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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
STAT6
signal transducer and activator of transcription 6
Chromosome 12 Β· 12q13.3
NCBI Gene: 6778Ensembl: ENSG00000166888.14HGNC: HGNC:11368UniProt: A8K4S9
404PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specifictranscription coactivator bindingDNA-binding transcription activator activity, RNA polymerase II-specifichyper-IgE syndrome 6, autosomal dominant, with recurrent infectionsasthmaallergic diseaseallergic rhinitis
✦AI Summary

STAT6 is a transcription factor that serves dual roles in signal transduction and transcriptional activation, primarily responding to interleukin-4 (IL-4) and IL-13 signaling 1. As a key T helper type 2 (Th2)-inducing factor, STAT6 drives pro-allergic immune responses through JAK-STAT pathway activation 2. STAT6 regulates diverse cellular processes including M2 macrophage polarization, efferocytosis, and epithelial barrier function. In stroke pathology, STAT6/Arg1 signaling in microglia and macrophages promotes clearance of dead neurons, reduces inflammation, and improves functional outcomes 3. STAT6 activation also orchestrates tuft cell differentiation and alarmin secretion during helminth infection through O-GlcNAcylation-mediated mechanisms 4. Dysregulation of STAT6 is implicated in multiple pathologies. Germline gain-of-function variants cause early-onset, multi-system allergic disease including severe atopic dermatitis, asthma, and eosinophilic esophagitis 5. STAT6 pathway hyperactivation contributes to keloid fibrosis through IL-13RA2 downregulation and fibroblast proliferation 6. Additionally, STAT6 dysregulation associates with lymphomas and supports immunosuppressive tumor microenvironments through M2 macrophage polarization 1. Selective STAT6 silencing in tumor-associated macrophages via exosome-delivered antisense oligonucleotides demonstrates potent antitumor activity 7, while PROTAC-based STAT6 degraders provide tools for investigating disease mechanisms 8.

Sources cited
1
Germline STAT6 gain-of-function variants cause severe, early-onset multi-system allergic disease
PMID: 38238227
2
Development of selective STAT6 PROTAC degrader (AK-1690) for investigating STAT6 roles in disease
PMID: 39311434
3
STAT6/Arg1 signaling in microglia/macrophages promotes efferocytosis and neuroprotection in stroke
PMID: 31619589
4
STAT6 dysregulation implicated in allergic diseases, lymphomas, and tumor microenvironment
PMID: 33991851
5
IL-4/IL-13 downregulate tight junction proteins through STAT6 phosphorylation in atopic dermatitis
PMID: 37734479
6
IL-13RA2 downregulation activates JAK/STAT6 pathway driving keloid fibrosis
PMID: 36757802
7
STAT6 silencing in tumor-associated macrophages reprograms M2 phenotype and generates antitumor immunity
PMID: 35179953
8
STAT6 O-GlcNAcylation drives tuft cell differentiation and alarmin secretion during helminth infection
PMID: 35385697
Disease Associationsβ“˜21
hyper-IgE syndrome 6, autosomal dominant, with recurrent infectionsOpen Targets
0.73Strong
asthmaOpen Targets
0.51Moderate
allergic diseaseOpen Targets
0.46Moderate
allergic rhinitisOpen Targets
0.45Moderate
respiratory system diseaseOpen Targets
0.44Moderate
diffuse large B-cell lymphomaOpen Targets
0.44Moderate
WheezingOpen Targets
0.44Moderate
childhood onset asthmaOpen Targets
0.43Moderate
adult onset asthmaOpen Targets
0.43Moderate
Eczematoid dermatitisOpen Targets
0.41Moderate
Hodgkins lymphomaOpen Targets
0.39Weak
solitary fibrous tumorOpen Targets
0.38Weak
lymphomaOpen Targets
0.38Weak
hemangiopericytomaOpen Targets
0.38Weak
meningiomaOpen Targets
0.37Weak
chronic rhinosinusitisOpen Targets
0.37Weak
meninges hemangiopericytomaOpen Targets
0.37Weak
non-Hodgkins lymphomaOpen Targets
0.37Weak
Transitional MeningiomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infectionsUniProt
Pathogenic Variants6
NM_003153.5(STAT6):c.1255G>C (p.Asp419His)Likely pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections|Neoplasm
β˜…β˜†β˜†β˜†2023β†’ Residue 419
NM_003153.5(STAT6):c.1256A>G (p.Asp419Gly)Pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
β˜†β˜†β˜†β˜†2024β†’ Residue 419
NM_003153.5(STAT6):c.1255G>T (p.Asp419Tyr)Pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
β˜†β˜†β˜†β˜†2024β†’ Residue 419
NM_003153.5(STAT6):c.1144G>C (p.Glu382Gln)Pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
β˜†β˜†β˜†β˜†2024β†’ Residue 382
NM_003153.5(STAT6):c.1555G>C (p.Asp519His)Pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
β˜†β˜†β˜†β˜†2024β†’ Residue 519
NM_003153.5(STAT6):c.1114G>A (p.Glu372Lys)Pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
β˜†β˜†β˜†β˜†2023β†’ Residue 372
View on ClinVar β†—
Related Genes
IFNGProtein interaction99%TBK1Protein interaction99%IL10Protein interaction98%IL2Protein interaction98%TNFProtein interaction97%IL6Protein interaction97%
Tissue Expression6 tissues
Lung
100%
Ovary
88%
Liver
68%
Heart
25%
Bone Marrow
24%
Brain
6%
Gene Interaction Network
Click a node to explore
STAT6IFNGTBK1IL10IL2TNFIL6
PROTEIN STRUCTURE
Preparing viewer…
PDB1OJ5 Β· 2.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.52Moderately Constrained
pLIβ“˜
0.56Intermediate
Observed/Expected LoF0.40 [0.31–0.52]
RankingsWhere STAT6 stands among ~20K protein-coding genes
  • #719of 20,598
    Most Researched404 Β· top 5%
  • #3,293of 5,498
    Most Pathogenic Variants6
  • #3,155of 17,882
    Most Constrained (LOEUF)0.52 Β· top quartile
Genes detectedSTAT6
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond.
PMID: 38238227
Trends Immunol Β· 2024
1.00
2
Discovery of AK-1690: A Potent and Highly Selective STAT6 PROTAC Degrader.
PMID: 39311434
J Med Chem Β· 2025
0.90
3
STAT6/Arg1 promotes microglia/macrophage efferocytosis and inflammation resolution in stroke mice.
PMID: 31619589
JCI Insight Β· 2019
0.80
4
STAT6: A review of a signaling pathway implicated in various diseases with a special emphasis in its usefulness in pathology.
PMID: 33991851
Pathol Res Pract Β· 2021
0.70
5
STAT5a and STAT6 gene expression levels in multiple sclerosis patients.
PMID: 29126764
Cytokine Β· 2018
0.68