Collagen, type VI, alpha 2

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COL6A2
Identifiers
AliasesCOL6A2, PP3610, BTHLM1, UCMD1, collagen type VI alpha 2, collagen type VI alpha 2 chain
External IDsMGI: 88460 HomoloGene: 1392 GeneCards: COL6A2
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for COL6A2
Genomic location for COL6A2
Band21q22.3Start46,098,097 bp[1]
End46,132,849 bp[1]
RNA expression pattern
PBB GE COL6A2 213290 at fs.png

PBB GE COL6A2 209156 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 10: 76.6 – 76.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function[edit]

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.[5]

References[edit]

Further reading[edit]

External links[edit]