209.1XP_047273165.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    43. XM_047417215.1XP_047273171.1  myocyte-specific enhancer factor 2C isoform X7

      UniProtKB/TrEMBL
      A0A0D9SFD0, B2R681

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      89198250..89385215 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352607.1XP_054208582.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    2. XM_054352626.1XP_054208601.1  myocyte-specific enhancer factor 2C isoform X4

      UniProtKB/TrEMBL
      B2R681
    3. XM_054352617.1XP_054208592.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    4. XM_054352599.1XP_054208574.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    5. XM_054352627.1XP_054208602.1  myocyte-specific enhancer factor 2C isoform X4

      UniProtKB/TrEMBL
      B2R681
    6. XM_054352618.1XP_054208593.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    7. XM_054352600.1XP_054208575.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    8. XM_054352623.1XP_054208598.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    9. XM_054352628.1XP_054208603.1  myocyte-specific enhancer factor 2C isoform X4

      UniProtKB/TrEMBL
      B2R681
    10. XM_054352619.1XP_054208594.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    11. XM_054352621.1XP_054208596.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    12. XM_054352611.1XP_054208586.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    13. XM_054352625.1XP_054208600.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    14. XM_054352603.1XP_054208578.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    15. XM_054352604.1XP_054208579.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    16. XM_054352612.1XP_054208587.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    17. XM_054352641.1XP_054208616.1  myocyte-specific enhancer factor 2C isoform X8

      UniProtKB/TrEMBL
      B2R681
    18. XM_054352615.1XP_054208590.1  myocyte-specific enhancer factor 2C isoform X2

      UniProtKB/TrEMBL
      A0A0D9SGI5, B2R681
    19. XM_054352605.1XP_054208580.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    20. XM_054352608.1XP_054208583.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    21. XM_054352616.1XP_054208591.1  myocyte-specific enhancer factor 2C isoform X2

      UniProtKB/TrEMBL
      A0A0D9SGI5, B2R681
    22. XM_054352601.1XP_054208576.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    23. XM_054352609.1XP_054208584.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    24. XM_054352610.1XP_054208585.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    25. XM_054352613.1XP_054208588.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    26. XM_054352602.1XP_054208577.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    27. XM_054352614.1XP_054208589.1  myocyte-specific enhancer factor 2C isoform X2

      UniProtKB/TrEMBL
      A0A0D9SGI5, B2R681
    28. XM_054352624.1XP_054208599.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/TrEMBL
      B2R681
    29. XM_054352606.1XP_054208581.1  myocyte-specific enhancer factor 2C isoform X1

      UniProtKB/Swiss-Prot
      C9JMZ0, D7F7N5, F8W7V7, Q06413
      UniProtKB/TrEMBL
      B2R681
    30. XM_054352633.1XP_054208608.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    31. XM_054352637.1XP_054208612.1  myocyte-specific enhancer factor 2C isoform X7

      UniProtKB/TrEMBL
      A0A0D9SFD0, B2R681
    32. XM_054352631.1XP_054208606.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    33. XM_054352629.1XP_054208604.1  myocyte-specific enhancer factor 2C isoform X5

      UniProtKB/TrEMBL
      B2R681
    34. XM_054352638.1XP_054208613.1  myocyte-specific enhancer factor 2C isoform X7

      UniProtKB/TrEMBL
      A0A0D9SFD0, B2R681
    35. XM_054352632.1XP_054208607.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    36. XM_054352630.1XP_054208605.1  myocyte-specific enhancer factor 2C isoform X5

      UniProtKB/TrEMBL
      B2R681
    37. XM_054352635.1XP_054208610.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    38. XM_054352640.1XP_054208615.1  myocyte-specific enhancer factor 2C isoform X7

      UniProtKB/TrEMBL
      A0A0D9SFD0, B2R681
    39. XM_054352636.1XP_054208611.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    40. XM_054352634.1XP_054208609.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5, B2R681
    41. XM_054352639.1XP_054208614.1  myocyte-specific enhancer factor 2C isoform X7

      UniProtKB/TrEMBL
      A0A0D9SFD0, B2R681