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COL11A2

Synonyms
DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
32
Likely pathogenic
0
VUS
22,270
Likely benign
6,812
Benign
4,056

Patient phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on COL11A2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
36.7%
Abnormality of the cardiovascular system
30%
Abnormality of head or neck
26.7%
Abnormality of the ear
20%
Abnormality of limbs
16.7%
Abnormality of the eye
10%
Abnormality of the integument
10%
Growth abnormality
10%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the respiratory system
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
3.3%
Abnormality of the digestive system
3.3%
Abnormality of the endocrine system
3.3%
Abnormality of the immune system
3.3%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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