Collagen, type V, alpha 2

COL5A2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases COL5A2, EDSC, collagen type V alpha 2, collagen type V alpha 2 chain
External IDs OMIM: 120190 MGI: 88458 HomoloGene: 20119 GeneCards: COL5A2
RNA expression pattern


More reference expression data
Orthologs
Species Human Mouse
Entrez

1290

12832

Ensembl

ENSG00000204262

ENSMUSG00000026042

UniProt

P05997

Q3U962

RefSeq (mRNA)

NM_000393

NM_007737

RefSeq (protein)

NP_000384.2

NP_031763.2

Location (UCSC) Chr 2: 189.03 – 189.18 Mb Chr 1: 45.37 – 45.5 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-2(V) chain is a protein that in humans is encoded by the COL5A2 gene.[3][4]

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II.[4]

See also

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S, Shows TB (May 1992). "Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome". Genomics. 12 (4): 836–7. doi:10.1016/0888-7543(92)90320-R. PMID 1572660.
  4. 1 2 "Entrez Gene: COL5A2 collagen, type V, alpha 2".

Further reading

External links


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