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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; OMA:COL1A2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q21.3 Start 94,394,895 bp End 94,431,227 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 A1|6 1.81 cM Start 4,504,814 bp End 4,541,544 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in periodontal fiber stromal cell of endometrium skin of hip tibia visceral pleura parietal pleura saphenous vein tendon of biceps brachii gallbladder skin of thigh Top expressed in calvaria body of femur efferent ductule tibiofemoral joint ascending aorta fossa vas deferens aortic valve umbilical cord stroma of bone marrow More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding identical protein binding SMAD binding protein-macromolecule adaptor activity platelet-derived growth factor binding extracellular matrix structural constituent protein binding protease binding extracellular matrix structural constituent conferring tensile strength Cellular component extracellular exosome endoplasmic reticulum lumen extracellular matrix collagen collagen type I trimer extracellular space 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
Wikidata
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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, 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.

See also

• Type-I collagen
• Collagen

References

1. ^ GRCh38: Ensembl release 89: ENSG00000164692 – Ensembl, May 2017
2. ^ 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

• 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. doi:10.1096/fasebj.5.7.2010058. PMID 2010058. S2CID 24461341.
• 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. S2CID 6890740.
• Rossert J, Terraz C, Dupont S (2001). "Regulation of type I collagen genes expression". Nephrol. Dial. Transplant. 15 (Suppl 6): 66–8. doi:10.1093/ndt/15.suppl_6.66. PMID 11143996.

External links

• GeneReviews/NCBI/NIH/UW entry on Osteogenesis Imperfecta

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