STAT6 (signal transducer and activator of transcription 6)

2003-02-01  

Identity

HGNC
STAT6
LOCATION
12q13.3
LOCUSID
6778
ALIAS
D12S1644,IL-4-STAT,STAT6B,STAT6C
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6778
MIM: 601512
HGNC: 11368
Ensembl: ENSG00000166888

Variants:

dbSNP: 6778
ClinVar: 6778
TCGA: ENSG00000166888
COSMIC: STAT6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166888ENST00000300134P42226
ENSG00000166888ENST00000454075P42226
ENSG00000166888ENST00000537215P42226
ENSG00000166888ENST00000538913P42226
ENSG00000166888ENST00000543873P42226
ENSG00000166888ENST00000553275G3V2L2
ENSG00000166888ENST00000553397G3V568
ENSG00000166888ENST00000553499G3V370
ENSG00000166888ENST00000553533H0YJH6
ENSG00000166888ENST00000554663G3V2H4
ENSG00000166888ENST00000554764Q5FBW6
ENSG00000166888ENST00000555104Q5FBW6
ENSG00000166888ENST00000555318H0YIY2
ENSG00000166888ENST00000555849G3V5K5
ENSG00000166888ENST00000556155P42226
ENSG00000166888ENST00000556259G3V5I8
ENSG00000166888ENST00000557635G3V2M3
ENSG00000166888ENST00000640254A0A1W2PNW1
ENSG00000166888ENST00000651176A0A494C0T4

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Jak-STAT signaling pathwayKEGGko04630
Jak-STAT signaling pathwayKEGGhsa04630
Hepatitis BKEGGhsa05161
Inflammatory bowel disease (IBD)KEGGhsa05321
Inflammatory bowel disease (IBD)KEGGko05321
JAK-STAT signalingKEGGhsa_M00684
JAK-STAT signalingKEGGM00684
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cytosolic sensors of pathogen-associated DNAREACTOMER-HSA-1834949
STING mediated induction of host immune responsesREACTOMER-HSA-1834941
STAT6-mediated induction of chemokinesREACTOMER-HSA-3249367
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Signal TransductionREACTOMER-HSA-162582
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659
Interleukin-4 and 13 signalingREACTOMER-HSA-6785807

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382382272024Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond.0
382851202024STAT6 mutations enriched at diffuse large B-cell lymphoma relapse reshape the tumor microenvironment.0
384595962024Exosome circATP8A1 induces macrophage M2 polarization by regulating the miR-1-3p/STAT6 axis to promote gastric cancer progression.2
382382272024Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond.0
382851202024STAT6 mutations enriched at diffuse large B-cell lymphoma relapse reshape the tumor microenvironment.0
384595962024Exosome circATP8A1 induces macrophage M2 polarization by regulating the miR-1-3p/STAT6 axis to promote gastric cancer progression.2
359181042023Vitamin D receptor and STAT6 interactome governs oesophageal epithelial barrier responses to IL-13 signalling.2
362160802023A germline STAT6 gain-of-function variant is associated with early-onset allergies.11
367578022023IL-13RA2 downregulation in fibroblasts promotes keloid fibrosis via JAK/STAT6 activation.7
368842182023Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.19
370433792023Signal Transducer and Activator of Transcription 6 Changes and Protein Frustration by Single Amino Acid Substitutions: Implications for Cancer Progression.0
370681042023ROP16-mediated activation of STAT6 enhances cyst development of type III Toxoplasma gondii in neurons.2
371060402023Dynamic chromatin accessibility licenses STAT5- and STAT6-dependent innate-like function of T(H)9 cells to promote allergic inflammation.1
371966362023Learning while treating: Gain-of-function STAT6 variants in severe allergic disease.1
373167632023Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.4

Citation

Dessen P

STAT6 (signal transducer and activator of transcription 6)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42432/favicon/js/lib/case-report-explorer/