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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]
STAT4 (Signal Transducer And Activator Of Transcription 4) is a Protein Coding gene. Diseases associated with STAT4 include Systemic Lupus Erythematosus 11 and Systemic Lupus Erythematosus. Among its related pathways are Immune response IL-23 signaling pathway and GPCR Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is STAT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA | 21873635 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA,TAS | 9284918 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Th17 cell differentiation |
Immune response IL-22 signaling pathway
.36
|
|
2 | IL27-mediated signaling events | ||
3 | CNTF Signaling |
CNTF Signaling
.50
FLT3 Signaling
.50
|
IL-3 Pathway
.46
|
4 | JAK-STAT signaling pathway | ||
5 | Jak Stat Signaling Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006952 | defense response | IBA | 21873635 |
GO:0007165 | signal transduction | IEA | -- |
GO:0007259 | JAK-STAT cascade | IBA | 21873635 |
GO:0019221 | cytokine-mediated signaling pathway | IEA,TAS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | STAT4 30 |
|
||
Cow (Bos Taurus) |
Mammalia | STAT4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | STAT4 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | STAT4 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Stat4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Stat4 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | STAT4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | STAT4 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | stat4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | stat4 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708166 | Benign: not provided | 191,036,258(-) | A/G | SYNONYMOUS_VARIANT | |
712050 | Likely Benign: not provided | 191,069,730(-) | G/A | SYNONYMOUS_VARIANT | |
714164 | Benign: not provided | 191,148,090(-) | A/G | SYNONYMOUS_VARIANT | |
715628 | Benign: not provided | 191,039,295(-) | G/T | SYNONYMOUS_VARIANT | |
719170 | Likely Benign: not provided | 191,062,887(-) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv25901 | CNV | loss | 19812545 |
esv2657029 | CNV | deletion | 23128226 |
esv2676475 | CNV | deletion | 23128226 |
esv2721278 | CNV | deletion | 23290073 |
esv2721279 | CNV | deletion | 23290073 |
esv2721280 | CNV | deletion | 23290073 |
esv3560730 | CNV | deletion | 23714750 |
esv3593761 | CNV | loss | 21293372 |
esv3593762 | CNV | gain | 21293372 |
nsv1133282 | CNV | tandem duplication | 24896259 |
nsv834493 | CNV | gain | 17160897 |
nsv999391 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
systemic lupus erythematosus 11 |
|
|
systemic lupus erythematosus |
|
|
lupus erythematosus |
|
|
pediatric systemic lupus erythematosus |
|
|
behcet syndrome |
|
|