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    MYBPC2 myosin binding protein C2 [ Homo sapiens (human) ]

    Gene ID: 4606, updated on 27-Nov-2024

    Summary

    Official Symbol
    MYBPC2provided by HGNC
    Official Full Name
    myosin binding protein C2provided by HGNC
    Primary source
    HGNC:HGNC:7550
    See related
    Ensembl:ENSG00000086967 MIM:160793; AllianceGenome:HGNC:7550
    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
    MYBPC; MYBPCF; fsMyBP-C
    Summary
    This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]
    Expression
    Biased expression in prostate (RPKM 9.2), esophagus (RPKM 2.3) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYBPC2 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50432892..50466321)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53520453..53553838)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50936149..50969578)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50888337-50888838 Neighboring gene DNA polymerase delta 1, catalytic subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50918101-50918885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50918886-50919670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10966 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50921334-50921502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50930914-50931487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50931488-50932060 Neighboring gene Spi-B transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50935955-50936713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50937528-50938028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50954383-50954951 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50970469-50970655 Neighboring gene golgi associated RAB2 interactor 5A Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50979402-50979902 Neighboring gene ER membrane protein complex subunit 10 Neighboring gene MYBPC2 cis regulating lncRNA enhancer of myogenesis

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC163408

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in M band IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in myosin filament IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    myosin-binding protein C, fast-type
    Names
    fast MyBP-C
    fast skeletal-type muscle myosin-binding-protein C
    fast-type muscle myosin-binding-protein C
    myosin binding protein C, fast type
    testicular tissue protein Li 126

    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_028026.1 RefSeqGene

      Range
      4990..38419
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004533.4NP_004524.3  myosin-binding protein C, fast-type

      See identical proteins and their annotated locations for NP_004524.3

      Status: REVIEWED

      Source sequence(s)
      AA086285, AC020909, BC130536, CF553029
      Consensus CDS
      CCDS46152.1
      UniProtKB/Swiss-Prot
      A1L4G9, Q14324
      UniProtKB/TrEMBL
      A0A140VJQ0
      Related
      ENSP00000350332.4, ENST00000357701.6
      Conserved Domains (7) summary
      cd00096
      Location:10671132
      Ig; Immunoglobulin domain
      cd05748
      Location:857929
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      cd05894
      Location:550635
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00410
      Location:554635
      IG_like; Immunoglobulin like
      cd00063
      Location:639725
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:10481137
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:283330
      Ig; Immunoglobulin domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      50432892..50466321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      53520453..53553838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)