• Gene id: 6659

Gene Summary

• Gene Symbol: SOX4   Gene   UCSC   Ensembl
• Aliases: CSS10, EVI16
• Gene name: SRY-box transcription factor 4
• Alternate names: transcription factor SOX-4, SRY (sex determining region Y)-box 4, SRY-box 4, SRY-related HMG-box gene 4, ecotropic viral integration site 16,
• Gene location: 6p22.3 (21593750: 21598618)     Exons: 1     NC_000006.12
• Gene summary(Entrez): This intronless 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 regulato
• OMIM: 182266

Protein Summary

• Protein general information: Q06945  
  • Name: Transcription factor SOX 4
  • Length: 474  
  • Mass: 47263
  • Tissue specificity: Testis, brain, and heart.
• Sequence:

  MVQQTNNAENTEALLAGESSDSGAGLELGIASSPTPGSTASTGGKADDPSWCKTPSGHIKRPMNAFMVWSQIERR
  KIMEQSPDMHNAEISKRLGKRWKLLKDSDKIPFIREAERLRLKHMADYPDYKYRPRKKVKSGNANSSSSAAASSK
  PGEKGDKVGGSGGGGHGGGGGGGSSNAGGGGGGASGGGANSKPAQKKSCGSKVAGGAGGGVSKPHAKLILAGGGG
  GGKAAAAAAASFAAEQAGAAALLPLGAAADHHSLYKARTPSASASASSAASASAALAAPGKHLAEKKVKRVYLFG
  GLGTSSSPVGGVGAGADPSDPLGLYEEEGAGCSPDAPSLSGRSSAASSPAAGRSPADHRGYASLRAASPAPSSAP
  SHASSSASSHSSSSSSSGSSSSDDEFEDDLLDLNPSSNFESMSLGSFSSSSALDRDLDFNFEPGSGSHFEFPDYC
  TPEVSEMISGDWLESSISNLVFTY

• Structural information:
  • Interpro: IPR009071  IPR036910  IPR017386  
  • Prosite: PS50118
  • DIP: 58650
  • STRING: ENSP00000244745
• Other Databases: GeneCards:  SOX4  Malacards:  SOX4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0060993	kidney morphogenesis	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0048485	sympathetic nervous system development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045588	positive regulation of gamma-delta T cell differentiation	IEA	biological process
GO:0035910	ascending aorta morphogenesis	IEA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0031018	endocrine pancreas development	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003215	cardiac right ventricle morphogenesis	IEA	biological process
GO:0003211	cardiac ventricle formation	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0060563	neuroepithelial cell differentiation	IEA	biological process
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0060174	limb bud formation	IEA	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0035198	miRNA binding	IEA	molecular function
GO:0021782	glial cell development	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0021510	spinal cord development	IEA	biological process
GO:0014009	glial cell proliferation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003357	noradrenergic neuron differentiation	IEA	biological process
GO:0003289	atrial septum primum morphogenesis	IEA	biological process
GO:0003183	mitral valve morphogenesis	IEA	biological process
GO:0002328	pro-B cell differentiation	IEA	biological process
GO:0001841	neural tube formation	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0002328	pro-B cell differentiation	ISS	biological process
GO:0003183	mitral valve morphogenesis	ISS	biological process
GO:0003289	atrial septum primum morphogenesis	ISS	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	ISS	biological process
GO:0030217	T cell differentiation	ISS	biological process
GO:0035910	ascending aorta morphogenesis	ISS	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0060993	kidney morphogenesis	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0042769	DNA damage response, detection of DNA damage	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:2000761	positive regulation of N-terminal peptidyl-lysine acetylation	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0071333	cellular response to glucose stimulus	ISS	biological process
GO:0060563	neuroepithelial cell differentiation	ISS	biological process
GO:0060548	negative regulation of cell death	ISS	biological process
GO:0060174	limb bud formation	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045727	positive regulation of translation	IMP	biological process
GO:0031397	negative regulation of protein ubiquitination	IMP	biological process
GO:0021782	glial cell development	ISS	biological process
GO:0021522	spinal cord motor neuron differentiation	ISS	biological process
GO:0014009	glial cell proliferation	ISS	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IMP	biological process
GO:0001841	neural tube formation	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0048485	sympathetic nervous system development	ISS	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003211	cardiac ventricle formation	ISS	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0021510	spinal cord development	ISS	biological process
GO:0003357	noradrenergic neuron differentiation	ISS	biological process
GO:0001501	skeletal system development	ISS	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0032024	positive regulation of insulin secretion	ISS	biological process
GO:0045588	positive regulation of gamma-delta T cell differentiation	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05206	MicroRNAs in cancer

Diseases

Associated diseases	References
Coffin-Siris syndrome	KEGG:H01403
Coffin-Siris syndrome	KEGG:H01403
urinary bladder cancer	PMID:16585165
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)