Aliases for COL1A2 Gene
External Ids for COL1A2 Gene
Previous HGNC Symbols for COL1A2 Gene
Previous GeneCards Identifiers for COL1A2 Gene
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]
GeneCards Summary for COL1A2 Gene
COL1A2 (Collagen Type I Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL1A2 include Osteogenesis Imperfecta, Type Iii and Osteogenesis Imperfecta, Type Iv. Among its related pathways are ERK Signaling and IL4-mediated signaling events. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein binding, bridging. An important paralog of this gene is COL7A1.
UniProtKB/Swiss-Prot Summary for COL1A2 Gene
Type I collagen is a member of group I collagen (fibrillar forming collagen).