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Gene : COL1A2 Homo sapiens

Name  ? collagen type I alpha 2 chain Cytological Location  7q21.3
Brief Description  collagen type I alpha 2 chain
description  This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, 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 the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
  • synonyms:
  • Z74616,
  • OTTHUMG00000148675,
  • OI4,
  • EDSCV,
  • EDSARTH2,
  • COL1A2,
  • uc003ung.1,
  • type I procollagen,
  • HGNC:2198,
  • collagen type I alpha 2,
  • osteogenesis imperfecta type IV,
  • collagen I, alpha-2 polypeptide,
  • alpha 2(I)-collagen,
  • OI4,
  • collagen, type I, alpha 2,
  • collagen of skin, tendon and bone, alpha-2 chain,
  • NM_000089,
  • alpha-2 collagen type I
  • identifiers:
  • 1278,
  • ENSG00000164692,
  • COL1A2

Genome feature

Region: gene ? Length: 36333  
Location: 7:94394895-94431227 Cyto location: 7q21.3


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Proteins

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SNPs

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Disease

6 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Homology

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Expression

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Other

26 SN Ps

5 Cross References

20 Data Sets

41 Homologues

0 Located Features

97 Rna Seq Results