• Gene id: 6657

Gene Summary

• Gene Symbol: SOX2   Gene   UCSC   Ensembl
• Aliases: ANOP3, MCOPS3
• Gene name: SRY-box 2
• Alternate names: transcription factor SOX-2, SRY (sex determining region Y)-box 2, SRY-related HMG-box gene 2, sex determining region Y-box 2, transcription factor SOX2,
• Gene location: 3q26.33 (181711923: 181714435)     Exons: 1     NC_000003.12
• Gene summary(Entrez): This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenanc
• OMIM: 184429

Protein Summary

• Protein general information: P48431  
  • Name: Transcription factor SOX 2
  • Length: 317  
  • Mass: 34,310
• Sequence:

  MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRL
  GAEWKLLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLMKKDKYTLPGGLLAPGGNSMASGVGVGAGLG
  AGVNQRMDSYAHMNGWSNGSYSMMQDQLGYPQHPGLNAHGAAQMQPMHRYDVSALQYNSMTSSQTYMNGSPTYSM
  SYSQQGTPGMALGSMGSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQS
  GPVPGTAINGTLPLSHM

• Structural information:
  • Interpro: IPR009071  IPR036910  IPR032643  IPR022097  
  • Prosite: PS50118
  • PDB: 1O4X 2LE4
  • PDBsum: 1O4X 2LE4
  • DIP: 59913
  • STRING: ENSP00000323588
• Other Databases: GeneCards:  SOX2  Malacards:  SOX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0001654	eye development	IEP	biological process
GO:0001714	endodermal cell fate specification	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	NAS	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	IC	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006325	chromatin organization	NAS	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007050	cell cycle arrest	IDA	biological process
GO:0009611	response to wounding	IEP	biological process
GO:0010468	regulation of gene expression	IMP	biological process
GO:0021781	glial cell fate commitment	NAS	biological process
GO:0021983	pituitary gland development	IEP	biological process
GO:0021984	adenohypophysis development	IEA	biological process
GO:0022409	positive regulation of cell-cell adhesion	IEA	biological process
GO:0030900	forebrain development	IEP	biological process
GO:0035019	somatic stem cell population maintenance	IMP	biological process
GO:0035019	somatic stem cell population maintenance	IDA	biological process
GO:0035019	somatic stem cell population maintenance	IMP	biological process
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0035198	miRNA binding	IDA	molecular function
GO:0042246	tissue regeneration	IEA	biological process
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048839	inner ear development	IEP	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IDA	biological process
GO:0070848	response to growth factor	IDA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0097150	neuronal stem cell population maintenance	ISS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0001654	eye development	IEP	biological process
GO:0001714	endodermal cell fate specification	IDA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	NAS	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	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IC	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006325	chromatin organization	NAS	biological process
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:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007050	cell cycle arrest	IDA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0009611	response to wounding	IEP	biological process
GO:0010468	regulation of gene expression	IMP	biological process
GO:0021781	glial cell fate commitment	NAS	biological process
GO:0021983	pituitary gland development	IEP	biological process
GO:0021984	adenohypophysis development	IEA	biological process
GO:0022409	positive regulation of cell-cell adhesion	IEA	biological process
GO:0030900	forebrain development	IEP	biological process
GO:0035019	somatic stem cell population maintenance	IMP	biological process
GO:0035019	somatic stem cell population maintenance	IDA	biological process
GO:0035019	somatic stem cell population maintenance	IMP	biological process
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0035198	miRNA binding	IDA	molecular function
GO:0042246	tissue regeneration	IEA	biological process
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048839	inner ear development	IEP	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IDA	biological process
GO:0070848	response to growth factor	IDA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0097150	neuronal stem cell population maintenance	ISS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0001654	eye development	IEP	biological process
GO:0001714	endodermal cell fate specification	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	NAS	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	IC	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006325	chromatin organization	NAS	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0007050	cell cycle arrest	IDA	biological process
GO:0009611	response to wounding	IEP	biological process
GO:0010468	regulation of gene expression	IMP	biological process
GO:0021781	glial cell fate commitment	NAS	biological process
GO:0021983	pituitary gland development	IEP	biological process
GO:0030900	forebrain development	IEP	biological process
GO:0035019	somatic stem cell population maintenance	IMP	biological process
GO:0035019	somatic stem cell population maintenance	IDA	biological process
GO:0035019	somatic stem cell population maintenance	IMP	biological process
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0035198	miRNA binding	IDA	molecular function
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045665	negative regulation of neuron differentiation	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048839	inner ear development	IEP	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IDA	biological process
GO:0070848	response to growth factor	IDA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0097150	neuronal stem cell population maintenance	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Microphthalmia	OMIM: 184429
Septo-optic dysplasia	KEGG: H00544
Anophthalmos	GAD: 20494911
Myopia	GAD: 17898260
Anophthalmia and microphthalmia	KEGG: H01027
Optic nerve diseases	OMIM: 184429
Diabetes	GAD: 20667095
Endometriosis	INFBASE: 20850729
Hypogonadotropic hypogonadism	INFBASE: 17287405
Ovarian endometriosis	INFBASE: 24884521
Hypopituitarism	MIK: 24211324
Hypopituitarism	INFBASE: 24211324
Hypopituitarism	MIK: 24211324
Anterior pituitary hypoplasia	MIK: 24211324
Hypogonadotropic hypogonadism	MIK: 24211324
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24211324	Hypopituitarism, with anterior pituitary hypoplasia, hypogonadotropic hypogonadism	c905delC		1 patient with hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism	Male infertiltiy
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881