COL11A2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | COL11A2 |
| Official Name | collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187] |
| Ensembl ID | ENSG00000204248 |
| Bio databases IDs | |
| Aliases | collagen type XI alpha 2 chain |
| Synonyms | collagen, type XI, alpha 2, collagen type XI alpha 2 chain, collagen, type XI, α 2, collagen type XI α 2 chain, DFNA13, DFNB53, FBCG2, HKE5, LOC100911886, OSMEDA, OSMEDB, PARP, STL3, XIG2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human COL11A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fibrillar collagen C-terminal domain
- LamG
- Collagen triple helix repeat (20 copies)
- protein binding
- laminin G domain
Pathways
Biological processes and signaling networks where the COL11A2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin-dependent diabetes mellitus
- infantile hypophosphatasia
- Peyronie disease
- hereditary disorder
- autosomal dominant deafness type 13
- Dupuytren contracture
- fibrochondrogenesis type 2
- autosomal recessive deafness type 53
- autosomal recessive otospondylomegaepiphyseal dysplasia
- osteoarthritis
role in cell
- organization
- abnormal morphology
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL11A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- soft palate development
- skeletal system development
- palate development
- collagen fibril organization
- cartilage development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- collagen
- collagen type XI
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- extracellular matrix structural constituent conferring tensile strength
- heparin binding
- protein binding, bridging