COL1A2

Collagen, type I, alpha 2

Identifiers

External IDs

OMIM: 120160 MGI: 88468 HomoloGene: 69 ChEMBL: 2685 GeneCards: COL1A2 Gene

Gene Ontology
Molecular function	• extracellular matrix structural constituent • protein binding • protein binding, bridging • identical protein binding • SMAD binding • metal ion binding • platelet-derived growth factor binding
Cellular component	• extracellular region • collagen type I • extracellular space • endoplasmic reticulum lumen • extracellular matrix • extracellular vesicular exosome
Biological process	• skeletal system development • blood vessel development • transforming growth factor beta receptor signaling pathway • Rho protein signal transduction • blood coagulation • regulation of blood pressure • extracellular matrix disassembly • platelet activation • extracellular matrix organization • collagen fibril organization • collagen catabolic process • odontogenesis • skin morphogenesis • leukocyte migration • protein heterotrimerization • cellular response to amino acid stimulus
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 7:
94.02 – 94.06 Mb

Chr 6:
4.5 – 4.54 Mb

PubMed search

[1]

[2]

Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.^[1]^[2]

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.^[3]

1 See also
2 References
3 External links
4 Further reading

References [edit]

^ 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.
^ 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.
^ "Entrez Gene: COL1A2 collagen, type I, alpha 2".

External links [edit]

GeneReviews/NCBI/NIH/UW entry on Osteogenesis Imperfecta

Further reading [edit]

Byers PH, Wallis GA, Willing MC (1991). "Osteogenesis imperfecta: translation of mutation to phenotype". J. Med. Genet. 28 (7): 433–42. doi:10.1136/jmg.28.7.433. PMC 1016951. PMID 1895312.
Kuivaniemi H, Tromp G, Prockop DJ (1991). "Mutations in collagen genes: causes of rare and some common diseases in humans". FASEB J. 5 (7): 2052–60. PMID 2010058.
Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels". Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290.
Rossert J, Terraz C, Dupont S (2001). "Regulation of type I collagen genes expression". Nephrol. Dial. Transplant. 15 Suppl 6: 66–8. PMID 11143996.

Protein: scleroproteins

Extracellular matrix

Collagen

Fibril forming	type I COL1A1 COL1A2 type II (COL2A1) type III type V COL5A1 COL5A2 COL5A3 COL24A1 COL26A1

Other	FACIT: type IX COL9A1 COL9A2 COL9A3 type XII (COL12A1) COL14A1 COL16A1 COL19A1 COL20A1 COL21A1 COL22A1 basement membrane: type IV COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 multiplexin: COL15A1 type XVIII COL18A1 Endostatin transmembrane: COL13A1 COL17A1 COL23A1 COL25A1 other: type VI COL6A1 COL6A2 COL6A3 COL6A5 type VII (COL7A1) type VIII COL8A1 COL8A2 type X (COL10A1) type XI COL11A1 COL11A2 COL27A1 COL28A1

Enzymes	Prolyl hydroxylase/Lysyl hydroxylase Cartilage associated protein/Leprecan ADAMTS2 Procollagen peptidase Lysyl oxidase