AutismKB 2.0

Annotation Details for MYBPC3


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Basic Information Top
Gene Symbol:MYBPC3 ( CMH4,DKFZp779E1762,FHC,MYBP-C )
Gene Full Name: myosin binding protein C, cardiac
Band: 11p11.2
Quick LinksEntrez ID:4607; OMIM: 600958; Uniprot ID:MYPC3_HUMAN; ENSEMBL ID: ENSG00000134571; HGNC ID: 7551
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0005863IDA-striated muscle myosin thick filament10024460
GO:0005863ISS-striated muscle myosin thick filament-
GO:0014705NAS-C zone15166115
GO:0030017IDA-sarcomere10024460
GO:0030018IBA-Z disc-
GO:0031430IBA-M band-
GO:0031672IDA-A band10024460
GO:0097512IDA-cardiac myofibril25771144
GO ID Evidence Qualifier GO_term References
GO:0001671ISS-ATPase activator activity-
GO:0005515IPI-protein binding21569246
GO:0008307IMP-structural constituent of muscle7493025
GO:0017022IDA-myosin binding10024460
GO:0031432NAS-titin binding7493025
GO:0032036IPI-myosin heavy chain binding17192269
GO:0042802IPI-identical protein binding18201573
GO:0046872IEA-metal ion binding-
GO:0051015IBA-actin filament binding-
GO:0051371IBA-muscle alpha-actinin binding-
GO:0097493IBA-structural molecule activity conferring elasticity-
GO ID Evidence Qualifier GO_term References
GO:0003007IMP-heart morphogenesis7493025
GO:0006941IBA-striated muscle contraction-
GO:0006942ISS-regulation of striated muscle contraction-
GO:0007015IBA-actin filament organization-
GO:0007155IEA-cell adhesion-
GO:0030049TAS-muscle filament sliding-
GO:0032781ISS-positive regulation of ATPase activity-
GO:0032971ISS-regulation of muscle filament sliding-
GO:0045214IBA-sarcomere organization-
GO:0055010IMP-ventricular cardiac muscle tissue morphogenesis11815426
GO:0060048ISS-cardiac muscle contraction-
GO:0071688IBA-striated muscle myosin thick filament assembly-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MYBPC3ALK10673914968112 Affinity Capture-MS
MYBPC3ALK11069214968112 Affinity Capture-MS
TTNMYBPC31106928631348 Far Western
TTNMYBPC31131248631348 Far Western
TNNI3KMYBPC311069212721663 Two-hybrid
TNNI3KMYBPC311927612721663 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:102844
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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