Human Gene COL11A2 (uc011hgi.1) Description and Page Index
  Description: Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 3, mRNA.
RefSeq Summary (NM_080679): 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].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:4,587,785-4,602,986 Size: 15,202 Total Exon Count: 9 Strand: -
Coding Region
   Position: chr6_mann_hap4:4,588,771-4,602,906 Size: 14,136 Coding Exon Count: 9 

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Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6_mann_hap4:4,587,785-4,602,986)mRNA (may differ from genome)Protein (306 aa)
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