Gene
sox9a
- ID
- ZDB-GENE-001103-1
- Name
- SRY-box transcription factor 9a
- Symbol
- sox9a Nomenclature History
- Previous Names
-
- jef (1)
- jellyfish
- wu:fj17b12
- zgc:111921
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Exhibits chromatin binding activity. Involved in cartilage morphogenesis; embryonic morphogenesis; and glial cell differentiation. Localizes to cytoplasm. Human ortholog(s) of this gene implicated in 46,XX sex reversal 2; 46,XY sex reversal 10; and campomelic dysplasia. Is expressed in several structures, including brain; ectoderm; head; reproductive system; and skeletal system. Orthologous to human SOX9 (SRY-box transcription factor 9).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 204 figures from 156 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 19 figures from 12 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| campomelic dysplasia | Alliance | Acampomelic campomelic dysplasia | 114290 |
| campomelic dysplasia | Alliance | Campomelic dysplasia | 114290 |
| campomelic dysplasia | Alliance | Campomelic dysplasia with autosomal sex reversal | 114290 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| campomelic dysplasia | sox9ahi1134Tg/hi1134Tg | standard conditions | (2) |
| campomelic dysplasia | sox9atw37/tw37 | standard conditions | Yan et al., 2002 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | High mobility group box domain | High mobility group box domain superfamily | Sox developmental protein N-terminal |
|---|---|---|---|---|
|
UniProtKB:Q9DFH2
|
462 |
Interactions and Pathways
No data available
Plasmids
No data available