COL1A2

COL1A2
Identifiers
Aliases	COL1A2, OI4, collagen type I alpha 2, collagen type I alpha 2 chain
External IDs	OMIM: 120160 MGI: 88468 HomoloGene: 69 GeneCards: COL1A2
Genetically Related Diseases
smallpox
Gene ontology Molecular function • metal ion binding • identical protein binding • SMAD binding • protein binding, bridging • platelet-derived growth factor binding • extracellular matrix structural constituent • protein binding Cellular component • extracellular exosome • extracellular region • endoplasmic reticulum lumen • proteinaceous extracellular matrix • extracellular matrix • collagen trimer • collagen type I trimer • extracellular space • endoplasmic reticulum 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 Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1278	12843
Ensembl	ENSG00000164692	ENSMUSG00000029661
UniProt	P08123	Q01149
RefSeq (mRNA)	NM_000089	NM_007743
RefSeq (protein)	NP_000080	NP_031769.2 NP_031769
Location (UCSC)	Chr 7: 94.39 – 94.43 Mb	Chr 6: 4.5 – 4.54 Mb
PubMed search

1278

12843

ENSG00000164692

ENSMUSG00000029661

P08123

Q01149

NM_000089

NM_007743

NP_000080

NP_031769.2
NP_031769

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

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.

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Wikipedia