• Gene id: 6658

Gene Summary

• Gene Symbol: SOX3   Gene   UCSC   Ensembl
• Aliases: GHDX, MRGH, PHP, PHPX, SOXB
• Gene name: SRY-box 3
• Alternate names: transcription factor SOX-3, SRY (sex determining region Y)-box 3,
• Gene location: Xq27.1 (140505059: 140502986)     Exons: 1     NC_000023.11
• 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 regulator after for
• OMIM: 313430

Protein Summary

• Protein general information: P41225  
  • Name: Transcription factor SOX 3
  • Length: 446  
  • Mass: 45,210
• Sequence:

  MRPVRENSSGARSPRVPADLARSILISLPFPPDSLAHRPPSSAPTESQGLFTVAAPAPGAPSPPATLAHLLPAPA
  MYSLLETELKNPVGTPTQAAGTGGPAAPGGAGKSSANAAGGANSGGGSSGGASGGGGGTDQDRVKRPMNAFMVWS
  RGQRRKMALENPKMHNSEISKRLGADWKLLTDAEKRPFIDEAKRLRAVHMKEYPDYKYRPRRKTKTLLKKDKYSL
  PSGLLPPGAAAAAAAAAAAAAAASSPVGVGQRLDTYTHVNGWANGAYSLVQEQLGYAQPPSMSSPPPPPALPPMH
  RYDMAGLQYSPMMPPGAQSYMNVAAAAAAASGYGGMAPSATAAAAAAYGQQPATAAAAAAAAAAMSLGPMGSVVK
  SEPSSPPPAIASHSQRACLGDLRDMISMYLPPGGDAADAASPLPGGRLHGVHQHYQGAGTAVNGTVPLTHI

• Structural information:
  • Interpro: IPR009071  IPR036910  IPR022097  
  • Prosite: PS50118
  • STRING: ENSP00000359567
• Other Databases: GeneCards:  SOX3  Malacards:  SOX3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	ISS	molecular function
GO:0001106	RNA polymerase II transcription corepressor activity	ISS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0007423	sensory organ development	ISS	biological process
GO:0007530	sex determination	IMP	biological process
GO:0021854	hypothalamus development	ISS	biological process
GO:0021983	pituitary gland development	ISS	biological process
GO:0045665	negative regulation of neuron differentiation	ISS	biological process
GO:0048666	neuron development	IEA	biological process
GO:0060324	face development	ISS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	ISS	molecular function
GO:0001106	RNA polymerase II transcription corepressor activity	ISS	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	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:0007275	multicellular organism development	IEA	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0007423	sensory organ development	ISS	biological process
GO:0007530	sex determination	IEA	biological process
GO:0007530	sex determination	IMP	biological process
GO:0021854	hypothalamus development	ISS	biological process
GO:0021983	pituitary gland development	ISS	biological process
GO:0045665	negative regulation of neuron differentiation	ISS	biological process
GO:0048666	neuron development	IEA	biological process
GO:0060324	face development	ISS	biological process
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	ISS	molecular function
GO:0001106	RNA polymerase II transcription corepressor activity	ISS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007417	central nervous system development	TAS	biological process
GO:0007423	sensory organ development	ISS	biological process
GO:0007530	sex determination	IMP	biological process
GO:0021854	hypothalamus development	ISS	biological process
GO:0021983	pituitary gland development	ISS	biological process
GO:0045665	negative regulation of neuron differentiation	ISS	biological process
GO:0060324	face development	ISS	biological process

Diseases

Associated diseases	References
Septo-optic dysplasia	KEGG: H00544
Pituitary dwarfism	KEGG: H00254
Alzheimer's disease	GAD: 19141999
Oligozoospermia	GAD: 15292361
Congenital adrenal hyperplasia	KEGG: H00216
Hypogonadotropic hypogonadism	MIK: 25064402
Oligoazoospermia	MIK: 15292361
Hypopituitarism	GAD: 20534763
Syndromic X-linked mental retardation	KEGG: H00658
46,XX ovotesticular Disorders of sex development	MIK: 27260338
Associated with male testis differentiation and gametogenesis	MIK: 14585968
Hypospadias	MIK: 31523625
Idiopathic hypogonadotropic hypogonadism (IHH)	MIK: 25064402
Spermatogenic defects	MIK: 22056784
Male infertility	MIK: 15292361
Oligoazoospermia	MIK: 15292361
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15292361	Male infertility, idiopathic oligo-azoospermia	609 T-->C, 732 A-->C, and 978 G-->A		56 infertile men with idiopathic oligo-azoospermia	Male infertility
25064402	Idiopathic hypogonadotropic hypogonadism (IHH)			58 (58 patients with isolated HH (IHH), combined pituitary hormone deficiency (CPHD), and syndromic HH)	Male infertility, Female infertility	FGFR1 SOX3 WDR11
21248142	Promotes differentiation of spermatogonia in prepubertal mice				Male infertility
14585968	Associated with male testis differentiation and gametogenesis				Male infertility
22056784	Important for spermaogonial differentiation				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
27260338	46,XX ovotesticular DSD	SOX3 gene duplication		1 case	Male infertility
31523625	Hypospadias	SOX3 gene duplications in a 46,XX SRY-negative male		1	Male infertility