COL5A2

from Wikipedia, the free encyclopedia
Type V collagen, alpha 2
other names
  • Alpha 2 Type V Collagen
  • Collagen Alpha-2 (V) chain
  • Type V collagen alpha-2 chain

Available structural data : 1A9A

Properties of human protein
Mass / length primary structure 144,910 daltons / 1,499 amino acids
Identifier
Gene names COL5A2; EDSC
External IDs
Occurrence
Parent taxon Jaws
Orthologue
human House mouse
Entrez 1290 12832
Ensemble ENSG00000204262 ENSMUSG00000026042
UniProt P05997 Q3U962
Refseq (mRNA) NM_000393 NM_007737
Refseq (protein) NP_000384.2 NP_031763.2
Gene locus Chr 2: 189.03 - 189.18 Mb Chr 1: 45.37 - 45.5 Mb
PubMed search 1290 12832

Type V collagen, alpha 2 , also known as alpha-2 type V collagen , is a fibrillar collagen encoded by the COL5A2 gene in the human organism . It is an integral part of tissues and regulates the arrangement of heterotypic nerve fibers .

Clinical significance

Mutations in this gene are associated with Ehlers-Danlos syndrome , classic type.

A deficiency in alpha-2 (V) chains can exacerbate the formation of an abdominal aortic aneurysm, making it more susceptible to aortic dissection and ruptured aneurysm. Therefore, COL5A2 can be used as a target for the identification and treatment of nonsyndromic patients susceptible to aortic aneurysm and dissection.

The colorectal carcinogenesis is provided with a COL5A2 expression in stromal cells associated. In addition, COL5A2 could be viewed as a potential biomarker for bladder cancer .

Individual evidence

  1. ↑ COL5A2. In: GeneCards (English).
  2. ^ GeneID 1290
  3. ↑ AC Park, N. Phan, D. Massoudi, Z. Liu, JF Kernien, SM Adams, JM Davidson, DE Birk, B. Liu, DS Greenspan: Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections. In: The American journal of pathology. Volume 187, number 10, October 2017, pp. 2300-2311, doi : 10.1016 / j.ajpath.2017.06.006 , PMID 28734943 , PMC 5809516 (free full text).
  4. ↑ H. Fischer, R. Stenling, C. Rubio, A. Lindblom: Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2. In: Carcinogenesis. Volume 22, Number 6, June 2001, pp. 875-878, doi : 10.1093 / carcin / 22.6.875 , PMID 11375892 .
  5. ↑ XT Zeng, XP Liu, TZ Liu, XH Wang: The clinical significance of COL5A2 in patients with bladder cancer: A retrospective analysis of bladder cancer gene expression data. In: Medicine. Volume 97, number 10, March 2018, p. E0091, doi : 10.1097 / MD.0000000000010091 , PMID 29517678 , PMC 5882427 (free full text).