Col6a2 Gene Search Result

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Genes search result for Homo sapiens
(View Results for all Objects and Ontologies)

4 records found for search term Col6a2

Refine Term:

Assembly:

Chr

Sort By:

Export

RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1313701	COL6A2	collagen type VI alpha 2 chain	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 ... (more) 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]	21	46098112	46132848	Human	652	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
150340537	COL6A2-DT	COL6A2 divergent transcript		21	46091896	46097645	Human		symbol , GTEx , COSMIC , name , Human Proteome Map	gene, ncrna, VALIDATED [RefSeq]
16553793	COL6A2-DT	COL6A2 divergent transcript					Human		symbol , COSMIC , name , Human Proteome Map	gene, lncrna
1352880	COL6A1	collagen type VI alpha 1 chain	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic struct ... (more) ural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]	21	45981770	46005048	Human	659	description	gene, protein-coding, REVIEWED [RefSeq]