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Gene information for COL18A1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID80781
Official gene symbolCOL18A1
Full namecollagen, type XVIII, alpha 1
Aliases,FLJ27325,FLJ34914,KNO,KNO1,MGC74745,
Gene summaryThis gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
LocationChromosome: 21   Locus: 21q22.3
Gene position46825097 - 46933634  Map Viewer
Gene orientationplus
Gene size108538 bp
Gene sequence
OMIM ID120328