InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SOX10

Summary

InnateDB Protein

IDBP-7214.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SOX10

Protein Name

SRY (sex determining region Y)-box 10

Synonyms

DOM; PCWH; WS2E; WS4; WS4C;

Species

Homo sapiens

Ensembl Protein

ENSP00000354130

InnateDB Gene

IDBG-7212 (SOX10)

Protein Structure

UniProt Annotation

Function

Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm. Nucleus.

Disease Associations

Waardenburg syndrome 2E (WS2E) [MIM:611584]: An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome. {ECO:0000269PubMed:10441344, ECO:0000269PubMed:17999358, ECO:0000269PubMed:21898658}. Note=The disease is caused by mutations affecting the gene represented in this entry.Waardenburg syndrome 4C (WS4C) [MIM:613266]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). {ECO:0000269PubMed:18348274, ECO:0000269PubMed:21898658, ECO:0000269PubMed:9462749}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]: A complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease. {ECO:0000269PubMed:10762540, ECO:0000269PubMed:15004559, ECO:0000269PubMed:19208381, ECO:0000269PubMed:21898658}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in fetal brain and in adult brain, heart, small intestine and colon.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.