COL11A2

Chr 6

collagen type XI alpha 2 chain

Also known as: DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3

NCBI Gene: 1302 ENSG00000204248 UniProt: P13942

The protein is one of the alpha chains of type XI collagen, which controls lateral growth of collagen II fibrils during fibrillogenesis. Mutations cause a spectrum of conditions including Stickler syndrome type III, otospondylomegaepiphyseal dysplasia, fibrochondrogenesis, and both dominant (DFNA13) and recessive (DFNB53) forms of non-syndromic sensorineural hearing loss. Inheritance can be either autosomal dominant or autosomal recessive depending on the specific condition and mutation.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOtospondylomegaepiphyseal dysplasia, autosomal dominant

UniProtOtospondylomegaepiphyseal dysplasia, autosomal recessive

UniProtDeafness, autosomal dominant, 13

UniProtDeafness, autosomal recessive, 53

Clinical highlights

Gene-disease validity (ClinGen)

otospondylomegaepiphyseal dysplasia · ADDefinitivesufficient evidence for diagnostic panels4 gene-disease associations curated in total

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429