Gene
sox10
- ID
- ZDB-GENE-011207-1
- Name
- SRY-box transcription factor 10
- Symbol
- sox10 Nomenclature History
- Previous Names
- 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 inner ear development; iridophore differentiation; and nervous system development. Predicted to localize to nucleus. Used to study Hirschsprung's disease and Waardenburg's syndrome. Human ortholog(s) of this gene implicated in Kallmann syndrome; PCWH syndrome; Waardenburg syndrome type 2E; and Waardenburg syndrome type 4C. Is expressed in several structures, including glioblast; head; iridoblast; nervous system; and neural crest. Orthologous to human SOX10 (SRY-box transcription factor 10).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 284 figures from 187 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 73 figures from 34 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
PCWH syndrome | Alliance | PCWH syndrome | 609136 |
Waardenburg syndrome type 2E | Alliance | Waardenburg syndrome, type 2E, with or without neurologic involvement | 611584 |
Waardenburg syndrome type 4C | Alliance | Waardenburg syndrome, type 4C | 613266 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Waardenburg syndrome | sox10t3/t3 | standard conditions | Dutton et al., 2001 |
Waardenburg syndrome | sox10m618/m618 (AB) | standard conditions | Dutton et al., 2001 |
Hirschsprung's disease | sox10t3/t3 | control | Rolig et al., 2017 |
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:Q90XD1
|
485 |
Interactions and Pathways
No data available
Plasmids
No data available