Gene

sox10

ID

ZDB-GENE-011207-1

Name

SRY-box transcription factor 10

Symbol

sox10 Nomenclature History

Previous Names

sox10b (1)
cls
colorless (1)
colourless
golas (1)
gos (1)
zgc:100757

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

Expression

All Expression Data

285 figures from 188 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 73 figures from 34 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sox10 Human Ortholog

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

Associated With sox10 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Waardenburg syndrome	sox10^t3/t3	standard conditions	Dutton et al., 2001
Waardenburg syndrome	sox10^m618/m618 (AB)	standard conditions	Dutton et al., 2001
Hirschsprung's disease	sox10^t3/t3	control	Rolig et al., 2017

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR009071	High mobility group box domain
Domain	IPR022151	Sox developmental protein N-terminal
Family	IPR050917	SOX Transcription Factors
Homologous_superfamily	IPR036910	High mobility group box domain superfamily