COL11A2 Gene
Collagen Type XI Alpha 2 Chain
Gene Information Card
| Symbol | COL11A2 |
|---|---|
| Full Name | Collagen Type XI Alpha 2 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 1302 ncbi.nlm.nih.gov/gene/1302 |
| Ensembl ID | ENSG00000123569 |
| UniProt ID | P13942 |
| OMIM ID | 120290 |
| HGNC ID | 2187 |
| Aliases | DFNA13, DFNB53, FBCG2, HOKPP2, OSMED, PARP, STL3 |
Description
COL11A2 encodes the alpha-2 chain of type XI collagen, a minor fibrillar collagen that regulates collagen fibril assembly and diameter in cartilage, inner ear, and other connective tissues. Mutations in this gene cause various forms of hearing loss, Stickler syndrome type III, and otospondylomegaepiphyseal dysplasia (OSMED).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Stickler syndrome type III (STL3) | Missense or splice-site mutations disrupt collagen fibril formation in cartilage and inner ear, leading to hearing loss and joint problems. | OMIM #184840 |
| Otospondylomegaepiphyseal dysplasia (OSMED) | Biallelic loss-of-function mutations cause severe skeletal dysplasia, sensorineural hearing loss, and characteristic facial features. | OMIM #215150 |
| Autosomal dominant nonsyndromic hearing loss 13 (DFNA13) | Dominant missense mutations in the triple-helix domain alter collagen assembly in the cochlea. | OMIM #601868 |
| Autosomal recessive nonsyndromic hearing loss 53 (DFNB53) | Recessive mutations lead to loss of functional collagen in inner ear structures. | OMIM #609706 |
| Osteoarthritis susceptibility | Polymorphisms in COL11A2 are associated with increased risk of hip and knee osteoarthritis. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | Medium |
| Inner ear (cochlea) | 8.3 | Low |
| Bone | 6.1 | Low |
| Lung | 4.2 | Low |
| Testis | 3.8 | Low |
| Placenta | 2.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | 15.2 | Primary cartilage cells |
| Fibroblasts | 5.6 | Dermal fibroblasts |
| HEK 293 | 1.2 | Embryonic kidney cell line |
| HeLa | 0.8 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.163G>A (p.Gly55Arg) | Missense | <0.01% | Dominant negative; disrupts triple helix stability; associated with DFNA13 |
| c.346C>T (p.Arg116*) | Nonsense | <0.01% | Loss-of-function; causes OSMED in homozygotes |
| c.1129G>A (p.Gly377Ser) | Missense | <0.01% | Dominant negative; Stickler syndrome type III |
| c.2017C>T (p.Arg673Trp) | Missense | <0.01% | Likely pathogenic; hearing loss |
| c.IVS5+1G>A | Splice site | <0.01% | Splice donor loss; OSMED |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that reduce or eliminate COL11A2 protein production, typically recessive and cause OSMED or DFNB53.
Gain of Function (GOF)
Not described for COL11A2; no activating mutations reported.
Dominant Negative (DN)
Missense mutations in the triple-helix domain (e.g., Gly substitutions) that incorporate mutant chains into collagen fibrils, disrupting assembly and causing Stickler syndrome or DFNA13.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1650814)
• Assembly of collagen fibrils and other multimeric structures (Reactome: R-HSA-2022090)
• ECM proteoglycans (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
The COL11A2 protein (UniProt P13942) is a 173 kDa alpha-2 chain of type XI collagen. It contains a triple-helical domain with Gly-X-Y repeats and N- and C-terminal propeptides. After proteolytic processing, it assembles into heterotrimeric collagen XI molecules (alpha-1(XI) alpha-2(XI) alpha-3(XI)) that regulate fibril diameter in cartilage and other tissues. Mutations affecting the triple-helix domain cause dominant disorders, while complete loss leads to recessive phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL11A2 Knockout HEK293 Cell Line | EDJ-KQ4320 | Human | 1302 | Details Get a Quote |
| COL11A2 Knockout HCT 116 Cell Line | EDJ-KQ25521 | Human | 1302 | Details Get a Quote |
| COL11A2 Knockout HeLa Cell Line | EDJ-KQ52955 | Human | 1302 | Details Get a Quote |
| COL11A2 Knockout A-549 Cell Line | EDJ-KQ61422 | Human | 1302 | Details Get a Quote |
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