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 and skeletal system development. Predicted to localize to cytoplasm; extracellular matrix; and extracellular space. Is expressed in several structures, including axis; head; hypochord; nervous system; and pectoral fin. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 2; and osteochondrodysplasia. 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
Domain Details Per Protein
Protein | Length | Collagen superfamily | Collagen triple helix repeat |
---|---|---|---|
UniProtKB:Q1LXU2
|
691 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
col9a2-201
(1)
|
Ensembl | 3,163 nt | ||
ncRNA |
col9a2-002
(1)
|
Ensembl | 720 nt | ||
ncRNA |
col9a2-003
(1)
|
Ensembl | 823 nt |
Interactions and Pathways
No data available
Plasmids
No data available