Collagen, type VI, alpha 2

From WikiProjectMed
(Redirected from COL6A2)
Jump to navigation Jump to search
COL6A2
Identifiers
AliasesCOL6A2, PP3610, BTHLM1, UCMD1, collagen type VI alpha 2, collagen type VI alpha 2 chain
External IDsOMIM: 120240 MGI: 88460 HomoloGene: 1392 GeneCards: COL6A2
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: 76.43 – 76.46 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

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000142173 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020241 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: COL6A2 collagen, type VI, alpha 2".
  6. ^ "COLLAGEN, TYPE VI, ALPHA-2; COL6A2". www.omim.org. Retrieved 2023-10-13.
  7. ^ Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P (2008-10-14). "Autosomal recessive myosclerosis myopathy is a collagen VI disorder". Neurology. 71 (16): 1245–1253. doi:10.1212/01.wnl.0000327611.01687.5e. ISSN 1526-632X. PMID 18852439. S2CID 21554344.

Further reading

External links