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    MBNL2 muscleblind like splicing regulator 2 [ Homo sapiens (human) ]

    Gene ID: 10150, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MBNL2provided by HGNC
    Official Full Name
    muscleblind like splicing regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:16746
    See related
    Ensembl:ENSG00000139793 MIM:607327; AllianceGenome:HGNC:16746
    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
    MBLL; MBLL39; PRO2032
    Summary
    This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in fat (RPKM 36.8), adrenal (RPKM 33.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MBNL2 in Genome Data Viewer
    Location:
    13q32.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (97141834..97394120)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (96345880..96600426)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (97794088..98046374)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124903196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:97784629-97785153 Neighboring gene uncharacterized LOC124903197 Neighboring gene long intergenic non-protein coding RNA 456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7887 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:97879323-97880105 Neighboring gene uncharacterized LOC107984573 Neighboring gene uncharacterized LOC101927385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7888 Neighboring gene Sharpr-MPRA regulatory region 6469 Neighboring gene FOXA motif-containing MPRA enhancer 219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5450 Neighboring gene RNA, 5S ribosomal pseudogene 37 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:98085607-98086538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5452 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:98090451-98090644 Neighboring gene NANOG hESC enhancer GRCh37_chr13:98101035-98101536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7893 Neighboring gene RAP2A, member of RAS oncogene family Neighboring gene proteasome subunit alpha 6 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Paradoxical overexpression of MBNL2 in hepatocellular carcinoma inhibits tumor growth and invasion. Lee YH, et al. Oncotarget, 2016 Oct 4. PMID 27564110, Free PMC Article
    2. Solution structure of the RNA binding domain in the human muscleblind-like protein 2. He F, et al. Protein Sci, 2009 Jan. PMID 19177353, Free PMC Article
    3. Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2. Carpentier C, et al. Biochim Biophys Acta, 2014 Apr. PMID 24440524
    4. Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Charizanis K, et al. Neuron, 2012 Aug 9. PMID 22884328, Free PMC Article
    5. Muscleblind-like 2 controls the hypoxia response of cancer cells. Fischer S, et al. RNA, 2020 May. PMID 32127384, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.
      Title: SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.
    2. MBNL2 Regulates DNA Damage Response via Stabilizing p21.
      Title: MBNL2 Regulates DNA Damage Response via Stabilizing p21.
    3. MBNL2 induction was critical for hypoxia adaptation by controlling the transcript abundance of hypoxia response genes, such as vascular endothelial growth factor A (VEGFA) MBNL2 depletion reduced the proliferation and migration of cancer cells, demonstrating an important role of MBNL2 as cancer driver.
      Title: Muscleblind-like 2 controls the hypoxia response of cancer cells.
    4. Functional depletion of the alternative splicing factors Muscleblind-like (MBNL 1 and 2) is at the basis of the neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We thus identify miR-23b and miR-218, and confirm that they downregulate MBNL proteins in this cell line.
      Title: miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models.
    5. Low MBNL2 expression is associated with hepatocellular carcinoma growth and invasion.
      Title: Paradoxical overexpression of MBNL2 in hepatocellular carcinoma inhibits tumor growth and invasion.
    6. Sense DMPK RNA foci clearly co-localize with MBNL1 and MBNL2 proteins and accumulate in myotonic dystrophy 1 tissues during development.
      Title: Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
    7. both MBNL1 and MBNL2 are involved in the regulation of Tau exon 2 splicing and the mis-splicing of Tau in DM1 is due to the combined inactivation of both
      Title: Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.
    8. consistent with a central and negative regulatory role for MBNL proteins in pluripotency, their knockdown significantly enhances the expression of key pluripotency genes and the formation of induced pluripotent stem cells during somatic cell reprogramming
      Title: MBNL proteins repress ES-cell-specific alternative splicing and reprogramming.
    9. We propose that major pathological features of the myotonic dystrophy brain result from disruption of the MBNL2-mediated developmental splicing program
      Title: Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC120625, MGC120626, MGC120628, DKFZp781H1296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    muscleblind-like protein 2
    Names
    muscleblind-like 2
    muscleblind-like protein 1
    muscleblind-like protein-like 39

