STAT6

Chr 12AD

signal transducer and activator of transcription 6

Also known as: D12S1644, HIES6, IL-4-STAT, STAT6B, STAT6C

NCBI Gene: 6778 ENSG00000166888 UniProt: P42226 OMIM: 601512

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]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hyper-IgE syndrome 6, autosomal dominant, with recurrent infectionsMIM #620532

Clinical highlights

Gene-disease validity (ClinGen)

hyper-IgE syndrome 6, autosomal dominant, with recurrent infections · ADStrongappropriate for clinical testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

653

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

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Mechanism

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