InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SOX10

Summary

InnateDB Protein

IDBP-236565.6

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

ENSP00000380093

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.

Experimentally validated
Total	15 [view]
Protein-Protein	13 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001190	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0003713	transcription coactivator activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0042802	identical protein binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0001701	in utero embryonic development
GO:0001755	neural crest cell migration
GO:0002052	positive regulation of neuroblast proliferation
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0007422	peripheral nervous system development
GO:0009653	anatomical structure morphogenesis
GO:0014015	positive regulation of gliogenesis
GO:0030154	cell differentiation
GO:0030318	melanocyte differentiation
GO:0043066	negative regulation of apoptotic process
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048469	cell maturation
GO:0048484	enteric nervous system development
GO:0048546	digestive tract morphogenesis
GO:0048589	developmental growth
GO:0048709	oligodendrocyte differentiation
GO:0048863	stem cell differentiation
GO:0090090	negative regulation of canonical Wnt signaling pathway