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
Orthologs
SpeciesHumanMouse
Entrez

1278

12843

Ensembl

ENSG00000164692

ENSMUSG00000029661

UniProt

P08123

Q01149

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, Cardiac-valvular, and Arthrochlasia type 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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000164692 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029661 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. S2CID 30209998.
  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. doi:10.1016/S0021-9258(18)68560-6. PMID 2897363.
  7. "Entrez Gene: COL1A2 collagen, type I, alpha 2".

Further reading

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