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Gene id

6778

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (57111432: 57095403) 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 translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

OMIM

601512

SNPs

rs324015

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000674.2   g.57096317T>C
NC_000012.11   g.57490100T>C
NC_000012.12   g.57096317T>C
NG_021272.1   g.20097A>G
NM_001178078.1   c.*255A>G
NM_001178079.1   c.*255A>G
NM_001178080.1   c.*255A>G
NM_001178081.1   c.*255A>G
NM_003153.4   c.*255A>G
NR_033659.1   n.2966A>G

Protein Summary

Protein general information

P42226

Name: Signal transducer and activator of transcription 6 (IL 4 Stat)

Length: 847 Mass: 94,135

Sequence

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

Structural information

Protein Domains	SH2. (517-632)
Motifs	LXXLL motif.(802-806)
Interpro:	IPR008967 IPR000980 IPR001217 IPR028187 IPR013800 IPR015988 IPR013801 IPR012345 IPR013799
Prosite:	PS50001
Pfam:	PF00017 PF14596 PF01017 PF02864 PF02865
PDB:	1OJ5 4Y5U 4Y5W 5D39
PDBsum:	1OJ5 4Y5U 4Y5W 5D39
DIP:	39855
MINT:	8020389
STRING:	ENSP00000300134;

Other Databases

GeneCards: STAT6; Malacards: STAT6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000790	nuclear chromatin	IEA	cellular_component
GO:0000979	RNA polymerase II core pr omoter sequence-specific DNA binding	IEA	molecular_function
GO:0002296	T-helper 1 cell lineage c ommitment	IEA	biological_process
GO:0002829	negative regulation of ty pe 2 immune response	IEA	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0004871	signal transducer activit y	IEA	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:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	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:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0019903	protein phosphatase bindi ng	IPI	molecular_function
GO:0032481	positive regulation of ty pe I interferon productio n	TAS	biological_process
GO:0033598	mammary gland epithelial cell proliferation	IEA	biological_process
GO:0035771	interleukin-4-mediated si gnaling pathway	IMP	biological_process
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0045121	membrane raft	IEA	cellular_component
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0048295	positive regulation of is otype switching to IgE is otypes	IEA	biological_process
GO:0060443	mammary gland morphogenes is	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:1902170	cellular response to reac tive nitrogen species	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000790	nuclear chromatin	IEA	cellular_component
GO:0000979	RNA polymerase II core pr omoter sequence-specific DNA binding	IEA	molecular_function
GO:0002296	T-helper 1 cell lineage c ommitment	IEA	biological_process
GO:0002829	negative regulation of ty pe 2 immune response	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0004871	signal transducer activit y	IEA	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:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	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:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IEA	biological_process
GO:0019903	protein phosphatase bindi ng	IPI	molecular_function
GO:0032481	positive regulation of ty pe I interferon productio n	TAS	biological_process
GO:0033598	mammary gland epithelial cell proliferation	IEA	biological_process
GO:0034097	response to cytokine	IEA	biological_process
GO:0035771	interleukin-4-mediated si gnaling pathway	IEA	biological_process
GO:0035771	interleukin-4-mediated si gnaling pathway	IMP	biological_process
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045121	membrane raft	IEA	cellular_component
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0048295	positive regulation of is otype switching to IgE is otypes	IEA	biological_process
GO:0060443	mammary gland morphogenes is	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:1902170	cellular response to reac tive nitrogen species	IEA	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	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:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	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:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0019903	protein phosphatase bindi ng	IPI	molecular_function
GO:0032481	positive regulation of ty pe I interferon productio n	TAS	biological_process
GO:0035771	interleukin-4-mediated si gnaling pathway	IMP	biological_process
GO:0042802	identical protein binding	IPI	molecular_function

KEGG pathways

hsa05161  Hepatitis B
hsa04630  Jak-STAT signaling pathway
hsa04659  Th17 cell differentiation
hsa05321  Inflammatory bowel disease
hsa04658  Th1 and Th2 cell differentiation
hsa04217  Necroptosis

Diseases

Associated diseases	References
Allergies	PMID: 11678849
Arthritis	PMID: 11981324
Asthma	PMID: 15637551
Atopy	PMID: 15342695
Crohn's disease	PMID: 15888279
Dermatitis	PMID: 16681592
Eczema	PMID: 17121586
Endometriosis	PMID: 17213269
Esophagitis	PMID: 20208534
Graves disease	PMID: 17362266
Female infertility	INFBASE17213269
Endometriosis	INFBASE17213269
Nephrotic syndrome	PMID: 12900808
Ulcerative colitis	PMID: 17074026

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
17213269	Endometrio sis	STAT6 (G2964A 3'-UTR polymorphism)	South I ndian	442 (232 affect ed women, 210 c ontrol women)	Female infertility	STAT6	Show abstract