Collagen, type I, alpha 2

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

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
Wikidata
View/Edit HumanView/Edit Mouse

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.

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