MYBPC2

MYBPC2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2E7C, 2EDK, 2EDN
Identifiers
Aliases	MYBPC2, MYBPC, MYBPCF, myosin binding protein C, fast type, fsMyBP-C, myosin binding protein C2
External IDs	OMIM: 160793; MGI: 1336170; HomoloGene: 3331; GeneCards: MYBPC2; OMA:MYBPC2 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.33 Start 50,432,892 bp End 50,466,321 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 B3 Start 44,151,123 bp End 44,174,080 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vastus lateralis muscle muscle of thigh Skeletal muscle tissue of rectus abdominis triceps brachii muscle biceps brachii Skeletal muscle tissue of biceps brachii gastrocnemius muscle thoracic diaphragm glutes body of tongue Top expressed in triceps brachii muscle vastus lateralis muscle medial head of gastrocnemius muscle temporal muscle knee joint sternocleidomastoid muscle tibialis anterior muscle muscle of thigh digastric muscle skeletal muscle tissue More reference expression data BioGPS n/a
Gene ontology Molecular function actin binding structural constituent of muscle protein binding actin filament binding muscle alpha-actinin binding structural molecule activity conferring elasticity Cellular component myosin filament cytosol muscle myosin complex Z discdkac M band striated muscle thin filament sarcomere Biological process cell adhesion muscle contraction muscle filament sliding striated muscle contraction actin filament organization sarcomere organization striated muscle myosin thick filament assembly skeletal muscle thin filament assembly skeletal muscle myosin thick filament assembly cardiac myofibril assembly cardiac muscle tissue morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4606 233199 Ensembl ENSG00000086967 ENSMUSG00000038670 UniProt Q14324 Q5XKE0 RefSeq (mRNA) NM_004533 NM_146189 RefSeq (protein) NP_004524 NP_666301 Location (UCSC) Chr 19: 50.43 – 50.47 Mb Chr 7: 44.15 – 44.17 Mb PubMed search
Wikidata
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Myosin binding protein C, fast type is a protein that in humans is encoded by the MYBPC2 gene.

Function

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.

Further reading

• Luther PK, Bennett PM, Knupp C, Craig R, Padrón R, Harris SP, Patel J, Moss RL (Dec 2008). "Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle". Journal of Molecular Biology. 384 (1): 60–72. doi:10.1016/j.jmb.2008.09.013. PMC 2593797. PMID 18817784.
• Hitomi N, Kubo T, Kitaoka H, Hirota T, Hamada T, Hoshikawa E, Hayato K, Okawa M, Kimura A, Doi YL (Sep 2010). "A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy". Journal of Cardiology. 56 (2): 189–96. doi:10.1016/j.jjcc.2010.04.003. PMID 20605413.
• Flashman E, Korkie L, Watkins H, Redwood C, Moolman-Smook JC (Feb 2008). "Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle". FEBS Letters. 582 (3): 434–8. doi:10.1016/j.febslet.2008.01.004. PMID 18201573. S2CID 40828345.
• Moolman-Smook J, Flashman E, de Lange W, Li Z, Corfield V, Redwood C, Watkins H (Oct 2002). "Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations". Circulation Research. 91 (8): 704–11. doi:10.1161/01.res.0000036750.81083.83. PMID 12386147.
• Weber FE, Vaughan KT, Reinach FC, Fischman DA (Sep 1993). "Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment". European Journal of Biochemistry / FEBS. 216 (2): 661–9. doi:10.1111/j.1432-1033.1993.tb18186.x. PMID 8375400.
• Guardiani C, Cecconi F, Livi R (Mar 2008). "Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C". Proteins. 70 (4): 1313–22. arXiv:0712.1554. doi:10.1002/prot.21621. PMID 17876814. S2CID 2685944.
• Meurs KM, Kuan M (Mar 2011). "Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene". Environmental and Molecular Mutagenesis. 52 (2): 161–4. doi:10.1002/em.20596. PMID 20740642. S2CID 20916169.
• Welikson RE, Fischman DA (Sep 2002). "The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells". Journal of Cell Science. 115 (Pt 17): 3517–26. PMID 12154082.
• Alyonycheva TN, Mikawa T, Reinach FC, Fischman DA (Aug 1997). "Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain". The Journal of Biological Chemistry. 272 (33): 20866–72. doi:10.1074/jbc.272.33.20866. PMID 9252413.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.