Gene
col9a3
- ID
- ZDB-GENE-030131-9799
- Name
- collagen, type IX, alpha 3
- Symbol
- col9a3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to localize to extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in multiple epiphyseal dysplasia 3 and osteochondrodysplasia. Is expressed in several structures, including head mesenchyme; hypochord; mesoderm; notochord; and pectoral fin. Orthologous to human COL9A3 (collagen type IX alpha 3 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb367 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| multiple epiphyseal dysplasia 3 | Alliance | Epiphyseal dysplasia, multiple, 3, with or without myopathy | 600969 |
| Stickler syndrome, type VI | 620022 | ||
| {Intervertebral disc disease, susceptibility to} | 603932 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen superfamily | Collagen triple helix repeat |
|---|---|---|---|
|
UniProtKB:F1R1F1
|
679 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col9a3-201
(1)
|
Ensembl | 3,113 nt |
Interactions and Pathways
No data available
Plasmids
No data available