• Gene id: 55553

Gene Summary

• Gene Symbol: SOX6   Gene   UCSC   Ensembl
• Aliases: HSSOX6, SOXD
• Gene name: SRY-box transcription factor 6
• Alternate names: transcription factor SOX-6, SRY (sex determining region Y)-box 6, SRY-box 6, SRY-box containing gene 6,
• Gene location: 11p15.2 (16738476: 15966448)     Exons: 22     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The e
• OMIM: 607257

Protein Summary

• Protein general information: P35712  
  • Name: Transcription factor SOX 6
  • Length: 828  
  • Mass: 91921
  • Tissue specificity: Expressed in a wide variety of tissues, most abundantly in skeletal muscle. {ECO
• Sequence:

  MSSKQATSPFACAADGEDAMTQDLTSREKEEGSDQHVASHLPLHPIMHNKPHSEELPTLVSTIQQDADWDSVLSS
  QQRMESENNKLCSLYSFRNTSTSPHKPDEGSRDREIMTSVTFGTPERRKGSLADVVDTLKQKKLEEMTRTEQEDS
  SCMEKLLSKDWKEKMERLNTSELLGEIKGTPESLAEKERQLSTMITQLISLREQLLAAHDEQKKLAASQIEKQRQ
  QMDLARQQQEQIARQQQQLLQQQHKINLLQQQIQVQGHMPPLMIPIFPHDQRTLAAAAAAQQGFLFPPGITYKPG
  DNYPVQFIPSTMAAAAASGLSPLQLQKGHVSHPQINQRLKGLSDRFGRNLDTFEHGGGHSYNHKQIEQLYAAQLA
  SMQVSPGAKMPSTPQPPNTAGTVSPTGIKNEKRGTSPVTQVKDEAAAQPLNLSSRPKTAEPVKSPTSPTQNLFPA
  SKTSPVNLPNKSSIPSPIGGSLGRGSSLDILSSLNSPALFGDQDTVMKAIQEARKMREQIQREQQQQQPHGVDGK
  LSSINNMGLNSCRNEKERTRFENLGPQLTGKSNEDGKLGPGVIDLTRPEDAEGSKAMNGSAAKLQQYYCWPTGGA
  TVAEARVYRDARGRASSEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKSMSNQEKQPYYEEQA
  RLSKIHLEKYPNYKYKPRPKRTCIVDGKKLRIGEYKQLMRSRRQEMRQFFTVGQQPQIPITTGTGVVYPGAITMA
  TTTPSPQMTSDCSSTSASPEPSLPVIQSTYGMKTDGGSLAGNEMINGEDEMEMYDDYEDDPKSDYSSENEAPEAV
  SAN

• Structural information:
  • Interpro: IPR009071  IPR036910  IPR027153  
  • Prosite: PS50118
  • STRING: ENSP00000379644
• Other Databases: GeneCards:  SOX6  Malacards:  SOX6

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:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0007417	central nervous system development	IBA	biological process
GO:0045165	cell fate commitment	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0032332	positive regulation of chondrocyte differentiation	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0051216	cartilage development	ISS	biological process
GO:0002062	chondrocyte differentiation	ISS	biological process
GO:0001502	cartilage condensation	ISS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051216	cartilage development	IEA	biological process
GO:0048821	erythrocyte development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0021529	spinal cord oligodendrocyte cell differentiation	IEA	biological process
GO:0016458	gene silencing	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001217	DNA-binding transcription repressor activity	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000902	cell morphogenesis	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042692	muscle cell differentiation	IEA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0021778	oligodendrocyte cell fate specification	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048708	astrocyte differentiation	IEA	biological process
GO:2000726	negative regulation of cardiac muscle cell differentiation	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:2000741	positive regulation of mesenchymal stem cell differentiation	IDA	biological process
GO:0061036	positive regulation of cartilage development	IDA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IDA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IDA	biological process
GO:0021529	spinal cord oligodendrocyte cell differentiation	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0003677	DNA binding	NAS	molecular function
GO:0007517	muscle organ development	NAS	biological process
GO:0001217	DNA-binding transcription repressor activity	ISS	molecular function
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process

Diseases

Associated diseases	References
Malignant glioma	PMID:15696967
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881