Collagen, type V, alpha 2

From Wikipedia, the free encyclopedia
  (Redirected from COL5A2)
Jump to navigation Jump to search
COL5A2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOL5A2, EDSC, collagen type V alpha 2, collagen type V alpha 2 chain, EDSCL2
External IDsOMIM: 120190 MGI: 88458 HomoloGene: 20119 GeneCards: COL5A2
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for COL5A2
Genomic location for COL5A2
Band2q32.2Start189,031,896 bp[1]
End189,179,879 bp[1]
RNA expression pattern
PBB GE COL5A2 221730 at fs.png

PBB GE COL5A2 221729 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000393

NM_007737

RefSeq (protein)

NP_000384

NP_031763

Location (UCSC)Chr 2: 189.03 – 189.18 MbChr 1: 45.37 – 45.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-2(V) chain is a protein that in humans is encoded by the COL5A2 gene.[5][6]

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 classical type, formerly known as types I and II.[6]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000204262 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026042 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ a b "Entrez Gene: COL5A2 collagen, type V, alpha 2". 

Further reading[edit]

External links[edit]