COL5A2

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Collagen, type V, alpha 2
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols COL5A2 ; MGC105115
External IDs OMIM120190 MGI88458 HomoloGene20119 GeneCards: COL5A2 Gene
RNA expression pattern
PBB GE COL5A2 221729 at tn.png
PBB GE COL5A2 221730 at tn.png
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 NP_031763
Location (UCSC) Chr 2:
189.9 – 190.04 Mb
Chr 1:
45.37 – 45.5 Mb
PubMed search [1] [2]

Collagen alpha-2(V) chain is a protein that in humans is encoded by the COL5A2 gene.[1][2]

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.[2]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: COL5A2 collagen, type V, alpha 2". 

Further reading[edit]

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