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Gene information for COL2A1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1280
Official gene symbolCOL2A1
Full namecollagen, type II, alpha 1
Aliases,ANFH,AOM,COL11A3,MGC131516,SEDC,
Gene summaryThis gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq]
LocationChromosome: 12   Locus: 12q13.11
Gene position48398285 - 48366748  Map Viewer
Gene orientationminus
Gene size31538 bp
Gene sequence
OMIM ID120140