Gene: STAT6

Alternate names for this Gene: D12S1644|IL-4-STAT|STAT6B|STAT6C

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: signal transducer and activator of transcription 6

Type of Gene: protein-coding

rs3122929 in STAT6 gene and Adult onset asthma PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs3024971 in STAT6 gene and Allergic Reaction PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

rs167769 in STAT6 gene and Asthma PMID 29273806 2018 Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

PMID 30787307 2019 Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.

PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 30552067 2019 Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.

rs61937568 in STAT6 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs3122929 in STAT6 gene and Childhood asthma PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs3024971 in STAT6 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3024971 in STAT6 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs167769 in STAT6 gene and Eosinophilic esophagitis PMID 25407941 2014 GWAS identifies four novel eosinophilic esophagitis loci.

rs10783813 in STAT6 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs3122929 in STAT6 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.