COL11A2 Chromosome 6
Collagen type XI alpha 2 chain
Upload your DNA to see your personal genotypes for variants in COL11A2.
What This Gene Does
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]
Gene Info
Gene Group
Fibrillar collagens
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000204248
Associated Conditions (34)
Inborn genetic diseases
Otospondylomegaepiphyseal dysplasia
autosomal recessive
Autosomal recessive nonsyndromic hearing loss 53
Fibrochondrogenesis 2
Autosomal dominant nonsyndromic hearing loss 13
autosomal dominant
COL11A2-related disorder
Hearing impairment
Intellectual disability
Connective tissue disorder
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss 33
Rare genetic deafness
Monogenic hearing loss
Retinal dystrophy
Down syndrome
Thyroid cancer
nonmedullary
1
+14 more conditions
Key Variants
RS1048273373
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1049821607
Conflicting classifications of pathogenicity
Health Risk
RS1057341966
Conflicting classifications of pathogenicity
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia
Health Risk
RS1057524643
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia, autosomal recessive
Health Risk
RS113067047
Conflicting classifications of pathogenicity
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2
Health Risk
RS1172866556
Conflicting classifications of pathogenicity
Health Risk
RS118097056
Conflicting classifications of pathogenicity
Health Risk
RS1213135480
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121912945
Conflicting classifications of pathogenicity
Otospondylomegaepiphyseal dysplasia, autosomal recessive, COL11A2-related disorder
Health Risk
RS121912949
Conflicting classifications of pathogenicity
Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia
Health Risk
RS121912952
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 53, Hearing impairment, Otospondylomegaepiphyseal dysplasia
Health Risk
RS1219133025
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 13, Autosomal dominant nonsyndromic hearing loss 13
Health Risk
All Variants (424)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS770271840 | Health Risk | Pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia |
| RS776576899 | Health Risk | Pathogenic | — |
| RS778929272 | Health Risk | Pathogenic | Monogenic hearing loss, Otospondylomegaepiphyseal dysplasia, autosomal dominant |
| RS864309477 | Health Risk | Pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia |
| RS864309523 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 53, Autosomal recessive nonsyndromic hearing loss 53 |
| RS903118000 | Health Risk | Pathogenic | — |
| RS1206475365 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS121912947 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 13, Rare genetic deafness, COL11A2-related disorder |
| RS121912950 | Health Risk | Pathogenic/Likely pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Autosomal dominant nonsyndromic hearing loss 13 |
| RS1387164225 | Health Risk | Pathogenic/Likely pathogenic | COL11A2-related disorder, COL11A2-related disorder |
| RS1417182811 | Health Risk | Pathogenic/Likely pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia |
| RS1772090962 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1772690053 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2150555528 | Health Risk | Pathogenic/Likely pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia |
| RS2534413642 | Health Risk | Pathogenic/Likely pathogenic | Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal recessive |
| RS2534810137 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13, Otospondylomegaepiphyseal dysplasia |
| RS374156844 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS550153707 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 53, Autosomal recessive nonsyndromic hearing loss 53 |
| RS745874653 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS746754428 | Health Risk | Pathogenic/Likely pathogenic | Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia |
| RS764045158 | Health Risk | Pathogenic/Likely pathogenic | Fibrochondrogenesis 2, Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia |
| RS764450149 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS886044584 | Health Risk | Pathogenic/Likely pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Otospondylomegaepiphyseal dysplasia |
| RS911722283 | Health Risk | Pathogenic/Likely pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal recessive, Fibrochondrogenesis 2 |