Collagen, type I, alpha 2

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

COL1A2
Identifiers
Aliases	COL1A2, OI4, collagen type I alpha 2, collagen type I alpha 2 chain, EDSCV, EDSARTH2
External IDs	OMIM: 120160 MGI: 88468 HomoloGene: 69 GeneCards: COL1A2
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q21.3 Start 94,394,895 bp[1] End 94,431,227 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 A1|6 1.81 cM Start 4,504,814 bp[2] End 4,541,544 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • metal ion binding • identical protein binding • SMAD binding • protein binding, bridging • platelet-derived growth factor binding • extracellular matrix structural constituent • GO:0001948 protein binding • protease binding • extracellular matrix structural constituent conferring tensile strength Cellular component • extracellular exosome • endoplasmic reticulum lumen • proteinaceous extracellular matrix • extracellular matrix • collagen • collagen type I trimer • extracellular • endoplasmic reticulum • extracellular region • collagen-containing extracellular matrix Biological process • blood coagulation • transforming growth factor beta receptor signaling pathway • extracellular matrix organization • collagen fibril organization • skin morphogenesis • odontogenesis • skeletal system development • collagen catabolic process • regulation of blood pressure • blood vessel development • regulation of immune response • leukocyte migration • protein heterotrimerization • cellular response to amino acid stimulus • platelet activation • Rho protein signal transduction • cytokine-mediated signaling pathway • bone mineralization • collagen metabolic process • extracellular matrix assembly Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
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 Mb	Chr 6: 4.5 – 4.54 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/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.[7]