GENE REFERENCE / HGNC:2187

COL11A2

collagen type XI alpha 2 chain

protein-coding gene6p21.32Gene information

What does this gene do?

The COL11A2 gene provides instructions for making a component of type XI collagen called the pro-alpha2(XI) chain. Collagens are molecules that provide structure and strength to the connective tissues that support the body's muscles, joints, organs, and skin. Type XI collagen is normally found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen made with the pro-alpha2(XI) chain is also part of the inner ear and the nucleus pulposus, which is the center portion of the discs between the bones of the spine (vertebrae).

Collagens begin as rope-like procollagen molecules that are each made up of three chains. The pro-alpha2(XI) chain combines with two other collagen chains, pro-alpha1(XI) and pro-alpha1(II), to form a triple-stranded procollagen molecule. Then the ropelike procollagen is processed by enzymes to create mature collagen. Mature collagen molecules arrange themselves into long, thin fibrils that form stable interactions (cross-links) with one another in the spaces between cells (the extracellular matrix). The cross-links result in the formation of very strong type XI collagen fibers.

Type XI collagen also helps maintain the spacing and width (diameter) of another type of collagen molecule, type II collagen. Type II collagen is an important component of mature cartilage. The arrangement and size of type II collagen fibrils is essential for the normal structure of these tissues.

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-08-23. Source review: 2016-05.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
nonsyndromic genetic hearing lossMONDO:0019497 · Evaluated 2023-11-15	Autosomal dominant	DefinitiveHearing Loss Gene Curation Expert Panel
otospondylomegaepiphyseal dysplasiaMONDO:0008975 · Evaluated 2018-12-20	Autosomal dominant	DefinitiveHearing Loss Gene Curation Expert Panel
otospondylomegaepiphyseal dysplasiaMONDO:0008975 · Evaluated 2018-12-20	Autosomal recessive	DefinitiveHearing Loss Gene Curation Expert Panel
nonsyndromic genetic hearing lossMONDO:0019497 · Evaluated 2023-11-15	Autosomal recessive	ModerateHearing Loss Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 3,297
Submissions for variants in or overlapping this gene: 5,840
Submissions explicitly reporting this gene: 5,723
Alleles reported pathogenic / likely pathogenic: 214
VariationIDs with uncertain significance: 1,070
VariationIDs with conflicting classifications: 341

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about COL11A2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 214 alleles in COL11A2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in COL11A2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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