Collagen, type I, alpha 2

Protein found in humans
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; OMA:COL1A2 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for COL1A2
Genomic location for COL1A2
Band7q21.3Start94,394,895 bp[1]
End94,431,227 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for COL1A2
Genomic location for COL1A2
Band6 A1|6 1.81 cMStart4,504,814 bp[2]
End4,541,544 bp[2]
RNA expression pattern
Bgee
HumanMouse (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

  • belly 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
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[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

See also

References

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