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001306070.2 → NP_001292999.1  muscleblind-like protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001292999.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 4 which has a longer and distinct C-terminus compared to isoform 1. Variants 4 and 15-17 all encode the same isoform (4).
      Source sequence(s)
      AL161430, AL442067
      Consensus CDS
      CCDS76644.1
      UniProtKB/Swiss-Prot
      Q3SXY5, Q58F19, Q5VZF2, Q8NEV3, Q8TD82
      Related
      ENSP00000365861.3, ENST00000376673.8
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    2. NM_001382649.1 → NP_001369578.1  muscleblind-like protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1 and 6, encodes isoform 1.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS9484.1
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    3. NM_001382650.1 → NP_001369579.1  muscleblind-like protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 1 and 5, encodes isoform 1.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS9484.1
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    4. NM_001382651.1 → NP_001369580.1  muscleblind-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 3 and 8-14, encodes isoform 3.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS9483.1
      UniProtKB/TrEMBL
      A2A3S3
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    5. NM_001382652.1 → NP_001369581.1  muscleblind-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 3, 7, and 9-14, encodes isoform 3.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS9483.1
      UniProtKB/TrEMBL
      A2A3S3
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    6. NM_001382653.1 → NP_001369582.1  muscleblind-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 3, 7, 8, and 10-14, encodes isoform 3.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS9483.1
      UniProtKB/TrEMBL
      A2A3S3
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    7. NM_001382654.1 → NP_001369583.1  muscleblind-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 3, 7-9, and 11-14, encodes isoform 3.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS9483.1
      UniProtKB/TrEMBL
      A2A3S3
      Related
      ENSP00000380726.1, ENST00000397601.5
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    8. NM_001382656.1 → NP_001369585.1  muscleblind-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 3, 7-10, and 12-14, encodes isoform 3.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS9483.1
      UniProtKB/TrEMBL
      A2A3S3
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    9. NM_001382660.1 → NP_001369589.1  muscleblind-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 3, 7-11, 13, and 14, encodes isoform 3.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS9483.1
      UniProtKB/TrEMBL
      A2A3S3
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    10. NM_001382661.1 → NP_001369590.1  muscleblind-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 3, 7-12, and 14, encodes isoform 3.
      Source sequence(s)
      AL161430, AL442067
      Consensus CDS
      CCDS9483.1
      UniProtKB/TrEMBL
      A2A3S3
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    11. NM_001382663.1 → NP_001369592.1  muscleblind-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 3 and 7-13, encodes isoform 3.
      Source sequence(s)
      AL161430, AL442067
      Consensus CDS
      CCDS9483.1
      UniProtKB/TrEMBL
      A2A3S3
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    12. NM_001382666.1 → NP_001369595.1  muscleblind-like protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 4, 16, and 17, encodes isoform 4.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS76644.1
      UniProtKB/Swiss-Prot
      Q3SXY5, Q58F19, Q5VZF2, Q8NEV3, Q8TD82
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    13. NM_001382667.1 → NP_001369596.1  muscleblind-like protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 4, 15, and 17, encodes isoform 4.
      Source sequence(s)
      AL161430, AL442067
      Consensus CDS
      CCDS76644.1
      UniProtKB/Swiss-Prot
      Q3SXY5, Q58F19, Q5VZF2, Q8NEV3, Q8TD82
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    14. NM_001382668.1 → NP_001369597.1  muscleblind-like protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 4, 15, and 16, encodes isoform 4.
      Source sequence(s)
      AL161430, AL442067
      Consensus CDS
      CCDS76644.1
      UniProtKB/Swiss-Prot
      Q3SXY5, Q58F19, Q5VZF2, Q8NEV3, Q8TD82
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    15. NM_001382669.1 → NP_001369598.1  muscleblind-like protein 2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variant 19, encodes isoform 5.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS91823.1
      UniProtKB/TrEMBL
      A0A994J506
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    16. NM_001382670.1 → NP_001369599.1  muscleblind-like protein 2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variant 18, encodes isoform 5.
      Source sequence(s)
      AL161430, AL442067
      Consensus CDS
      CCDS91823.1
      UniProtKB/TrEMBL
      A0A994J506
      Related
      ENSP00000515872.1, ENST00000704364.1
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    17. NM_001382671.1 → NP_001369600.1  muscleblind-like protein 2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), as well as variants 21 and 22, encodes isoform 6.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Consensus CDS
      CCDS91825.1
      UniProtKB/TrEMBL
      A0A994J509
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    18. NM_001382672.1 → NP_001369601.1  muscleblind-like protein 2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21), as well as variants 20 and 22, encodes isoform 6.
      Source sequence(s)
      AL161430, AL442067
      Consensus CDS
      CCDS91825.1
      UniProtKB/TrEMBL
      A0A994J509
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    19. NM_001382673.1 → NP_001369602.1  muscleblind-like protein 2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variants 20 and 21, encodes isoform 6.
      Source sequence(s)
      AL161430, AL442067
      Consensus CDS
      CCDS91825.1
      UniProtKB/TrEMBL
      A0A994J509
      Related
      ENSP00000515878.1, ENST00000704373.1
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    20. NM_001382674.1 → NP_001369603.1  muscleblind-like protein 2 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (23), as well as variants 24 and 25, encodes isoform 7.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    21. NM_001382675.1 → NP_001369604.1  muscleblind-like protein 2 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24), as well as variants 23 and 25, encodes isoform 7.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    22. NM_001382676.1 → NP_001369605.1  muscleblind-like protein 2 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (25), as well as variants 23 and 24, encodes isoform 7.
      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    23. NM_001382677.1 → NP_001369606.1  muscleblind-like protein 2 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (26), as well as variants 27-29, encodes isoform 8.
      Source sequence(s)
      AL161430, AL359925, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:17 → 40
      ZnF_C3H1; zinc finger

