Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MYBPC3 contributors: mlc/npt - updated : 30-11-2011
HGNC name myosin binding protein C, cardiac
HGNC id 7551
Corresponding disease
CMH4 cardiomyopathy, familial, hypertrophic 4
CMHNE cardiomyopathy, familial, hypertrophic, neonatal
Location 11p11.2      Physical location : 47.352.957 - 47.374.253
Synonym name
  • cardiac MyBP-C
  • cardiomyopathy, hypertrophic 4
  • protein C, cardiac
  • Synonym symbol(s) FHC, MYPC, MYBP-C, DKFZp779E1762; MYBPC, cMyBP-C
    DNA
    TYPE functioning gene
    STRUCTURE 21.30 kb     35 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    MDK 11p11.2 midkine (neurite growth-promoting factor 2) CHRM4 11p12-p11.2 cholinergic receptor, muscarinic 4 LOC387765 11 LOC387765 FLJ20294 11p11.2 hypothetical protein FLJ20294 FLJ32675 11p11.2 hypothetical protein FLJ32675 KIAA0652 11p12-q11 hypothetical protein FLJ32675 ARHGAP1 11p12-q12 Rho GTPase activating protein 1 ZNF408 11p11.2 zinc finger protein 408 F2 11p11-q12 coagulation factor II (thrombin) ch-TOG 11p11.2 KIAA0097 gene product LRP4 11p12-p11.2 low density lipoprotein receptor-related protein 4 MGC4707 11p11.2 hypothetical protein MGC4707 ZNF289 11p11.2-p11.12 zinc finger protein 289, ID1 regulated PACSIN3 11p12-p11.2 protein kinase C and casein kinase substrate in neurons 3 DDB2 11p12-p11.2 damage-specific DNA binding protein 2, 48kDa ACP2 11p11.2 acid phosphatase 2, lysosomal NR1H3 11p11.2 nuclear receptor subfamily 1, group H, member 3 MADD 11p11.22-p11.21 MAP-kinase activating death domain MYBPC3 11p11.2 myosin binding protein C, cardiac SPI1 11p12 spleen focus forming virus (SFFV) proviral integration oncogene spi1 SLC39A13 11p11.2 solute carrier family 39 (zinc transporter), member 13 PSMC3 11p13-p12 proteasome (prosome, macropain) 26S subunit, ATPase, 3 RAPSN 11p11.2-p11.1 receptor-associated protein of the synapse, 43kD CUGBP1 11p11 CUG triplet repeat, RNA binding protein 1 KBTBD4 11p11.2 kelch repeat and BTB (POZ) domain containing 4 NDUFS3 11p11.11 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) C1QTNF4 11q11 C1q and tumor necrosis factor related protein 4 MTCH2 11p11.2 mitochondrial carrier homolog 2 (C. elegans) FLJ23598 11p11.2 hypothetical protein FLJ23598 FNBP4 11q12.1 formin binding protein 4 NUP160 11q12.1 nucleoporin 160kDa PTPRJ 11p11.2 protein tyrosine phosphatase, receptor type, J LOC119765 11p11.12 similar to Olfactory receptor 4B1 (OST208) LOC390112 11 similar to Olfactory receptor 4B1 (OST208) LOC119764 11p11.12 similar to Olfactory receptor 4X2 LOC390113 11 similar to Olfactory receptor 4X1
    RNA
    TRANSCRIPTS type messenger
    text with two isoforms cardiac and fast skeletal muscle
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    35 - 4217 149 1274 - 2011 21257752
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Reproductivefemale systemplacenta   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatum   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four N-terminal regulatory domains, C0-C1-m-C2 (C0C2), influencing actin and myosin interactions, the basic contractile proteins of muscle
  • a cardiac-specific Ig-like domain C0, interacting with the regulatory light chain of myosin, thus placing the N terminus of the protein in proximity to the motor domain of myosin
  • C0 and C1 domain can each bind to the same two distinctly different positions on F-actin
  • seven immunoglobulin Ig C2 domains
  • third immunoglobulin domain of the cardiac isoform (cC2), having the beta-sandwich structure expected from a member of the immunoglobulin fold
  • three fibronectin, type III domains
  • two myosin binding sites, one close to the N terminus and the other at the C terminus
  • HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin family
  • MYBP subfamily
  • CATEGORY motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    text sarcomeric protein in the A band of sarcomeres (the cross-bridge-bearing zone (C region) of A bands in striated muscle)
    basic FUNCTION
  • acting as a cross-bridge between myosin and titin, mediating adrenergic stimulation of cardiac contraction
  • accessory protein of striated muscle sarcomeres that is vital for maintaining regular heart function
  • multidomain protein present in the thick filaments of striated muscles and is involved in both sarcomere formation and contraction regulation
  • critical nodal point that has both important structural and signaling roles and whose modifications are known to cause significant human cardiac disease
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to beta myosin S2
  • binding to titin
  • interacts with actin via a single, moderate affinity site localized to the C-terminal region of the protein
  • cell & other
    REGULATION
    Other competency for phosphorylation at multiple sites in MYBPC3 is a prerequisite for normal beta-adrenergic responsiveness
    ASSOCIATED DISORDERS
    corresponding disease(s) CMH4 , CMHNE
    related resource FHC Mutation Database
    Susceptibility
  • to chronic risk of heart failure
  • to idiopathic dilated cardiomyopathy
  • Variant & Polymorphism insertion/deletion , other
  • 25-bp deletion, a common MYBPC3 variant in South Asians, is associated with chronic risk of heart failure (Dhandapany 2009)
  • mutated in idiopathic dilated cardiomyopathy (Moller 2009)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS