• Gene id: 6663

Gene Summary

• Gene Symbol: SOX10   Gene   UCSC   Ensembl
• Aliases: DOM, PCWH, WS2E, WS4, WS4C
• Gene name: SRY-box 10
• Alternate names: transcription factor SOX-10, SRY (sex determining region Y)-box 10, SRY-related HMG-box gene 10, dominant megacolon, mouse, human homolog of,
• Gene location: 22q13.1 (37984531: 37972311)     Exons: 4     NC_000022.11
• Gene summary(Entrez): 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 for
• OMIM: 602229

Protein Summary

• Protein general information: P56693  
  • Name: Transcription factor SOX 10
  • Length: 466  
  • Mass: 49,911
• Sequence:

  MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPVCIREA
  VSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDK
  RPFIEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSD
  GNPEHPSGQSHGPPTPPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQY
  LPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPST
  SQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSH
  SPTHWEQPVYTTLSRP

• Structural information:
  • Interpro: IPR009071  IPR036910  IPR022151  
  • Prosite: PS50118
  • STRING: ENSP00000354130
• Other Databases: GeneCards:  SOX10  Malacards:  SOX10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	IEA	molecular function
GO:0001190	transcriptional activator activity, RNA polymerase II transcription factor binding	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007422	peripheral nervous system development	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0014015	positive regulation of gliogenesis	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0031315	extrinsic component of mitochondrial outer membrane	IEA	cellular component
GO:0032808	lacrimal gland development	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0048484	enteric nervous system development	IEA	biological process
GO:0048546	digestive tract morphogenesis	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0061138	morphogenesis of a branching epithelium	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	IEA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0001190	transcriptional activator activity, RNA polymerase II transcription factor binding	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007422	peripheral nervous system development	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0014015	positive regulation of gliogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0031315	extrinsic component of mitochondrial outer membrane	IEA	cellular component
GO:0032808	lacrimal gland development	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0044212	transcription regulatory region DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0048484	enteric nervous system development	IEA	biological process
GO:0048546	digestive tract morphogenesis	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0048863	stem cell differentiation	IEA	biological process
GO:0061138	morphogenesis of a branching epithelium	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cancer (melanoma)	GAD: 19422606
Waardenburg syndrome	KEGG: H00759
Hirschsprung disease	GAD: 17009072
Myelin deficiencies	GAD: 10482261
Schizophrenia	GAD: 17621166
Chronic renal failure	GAD: 21085059
Kallmann syndrome (KS)	MIK: 26228106
Congenital adrenal hyperplasia	KEGG: H00216
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Kallmann syndrome	MIK: 26228106

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26228106	Kallmann syndrome	p.Leu145Pro	Japanes e	1	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq