Protein-coding gene in the species Homo sapiens
| MYBPC2 |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| List of PDB id codes |
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2E7C, 2EDK, 2EDN |
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| Identifiers |
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| Aliases | MYBPC2, MYBPC, MYBPCF, myosin binding protein C, fast type, fsMyBP-C, myosin binding protein C2 |
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| External IDs | OMIM: 160793; MGI: 1336170; HomoloGene: 3331; GeneCards: MYBPC2; OMA:MYBPC2 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 19 (human)[1] |
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| | Band | 19q13.33 | Start | 50,432,892 bp[1] |
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| End | 50,466,321 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 7 (mouse)[2] |
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| | Band | 7|7 B3 | Start | 44,151,123 bp[2] |
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| End | 44,174,080 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| 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
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| | 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
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 19: 50.43 – 50.47 Mb | Chr 7: 44.15 – 44.17 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Myosin binding protein C, fast type is a protein that in humans is encoded by the MYBPC2 gene.[5]
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.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000086967 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038670 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Myosin binding protein C, fast type".
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. 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. Bibcode:2011EnvMM..52..161M. 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. doi:10.1242/jcs.115.17.3517. 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.
