Details
| Type | Protein Coding |
| Official Symbol | COL11A2 |
| Official Name | collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187] |
| Ensembl ID | ENSG00000206290 |
| Bio databases IDs | |
| Aliases | collagen type XI alpha 2 chain |
| Species | Human, Homo sapiens |
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.
phenotypes
- DEAFNESS AUTOSOMAL DOMINANT 13
- DEAFNESS AUTOSOMAL RECESSIVE 53
- FIBROCHONDROGENESIS 2
- OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT
- OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA AUTOSOMAL RECESSIVE
- AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
- DEAFNESS AUTOSOMAL DOMINANT TYPE 13
- DEAFNESS AUTOSOMAL RECESSIVE TYPE 53
- STICKLER SYNDROME TYPE 3