Gene
sox3
- ID
- ZDB-GENE-980526-333
- Name
- SRY-box transcription factor 3
- Symbol
- sox3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Contributes to DNA-binding transcription factor activity. Involved in several processes, including nervous system development; otic placode development; and otic placode formation. Predicted to localize to nuclear transcription factor complex. Human ortholog(s) of this gene implicated in X-linked panhypopituitarism. Is expressed in several structures, including ectoderm; nervous system; neural keel; neural tube; and presumptive structure. Orthologous to human SOX3 (SRY-box transcription factor 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 112 figures from 57 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb493 (32 images)
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| X-linked panhypopituitarism | Alliance | Panhypopituitarism, X-linked | 312000 |
| Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency | 300123 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | High mobility group box domain | High mobility group box domain superfamily | Transcription factor SOX |
|---|---|---|---|---|
|
UniProtKB:Q6EJB7
|
300 | |||
|
UniProtKB:A9JSZ3
|
300 |
Interactions and Pathways
No data available
Plasmids
No data available