COL11A2 collagen type XI alpha 2 chain
Gene ID: 1302, updated on 3-Apr-2024Gene type: protein coding
Also known as: HKE5; PARP; STL3; FBCG2; DFNA13; DFNB53; OSMEDA; OSMEDB
- See all available tests in GTR for this gene
- Go to complete Gene record for COL11A2
- Go to Variation Viewer for COL11A2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. GeneReviews: Not available | |
| Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. GeneReviews: Not available | |
| Autosomal dominant nonsyndromic hearing loss 13 | not available |
| Autosomal recessive nonsyndromic hearing loss 53 | See labs |
| Fibrochondrogenesis 2 | not available |
| Genetically distinct subsets within ANCA-associated vasculitis. GeneReviews: Not available | |
| Newly identified loci that influence lipid concentrations and risk of coronary artery disease. GeneReviews: Not available | |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | See labs |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | See labs |
Genomic context
- Location:
- 6p21.32
- Sequence:
- Chromosome: 6; NC_000006.12 (33162694..33193519, complement)
- Total number of exons:
- 72
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL11A2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- COL11A2 database
- dbVarLink from Gene to dbVar
- Hereditary Hearing Loss Homepage
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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