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STAT6

Chr 12q13.3

signal transducer and activator of transcription 6

Aliases:
D12S1644, IL-4-STAT
MANE:
ENST00000300134.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • COVID-19 research

    Unknown

Disease associations (Open Targets)

  • hyper-IgE syndrome 6, autosomal dominant, with recurrent infections

    0.73
  • asthma

    0.47
  • diffuse large B-cell lymphoma

    0.44
  • allergic disease

    0.43
  • respiratory system disorder

    0.41
  • allergic rhinitis

    0.40
  • Wheezing

    0.40
  • adult onset asthma

    0.39
  • lymphoma

    0.39
  • solitary fibrous tumor

    0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Signal transducer and activator of transcription 6

Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.