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Gene information for COL11A2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1302
Official gene symbolCOL11A2
Full namecollagen, type XI, alpha 2
Aliases,DFNA13,DFNB53,HKE5,PARP,STL3,
Gene summaryThis gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq]
LocationChromosome: 6   Locus: 6p21.3
Gene position33160245 - 33130469  Map Viewer
Gene orientationminus
Gene size29777 bp
Gene sequence
OMIM ID120290