    24. NM_001382678.1 → NP_001369607.1  muscleblind-like protein 2 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (27), as well as variants 26, 28, and 29, encodes isoform 8.
      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:17 → 40
      ZnF_C3H1; zinc finger

    25. NM_001382679.1 → NP_001369608.1  muscleblind-like protein 2 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (28), as well as variants 26, 27, and 29, encodes isoform 8.
      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:17 → 40
      ZnF_C3H1; zinc finger

    26. NM_001382680.1 → NP_001369609.1  muscleblind-like protein 2 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (29), as well as variants 26-28, encodes isoform 8.
      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:17 → 40
      ZnF_C3H1; zinc finger

    27. NM_001382681.1 → NP_001369610.1  muscleblind-like protein 2 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      UniProtKB/TrEMBL
      A0PJJ3
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    28. NM_001382682.1 → NP_001369611.1  muscleblind-like protein 2 isoform 25

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:83 → 107
      ZnF_C3H1; zinc finger

    29. NM_001382683.1 → NP_001369612.1  muscleblind-like protein 2 isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (32) encodes the longest isoform (10).
      Source sequence(s)
      AL161430, AL442067
      Consensus CDS
      CCDS91824.1
      UniProtKB/TrEMBL
      A0A7P0T9I3
      Related
      ENSP00000505596.1, ENST00000679496.1
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    30. NM_001382684.1 → NP_001369613.1  muscleblind-like protein 2 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    31. NM_001382685.1 → NP_001369614.1  muscleblind-like protein 2 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    32. NM_001382686.1 → NP_001369615.1  muscleblind-like protein 2 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    33. NM_001382687.1 → NP_001369616.1  muscleblind-like protein 2 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    34. NM_001382688.1 → NP_001369617.1  muscleblind-like protein 2 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    35. NM_001382689.1 → NP_001369618.1  muscleblind-like protein 2 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:135 → 159
      ZnF_C3H1; zinc finger

    36. NM_001382690.1 → NP_001369619.1  muscleblind-like protein 2 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:135 → 159
      ZnF_C3H1; zinc finger

    37. NM_001382691.1 → NP_001369620.1  muscleblind-like protein 2 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:135 → 159
      ZnF_C3H1; zinc finger

    38. NM_001382692.1 → NP_001369621.1  muscleblind-like protein 2 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:135 → 159
      ZnF_C3H1; zinc finger

    39. NM_001382693.1 → NP_001369622.1  muscleblind-like protein 2 isoform 20

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:123 → 147
      ZnF_C3H1; zinc finger

    40. NM_001382694.1 → NP_001369623.1  muscleblind-like protein 2 isoform 21

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (2) summary
      PTZ00449
      Location:106 → 263
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      smart00356
      Location:17 → 40
      ZnF_C3H1; zinc finger

