COL11A2

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]

Description

Collagen type XI alpha 2 chain

Tissue specificity

Group enriched (pituitary gland, testis)

Predicted location

Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

6 (33162681 - 33192499)

Ensembl ID

ENSG00000204248  (ver. 103.38)

Orthologs

Mouse Col11a2: ENSMUSG00000024330

UniProt

P13942

neXtProt

NX_P13942

Human splice variants
Mouse splice variants

Protein structure