Gene
sox9b
- ID
- ZDB-GENE-001103-2
- Name
- SRY-box transcription factor 9b
- Symbol
- sox9b Nomenclature History
- Previous Names
-
- fb18d01
- wu:fb18d01 (1)
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in several processes, including animal organ development; embryonic pectoral fin morphogenesis; and iridophore differentiation. Predicted to localize to nucleus. 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 digestive system; head; nervous system; neural crest; and pleuroperitoneal region. Orthologous to human SOX9 (SRY-box transcription factor 9).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 123 figures from 95 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:76805 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 10 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 |
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 | SOX Transcription Factors |
|---|---|---|---|---|---|
|
UniProtKB:Q9DFH1
|
407 |
Interactions and Pathways
No data available
Plasmids