Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 6775
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol STAT4   Gene   UCSC   Ensembl
Aliases SLEB11
Gene name signal transducer and activator of transcription 4
Alternate names signal transducer and activator of transcription 4, signal transducer and activator of transcription 4 variant 3,
Gene location 2q32.2-q32.3 (191172683: 191029575)     Exons: 30     NC_000002.12
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 is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]
OMIM 600558

SNPs

rs11889341

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000664.2   g.191079016C>T
NC_000002.11   g.191943742C>T
NC_000002.12   g.191079016C>T
NG_012852.1   g.77184G>A
NM_001243835.1   c.274-2691G>A
NM_003151.3   c.274-2691G>A
rs7574865

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

CM000664.2   g.191099907T>G
NC_000002.11   g.191964633T=
NC_000002.11   g.191964633T>G
NC_000002.12   g.191099907T=
NC_000002.12   g.191099907T>G
NG_012852.1   g.56293A=
NG_012852.1   g.56293A>C
NM_001243835.1   c.274-23582A=
NM_001243835.1   c.274-23582A>C
NM_003151.3   c.274-23582A=
NM_003151.3   c.274-23582A>C
Clinical Significance: other

rs7582694

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

CM000664.2   g.191105394C>G
NC_000002.11   g.191970120C>G
NC_000002.12   g.191105394C>G
NG_012852.1   g.50806G>C
NM_001243835.1   c.274-29069G>C
NM_003151.3   c.274-29069G>C
rs7601754

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

CM000664.2   g.191075725G>A
CM000664.2   g.191075725G>T
NC_000002.11   g.191940451G>A
NC_000002.12   g.191075725G>A
NC_000002.12   g.191075725G>T
NG_012852.1   g.80475C>A
NG_012852.1   g.80475C>T
NM_001243835.1   c.372+502C>A
NM_001243835.1   c.372+502C>T
NM_003151.3   c.372+502C>A
NM_003151.3   c.372+502C>T

Protein Summary

Protein general information Q14765  

Name: Signal transducer and activator of transcription 4

Length: 748  Mass: 85,941

Sequence MSQWNQVQQLEIKFLEQVDQFYDDNFPMEIRHLLAQWIENQDWEAASNNETMATILLQNLLIQLDEQLGRVSKEK
NLLLIHNLKRIRKVLQGKFHGNPMHVAVVISNCLREERRILAAANMPVQGPLEKSLQSSSVSERQRNVEHKVAAI
KNSVQMTEQDTKYLEDLQDEFDYRYKTIQTMDQSDKNSAMVNQEVLTLQEMLNSLDFKRKEALSKMTQIIHETDL
LMNTMLIEELQDWKRRQQIACIGGPLHNGLDQLQNCFTLLAESLFQLRRQLEKLEEQSTKMTYEGDPIPMQRTHM
LERVTFLIYNLFKNSFVVERQPCMPTHPQRPLVLKTLIQFTVKLRLLIKLPELNYQVKVKASIDKNVSTLSNRRF
VLCGTNVKAMSIEESSNGSLSVEFRHLQPKEMKSSAGGKGNEGCHMVTEELHSITFETQICLYGLTIDLETSSLP
VVMISNVSQLPNAWASIIWYNVSTNDSQNLVFFNNPPPATLSQLLEVMSWQFSSYVGRGLNSDQLHMLAEKLTVQ
SSYSDGHLTWAKFCKEHLPGKSFTFWTWLEAILDLIKKHILPLWIDGYVMGFVSKEKERLLLKDKMPGTFLLRFS
ESHLGGITFTWVDHSESGEVRFHSVEPYNKGRLSALPFADILRDYKVIMAENIPENPLKYLYPDIPKDKAFGKHY
SSQPCEVSRPTERGDKGYVPSVFIPISTIRSDSTEPHSPSDLLPMSPSVYAVLRENLSPTTIETAMKSPYSAE
Structural information
Protein Domains
SH2. (569-664)
Interpro:  IPR008967 IPR000980 IPR036860 IPR001217 IPR029839 IPR035856 IPR036535 IPR013800 IPR015988 IPR013801 IPR012345 IPR013799
Prosite:   PS50001

Pfam:  
PF00017 PF01017 PF02864 PF02865
CDD:   cd10375

DIP:  
39854
MINT:  
STRING:   ENSP00000351255;
Other Databases GeneCards:  STAT4;  Malacards:  STAT4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000977 RNA polymerase II regulat
ory region sequence-speci
fic DNA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0007259 JAK-STAT cascade
TAS biological_process
GO:0000977 RNA polymerase II regulat
ory region sequence-speci
fic 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
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA 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:0007165 signal transduction
IEA biological_process
GO:0007259 JAK-STAT cascade
TAS biological_process
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005654 nucleoplasm
IDA cellular_component
GO:0007259 JAK-STAT cascade
TAS biological_process

KEGG pathways

hsa04217  Necroptosis
hsa04658  Th1 and Th2 cell differentiation
hsa05321  Inflammatory bowel disease (IBD)
hsa05161  Hepatitis B
hsa04630  Jak-STAT signaling pathway
hsa05200  Pathways in cancer

Diseases

Associated diseases References
Endometriosis INFBASE27235632
{Systemic lupus erythematosus, susceptibility to, 11} OMIM600558
Sjogren's syndrome KEGGH01502
Systemic sclerosis KEGGH01492

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
27235632 Endometrio
sis
rs7574865, rs7601754, rs7582694, rs11889341 Iranian
206 (114 patien
ts, 92 controls
)

Show abstract