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    MYBPC3 myosin binding protein C3 [ Homo sapiens (human) ]

    Gene ID: 4607, updated on 7-Aug-2022

    Summary

    Official Symbol
    MYBPC3provided by HGNC
    Official Full Name
    myosin binding protein C3provided by HGNC
    Primary source
    HGNC:HGNC:7551
    See related
    Ensembl:ENSG00000134571 MIM:600958; AllianceGenome:HGNC:7551
    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
    FHC; CMH4; CMD1MM; LVNC10; MYBP-C; cMyBP-C
    Summary
    MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]
    Expression
    Restricted expression toward heart (RPKM 426.0) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYBPC3 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47331406..47352702, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47488226..47509533, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47352957..47374253, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9889 Neighboring gene MADD antisense RNA 1 Neighboring gene MAP kinase activating death domain Neighboring gene Spi-1 proto-oncogene Neighboring gene microRNA 4487

    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

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYBPC3 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2015-11-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2015-11-12)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp779E1762

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables myosin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables myosin heavy chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables myosin heavy chain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables titin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ATP-dependent activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of muscle filament sliding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of striated muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in A band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in C zone NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cardiac myofibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in striated muscle myosin thick filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in striated muscle myosin thick filament ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    myosin-binding protein C, cardiac-type
    Names
    myosin binding protein C, cardiac

    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_007667.1 RefSeqGene

      Range
      5001..26297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_386

    mRNA and Protein(s)

    1. NM_000256.3NP_000247.2  myosin-binding protein C, cardiac-type

      See identical proteins and their annotated locations for NP_000247.2

      Status: REVIEWED

      Source sequence(s)
      AJ708511, AJ708699, AL691822, AU140784, DA563514, EF560722
      Consensus CDS
      CCDS53621.1
      UniProtKB/Swiss-Prot
      Q14896, Q9UM53
      UniProtKB/TrEMBL
      A5YM48
      Related
      ENSP00000442795.1, ENST00000545968.6
      Conserved Domains (9) summary
      cd05748
      Location:9901062
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      cd05894
      Location:655768
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:12001257
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:161256
      IG; Immunoglobulin
      smart00410
      Location:9811062
      IG_like; Immunoglobulin like
      cd00063
      Location:772862
      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:11811270
      I-set; Immunoglobulin I-set domain
      pfam00047
      Location:161245
      ig; Immunoglobulin domain
      cl11960
      Location:1589
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      47331406..47352702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47488226..47509533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)