STAT2

Chr 12AR

signal transducer and activator of transcription 2

Also known as: IMD44, ISGF-3, P113, PTORCH3, STAT113

NCBI Gene: 6773 ENSG00000170581 UniProt: P52630 OMIM: 600556

STAT2 encodes a signal transducer and activator of transcription that mediates type I interferon signaling by forming the ISGF3 transcription factor complex, which activates antiviral gene expression and drives cellular antiviral responses. Mutations cause Immunodeficiency 44, an autosomal recessive primary immunodeficiency characterized by severe viral infections. This gene is critical for innate immunity against viral pathogens, particularly affecting the interferon response pathway.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the STAT protein family. 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. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency 44MIM #616636

Pseudo-TORCH syndrome 3MIM #618886

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

198

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· G2P