COL6A2, Official Symbol COL6A2provided by HGNC Official Full Name collagen type VI alpha 2 chainprovided by HGNC Primary source HGNC:HGNC:2212 See related Ensembl:ENSG00000142173 MIM:120240; AllianceGenome:HGNC:2212 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UCMD1; BTHLM1; PP3610 Summary 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 and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 164.0), endometrium (RPKM 155.3) and 22 other tissues See more Orthologs mouse all