• Gene id: 6778

Gene Summary

• Gene Symbol: STAT6   Gene   UCSC   Ensembl
• Aliases: D12S1644, IL-4-STAT, STAT6B, STAT6C
• Gene name: signal transducer and activator of transcription 6
• Alternate names: signal transducer and activator of transcription 6, STAT, interleukin4-induced, signal transducer and activator of transcription 6, interleukin-4 induced, transcription factor IL-4 STAT,
• Gene location: 12q13.3 (57111412: 57095407)     Exons: 24     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that tran
• OMIM: 613486

SNPs

rs17855750

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.28503907A>C
NC_000016.10   g.28503907A>T
NC_000016.9   g.28515228A>C
NC_000016.9   g.28515228A>T
NM_145659.3   c.175T>G
NM_145659.3   c.175T>A
XM_011545780.2   c.181T>G
XM_011545780.2   c.181T>A
NP_663634.2   p.Ser59Ala
NP_663634.2   p.Ser59Thr
XP_01154  

rs153109

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.28507775T>C
NC_000016.9   g.28519096T>C|SEQ=[T/C]|GENE=IL27

Protein Summary

• Protein general information: P42226  
  • Name: Signal transducer and activator of transcription 6 (IL 4 Stat)
  • Length: 847  
  • Mass: 94135
• Sequence:

  MSLWGLVSKMPPEKVQRLYVDFPQHLRHLLGDWLESQPWEFLVGSDAFCCNLASALLSDTVQHLQASVGEQGEGS
  TILQHISTLESIYQRDPLKLVATFRQILQGEKKAVMEQFRHLPMPFHWKQEELKFKTGLRRLQHRVGEIHLLREA
  LQKGAEAGQVSLHSLIETPANGTGPSEALAMLLQETTGELEAAKALVLKRIQIWKRQQQLAGNGAPFEESLAPLQ
  ERCESLVDIYSQLQQEVGAAGGELEPKTRASLTGRLDEVLRTLVTSCFLVEKQPPQVLKTQTKFQAGVRFLLGLR
  FLGAPAKPPLVRADMVTEKQARELSVPQGPGAGAESTGEIINNTVPLENSIPGNCCSALFKNLLLKKIKRCERKG
  TESVTEEKCAVLFSASFTLGPGKLPIQLQALSLPLVVIVHGNQDNNAKATILWDNAFSEMDRVPFVVAERVPWEK
  MCETLNLKFMAEVGTNRGLLPEHFLFLAQKIFNDNSLSMEAFQHRSVSWSQFNKEILLGRGFTFWQWFDGVLDLT
  KRCLRSYWSDRLIIGFISKQYVTSLLLNEPDGTFLLRFSDSEIGGITIAHVIRGQDGSPQIENIQPFSAKDLSIR
  SLGDRIRDLAQLKNLYPKKPKDEAFRSHYKPEQMGKDGRGYVPATIKMTVERDQPLPTPELQMPTMVPSYDLGMA
  PDSSMSMQLGPDMVPQVYPPHSHSIPPYQGLSPEESVNVLSAFQEPHLQMPPSLGQMSLPFDQPHPQGLLPCQPQ
  EHAVSSPDPLLCSDVTMVEDSCLSQPVTAFPQGTWIGEDIFPPLLPPTEQDLTKLLLEGQGESGGGSLGAQPLLQ
  PSHYGQSGISMSHMDLRANPSW

• Structural information:
  • Protein Domains: (517..63-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191"-)
  • Interpro: IPR008967  IPR000980  IPR036860  IPR001217  IPR028187   IPR035857  IPR036535  IPR013800  IPR015988  IPR013801  IPR012345  IPR013799  
  • Prosite: PS50001
  • CDD: cd10377
  • PDB: 1OJ5 4Y5U 4Y5W 5D39 5NWM 5NWX
  • PDBsum: 1OJ5 4Y5U 4Y5W 5D39 5NWM 5NWX
  • DIP: 39855
  • STRING: ENSP00000300134
• Other Databases: GeneCards:  STAT6  Malacards:  STAT6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0042127	regulation of cell population proliferation	IBA	biological process
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0007259	receptor signaling pathway via JAK-STAT	IBA	biological process
GO:0006952	defense response	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0060397	growth hormone receptor signaling pathway via JAK-STAT	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043434	response to peptide hormone	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0035771	interleukin-4-mediated signaling pathway	IMP	biological process
GO:0019903	protein phosphatase binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0042802	identical 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0002296	T-helper 1 cell lineage commitment	IEA	biological process
GO:0002829	negative regulation of type 2 immune response	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0033598	mammary gland epithelial cell proliferation	IEA	biological process
GO:0035771	interleukin-4-mediated signaling pathway	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0060443	mammary gland morphogenesis	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0019221	cytokine-mediated signaling pathway	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:1902170	cellular response to reactive nitrogen species	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048295	positive regulation of isotype switching to IgE isotypes	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04217	Necroptosis
hsa04630	JAK-STAT signaling pathway
hsa05161	Hepatitis B
hsa04659	Th17 cell differentiation
hsa04658	Th1 and Th2 cell differentiation
hsa05321	Inflammatory bowel disease

Diseases

Associated diseases	References
Prostate cancer	PMID:17705178
Prostate cancer	PMID:11912448
Lipoid nephrosis	PMID:12900808
Urinary schistosomiasis	PMID:18273035
autosomal dominant polycystic kidney disease	PMID:16399078
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq