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 and skeletal system development. Predicted to localize to cytoplasm; extracellular matrix; and extracellular space. Is expressed in several structures, including head mesenchyme; hypochord; mesoderm; notochord; and pectoral fin. Human ortholog(s) of this gene implicated in multiple epiphyseal dysplasia 3 and osteochondrodysplasia. 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 | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
col9a3-201
(1)
|
Havana | 3113 nt |
Interactions and Pathways
No data available
Plasmids
No data available