Gene
col9a2
- ID
- ZDB-GENE-030131-9786
- Name
- procollagen, type IX, alpha 2
- Symbol
- col9a2 Nomenclature History
- Previous Names
-
- cb343 (1)
- sb:cb343
- wu:fa12h02
- wu:fc93e05
- zgc:100808
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to localize to collagen type XI trimer and extracellular space. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 2; and osteochondrodysplasia. Is expressed in several structures, including axis; head; hypochord; nervous system; and pectoral fin. Orthologous to human COL9A2 (collagen type IX alpha 2 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 34 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb343 (17 images)
- IMAGE:7135988 (11 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 2 | Alliance | Epiphyseal dysplasia, multiple, 2 | 600204 |
| ?Stickler syndrome, type V | 614284 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Repeat | IPR008160 | Collagen triple helix repeat |
Domain Details Per Protein
| Protein | Length | Collagen triple helix repeat |
|---|---|---|
|
UniProtKB:Q1LXU2
|
691 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
col9a2-201
(1)
|
Havana | 3163 nt | |
| ncRNA |
col9a2-002
(1)
|
Havana | 720 nt | |
| ncRNA |
col9a2-003
(1)
|
Havana | 823 nt |
Interactions and Pathways
No data available
Plasmids
No data available