Collagen, type I, alpha 2

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
COL1A2
Identifiers
AliasesCOL1A2, OI4, collagen type I alpha 2, collagen type I alpha 2 chain, EDSCV, EDSARTH2
External IDsOMIM: 120160 MGI: 88468 HomoloGene: 69 GeneCards: COL1A2
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for COL1A2
Genomic location for COL1A2
Band7q21.3Start94,394,561 bp[1]
End94,431,232 bp[1]
RNA expression pattern
PBB GE COL1A2 202404 s at fs.png

PBB GE COL1A2 202403 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000089

NM_007743

RefSeq (protein)

NP_000080

NP_031769

Location (UCSC)Chr 7: 94.39 – 94.43 MbChr 6: 4.5 – 4.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.[5][6]

This gene encodes one of the chains for type I collagen, the fibrillar collagen found in most connective tissues. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for alpha-1 type I collagen since alpha-2 is less abundant. Multiple messages for this gene result from multiple polyadenylation signals, a feature shared by most of the other collagen genes.[7]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164692 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029661 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Retief E, Parker MI, Retief AE (May 1985). "Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1)". Hum Genet. 69 (4): 304–8. doi:10.1007/BF00291646. PMID 3857213.
  6. ^ Wenstrup RJ, Cohn DH, Cohen T, Byers PH (Jun 1988). "Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype". J Biol Chem. 263 (16): 7734–40. PMID 2897363.
  7. ^ "Entrez Gene: COL1A2 collagen, type I, alpha 2".

External links[edit]

Further reading[edit]