Homo sapiens Gene: SOX10
Summary
InnateDB Gene IDBG-7212.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SOX10
Gene Name SRY (sex determining region Y)-box 10
Synonyms DOM; PCWH; WS2E; WS4; WS4C
Species Homo sapiens
Ensembl Gene ENSG00000100146
Encoded Proteins
SRY (sex determining region Y)-box 10
SRY (sex determining region Y)-box 10
SRY (sex determining region Y)-box 10
SRY (sex determining region Y)-box 10
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:37970686-37987422
Strand Reverse strand
Band q13.1
Transcripts
ENST00000360880 ENSP00000354130
ENST00000396884 ENSP00000380093
ENST00000446929 ENSP00000399777
ENST00000427770 ENSP00000414853
ENST00000470555
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
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0031315 extrinsic component of mitochondrial outer membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL A6PVD3
UniProt Splice Variant
Entrez Gene 6663
UniGene Hs.376984
RefSeq NM_006941
HUGO HGNC:11190
OMIM 602229
CCDS CCDS13964
HPRD 03752
IMGT
EMBL AL031587
GenPept
RNA Seq Atlas 6663