COL11A2, Official Symbol COL11A2provided by HGNC Official Full Name collagen type XI alpha 2 chainprovided by HGNC Primary source HGNC:HGNC:2187 See related Ensembl:ENSG00000204248 MIM:120290; AllianceGenome:HGNC:2187 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HKE5; PARP; STL3; FBCG2; DFNA13; DFNB53; OSMEDA; OSMEDB Summary This 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, Jul 2009] Expression Broad expression in testis (RPKM 1.9), brain (RPKM 1.8) and 20 other tissues See more Orthologs mouse all