MYBPC2

Myosin binding protein C, fast type is a protein that in humans is encoded by the MYBPC2 gene.^[5]

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)[1] Band 19q13.33 Start 50,432,892 bp[1] End 50,466,321 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B3 Start 44,151,123 bp[2] End 44,174,080 bp[2]
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 [3] [4]
Wikidata
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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]