    41. NM_001382695.1 → NP_001369624.1  muscleblind-like protein 2 isoform 22

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:17 → 40
      ZnF_C3H1; zinc finger

    42. NM_001382696.1 → NP_001369625.1  muscleblind-like protein 2 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL359925, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:83 → 107
      ZnF_C3H1; zinc finger

    43. NM_001382697.1 → NP_001369626.1  muscleblind-like protein 2 isoform 24

      Status: REVIEWED

      Source sequence(s)
      AL161430, AL442067
      Conserved Domains (1) summary
      smart00356
      Location:17 → 40
      ZnF_C3H1; zinc finger

    44. NM_144778.4 → NP_659002.1  muscleblind-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_659002.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), as well as variants 5 and 6, encodes isoform 1.
      Source sequence(s)
      AF339782, BC104040, CR749802, DW415513
      Consensus CDS
      CCDS9484.1
      UniProtKB/Swiss-Prot
      Q5VZF2
      Related
      ENSP00000267287.7, ENST00000345429.10
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    45. NM_207304.3 → NP_997187.1  muscleblind-like protein 2 isoform 3

      See identical proteins and their annotated locations for NP_997187.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3 which has a shorter and distinct C-terminus compared to isoform 1. Variants 3 and 7-14 all encode the same isoform (3).
      Source sequence(s)
      AL161430, AL442067
      Consensus CDS
      CCDS9483.1
      UniProtKB/TrEMBL
      A2A3S3
      Related
      ENSP00000344214.4, ENST00000343600.9
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      97141834..97394120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430004.1 → XP_047285960.1  muscleblind-like protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A994J506

    2. XM_047430002.1 → XP_047285958.1  muscleblind-like protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T9I3

    3. XM_047430006.1 → XP_047285962.1  muscleblind-like protein 2 isoform X4

    4. XM_047430005.1 → XP_047285961.1  muscleblind-like protein 2 isoform X3

      UniProtKB/TrEMBL
      A0A994J509

    5. XM_047430009.1 → XP_047285965.1  muscleblind-like protein 2 isoform X6

    6. XM_047430007.1 → XP_047285963.1  muscleblind-like protein 2 isoform X5

      UniProtKB/Swiss-Prot
      Q3SXY5, Q58F19, Q5VZF2, Q8NEV3, Q8TD82

    7. XM_047430011.1 → XP_047285967.1  muscleblind-like protein 2 isoform X8

    8. XM_047430010.1 → XP_047285966.1  muscleblind-like protein 2 isoform X7

      UniProtKB/TrEMBL
      A2A3S3

    9. XM_047430003.1 → XP_047285959.1  muscleblind-like protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T9I3

    10. XM_047430008.1 → XP_047285964.1  muscleblind-like protein 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      96345880..96600426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373979.1 → XP_054229954.1  muscleblind-like protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A994J506

    2. XM_054373977.1 → XP_054229952.1  muscleblind-like protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T9I3

    3. XM_054373981.1 → XP_054229956.1  muscleblind-like protein 2 isoform X4

    4. XM_054373980.1 → XP_054229955.1  muscleblind-like protein 2 isoform X3

      UniProtKB/TrEMBL
      A0A994J509

    5. XM_054373984.1 → XP_054229959.1  muscleblind-like protein 2 isoform X6

    6. XM_054373982.1 → XP_054229957.1  muscleblind-like protein 2 isoform X5

      UniProtKB/Swiss-Prot
      Q3SXY5, Q58F19, Q5VZF2, Q8NEV3, Q8TD82

    7. XM_054373986.1 → XP_054229961.1  muscleblind-like protein 2 isoform X8

    8. XM_054373985.1 → XP_054229960.1  muscleblind-like protein 2 isoform X7

      UniProtKB/TrEMBL
      A2A3S3

    9. XM_054373978.1 → XP_054229953.1  muscleblind-like protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T9I3

    10. XM_054373983.1 → XP_054229958.1  muscleblind-like protein 2 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_005757.4: Suppressed sequence

      Description
      NM_005757.4: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VZF2.2 GenPept UniProtKB/Swiss-Prot:Q5VZF2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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