Orphanet: Genes
x

Search for a gene

* (*) mandatory field

COL1A2 - collagen type I alpha 2 chain

  • Synonym(s) : alpha-2 collagen type I, alpha 2(I)-collagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, type I procollagen
  • Previous symbols and names : OI4, collagen type I alpha 2, collagen, type I, alpha 2, osteogenesis imperfecta type IV
  • Type : gene with protein product
  • Chromosomal location : 7q21.3
  • OMIM: 120160
  • HGNC: 2198
  • UniProtKB: P08123
  • Genatlas: COL1A2
  • Ensembl: ENSG00000164692
  • IUPHAR-DB: -
  • Reactome: P08123
  • LOVD: COL1A2

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Health care resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.