MGP Database

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MGP000626

UniProt Annotations

Entry Information
Gene Namecollagen, type VI, alpha 2
Protein EntryCO6A2_HUMAN
UniProt IDP12110
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=2C2; IsoId=P12110-1; Sequence=Displayed; Name=2C2A; IsoId=P12110-2; Sequence=VSP_001163, VSP_001164; Name=2C2A'; IsoId=P12110-3; Sequence=VSP_001161, VSP_001162;
DiseaseBethlem myopathy (BM) [MIM:158810]: A benign autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269|PubMed:11865138, ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:17886299, ECO:0000269|PubMed:8782832}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMyosclerosis autosomal recessive (MYOSAR) [MIM:255600]: A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseUllrich congenital muscular dystrophy (UCMD) [MIM:254090]: UCMD is a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269|PubMed:15563506, ECO:0000269|PubMed:15689448}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCollagen VI acts as a cell-binding protein.
InteractionQ9NRI5:DISC1; NbExp=3; IntAct=EBI-928749, EBI-529989;
PtmProlines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
SimilarityBelongs to the type VI collagen family. {ECO:0000305}.
SimilarityContains 3 VWFA domains. {ECO:0000255|PROSITE- ProRule:PRU00219}.
Subcellular LocationSecreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:8305732}. Membrane {ECO:0000269|PubMed:8305732}; Peripheral membrane protein {ECO:0000269|PubMed:8305732}. Note=Recruited on membranes by CSPG4.
SubunitTrimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI). Interacts with CSPG4. {ECO:0000269|PubMed:9099729}.
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