• Gene id: 6664

Gene Summary

• Gene Symbol: SOX11   Gene   UCSC   Ensembl
• Aliases: CSS9, MRD27
• Gene name: SRY-box transcription factor 11
• Alternate names: transcription factor SOX-11, SRY (sex-determining region Y)-box 11, SRY-box 11, SRY-related HMG-box gene 11,
• Gene location: 2p25.2 (5692383: 5701384)     Exons: 19     NC_000002.12
• 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: 600898

Protein Summary

• Protein general information: P35716  
  • Name: Transcription factor SOX 11
  • Length: 441  
  • Mass: 46679
  • Tissue specificity: Expressed primarily in the brain and heart, with low expression in the kidney, pancreas and muscle. {ECO
• Sequence:

  MVQQAESLEAESNLPREALDTEEGEFMACSPVALDESDPDWCKTASGHIKRPMNAFMVWSKIERRKIMEQSPDMH
  NAEISKRLGKRWKMLKDSEKIPFIREAERLRLKHMADYPDYKYRPRKKPKMDPSAKPSASQSPEKSAAGGGGGSA
  GGGAGGAKTSKGSSKKCGKLKAPAAAGAKAGAGKAAQSGDYGGAGDDYVLGSLRVSGSGGGGAGKTVKCVFLDED
  DDDDDDDDELQLQIKQEPDEEDEEPPHQQLLQPPGQQPSQLLRRYNVAKVPASPTLSSSAESPEGASLYDEVRAG
  ATSGAGGGSRLYYSFKNITKQHPPPLAQPALSPASSRSVSTSSSSSSGSSSGSSGEDADDLMFDLSLNFSQSAHS
  ASEQQLGGGAAAGNLSLSLVDKDLDSFSEGSLGSHFEFPDYCTPELSEMIAGDWLEANFSDLVFTY

• Structural information:
  • Interpro: IPR009071  IPR036910  IPR029551  IPR017386  
  • Prosite: PS50118
  • STRING: ENSP00000322568
• Other Databases: GeneCards:  SOX11  Malacards:  SOX11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001822	kidney development	IEA	biological process
GO:0003357	noradrenergic neuron differentiation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0014003	oligodendrocyte development	IEA	biological process
GO:2000678	negative regulation of transcription regulatory region DNA binding	IEA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0001841	neural tube formation	IEA	biological process
GO:0003357	noradrenergic neuron differentiation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0014009	glial cell proliferation	IEA	biological process
GO:0014032	neural crest cell development	IEA	biological process
GO:0021510	spinal cord development	IEA	biological process
GO:0021782	glial cell development	IEA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0035332	positive regulation of hippo signaling	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045778	positive regulation of ossification	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0046887	positive regulation of hormone secretion	IEA	biological process
GO:0050769	positive regulation of neurogenesis	IEA	biological process
GO:0060174	limb bud formation	IEA	biological process
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0060563	neuroepithelial cell differentiation	IEA	biological process
GO:0061029	eyelid development in camera-type eye	IEA	biological process
GO:0061053	somite development	IEA	biological process
GO:0061386	closure of optic fissure	IEA	biological process
GO:2001111	positive regulation of lens epithelial cell proliferation	IEA	biological process
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008283	cell population proliferation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0002089	lens morphogenesis in camera-type eye	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003211	cardiac ventricle formation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048485	sympathetic nervous system development	IEA	biological process
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0060022	hard palate development	IEA	biological process
GO:0060023	soft palate development	IEA	biological process
GO:0060253	negative regulation of glial cell proliferation	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060425	lung morphogenesis	IEA	biological process
GO:0061303	cornea development in camera-type eye	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0072395	signal transduction involved in cell cycle checkpoint	IEP	biological process
GO:0061053	somite development	ISS	biological process
GO:0061029	eyelid development in camera-type eye	ISS	biological process
GO:0060563	neuroepithelial cell differentiation	ISS	biological process
GO:0060548	negative regulation of cell death	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045669	positive regulation of osteoblast differentiation	IMP	biological process
GO:0045666	positive regulation of neuron differentiation	IMP	biological process
GO:0021782	glial cell development	ISS	biological process
GO:0021510	spinal cord development	ISS	biological process
GO:0008284	positive regulation of cell population proliferation	ISS	biological process
GO:0003357	noradrenergic neuron differentiation	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0061303	cornea development in camera-type eye	ISS	biological process
GO:0060425	lung morphogenesis	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0060022	hard palate development	ISS	biological process
GO:0048704	embryonic skeletal system morphogenesis	ISS	biological process
GO:0048485	sympathetic nervous system development	ISS	biological process
GO:0003211	cardiac ventricle formation	ISS	biological process
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:2001111	positive regulation of lens epithelial cell proliferation	ISS	biological process
GO:2000678	negative regulation of transcription regulatory region DNA binding	ISS	biological process
GO:0061386	closure of optic fissure	ISS	biological process
GO:0060174	limb bud formation	ISS	biological process
GO:0050769	positive regulation of neurogenesis	ISS	biological process
GO:0046887	positive regulation of hormone secretion	ISS	biological process
GO:0045778	positive regulation of ossification	IMP	biological process
GO:0035332	positive regulation of hippo signaling	ISS	biological process
GO:0030513	positive regulation of BMP signaling pathway	ISS	biological process
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IEP	biological process
GO:0014032	neural crest cell development	ISS	biological process
GO:0014009	glial cell proliferation	ISS	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0001841	neural tube formation	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:2000648	positive regulation of stem cell proliferation	IMP	biological process
GO:0060253	negative regulation of glial cell proliferation	IMP	biological process
GO:0060023	soft palate development	ISS	biological process
GO:0050672	negative regulation of lymphocyte proliferation	IMP	biological process
GO:0048557	embryonic digestive tract morphogenesis	ISS	biological process
GO:0030182	neuron differentiation	IEP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0002089	lens morphogenesis in camera-type eye	ISS	biological process
GO:0001501	skeletal system development	ISS	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Coffin-Siris syndrome	KEGG:H01403
Autosomal dominant mental retardation	KEGG:H00773
Coffin-Siris syndrome	KEGG:H01403
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881