Gene
col9a1b
- ID
- ZDB-GENE-040426-2410
- Name
- collagen, type IX, alpha 1b
- Symbol
- col9a1b Nomenclature History
- Previous Names
-
- col9a1
- cb339 (1)
- sb:cb339
- wu:fa12a12
- wu:fa12d02
- wu:fc22c08
- wu:fc38d08
- zgc:85892
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 6; and osteochondrodysplasia. Is expressed in several structures, including hypochord; immature eye; mesenchyme derived from head mesoderm; notochord; and sensory system. Orthologous to human COL9A1 (collagen type IX alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb339 (13 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 6 | Alliance | ?Epiphyseal dysplasia, multiple, 6 | 614135 |
| Stickler syndrome, type IV | 614134 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen superfamily | Collagen triple helix repeat |
|---|---|---|---|
|
UniProtKB:Q6NUV1
|
568 | ||
|
UniProtKB:B8A4T6
|
681 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col9a1b-201
(1)
|
Ensembl | 2,805 nt | ||
| mRNA |
col9a1b-202
(1)
|
Ensembl | 2,297 nt |
Interactions and Pathways
No data available
Plasmids
No data available