Collagen, Type XI, Alpha-2

Alternative Names

  • COL11A2
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OMIM Number

120290

NCBI Gene ID

1302

Uniprot ID

P13942

Length

30,318 bases

No. of Exons

70

No. of isoforms

9

Protein Name

Collagen alpha-2(XI) chain

Molecular Mass

171791 Da

Amino Acid Count

1736

Genomic Location

chr6:33,162,691-33,193,008

Gene Map Locus
6p21.32

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_080680.3:c.966dupUnited Arab EmiratesNC_000006.11:g.33152081dupLikely Pathogenic,Pathogenic,Uncertain SignificanceNG_011589.1:g.13171dup; NM_080680.3:c.966dup; NP_542411.2:p.Thr323fs748440351497724
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