Collagen, type VI, alpha 2

Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene.^[5]

COL6A2
Identifiers
Aliases	COL6A2, PP3610, BTHLM1, UCMD1, collagen type VI alpha 2, collagen type VI alpha 2 chain
External IDs	OMIM: 120240; MGI: 88460; HomoloGene: 1392; GeneCards: COL6A2; OMA:COL6A2 - orthologs
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 46,098,112 bp[1] End 46,132,848 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 C1|10 39.32 cM Start 76,431,596 bp[2] End 76,459,464 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium right coronary artery Descending thoracic aorta ascending aorta body of uterus muscle layer of sigmoid colon left uterine tube gastric mucosa saphenous vein canal of the cervix Top expressed in calvaria internal carotid artery external carotid artery efferent ductule ankle Gonadal ridge vas deferens uterus cervix umbilical cord More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding extracellular matrix structural constituent conferring tensile strength Cellular component extracellular vesicle sarcolemma collagen endoplasmic reticulum lumen extracellular exosome membrane extracellular matrix extracellular region extracellular space protein-containing complex collagen-containing extracellular matrix Biological process collagen catabolic process protein heterotrimerization cell adhesion extracellular matrix organization response to glucose growth plate cartilage chondrocyte morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1292 12834 Ensembl ENSG00000142173 ENSMUSG00000020241 UniProt P12110 Q02788 RefSeq (mRNA) NM_001849 NM_058174 NM_058175 NM_146007 NM_001347207 RefSeq (protein) NP_001840 NP_478054 NP_478055 NP_001334136 NP_666119 Location (UCSC) Chr 21: 46.1 – 46.13 Mb Chr 10: 76.43 – 76.46 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, and autosomal recessive myosclerosis myopathy.^[6][7] Three transcript variants have been identified for this gene.^[5]