STAT6 Chromosome 12
Signal transducer and activator of transcription 6
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What This Gene Does
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.[provided by RefSeq, May 2010]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000166888
Associated Conditions (5)
Inborn genetic diseases
Hyper-IgE syndrome 6
autosomal dominant
with recurrent infections
Neoplasm
Key Variants
RS147655222
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS11172102
Likely pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
Health Risk
RS2548019791
Pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
Health Risk
RS2548025666
Pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
Health Risk
RS2548028819
Pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
Health Risk
RS2548028861
Pathogenic
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147655222 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS11172102 | Health Risk | Likely pathogenic | Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections |
| RS2548019791 | Health Risk | Pathogenic | Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections |
| RS2548025666 | Health Risk | Pathogenic | Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections |
| RS2548028819 | Health Risk | Pathogenic | Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections |
| RS2548028861 | Health Risk | Pathogenic | Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections |