STAT2 Chromosome 12
Signal transducer and activator of transcription 2
Upload your DNA to see your personal genotypes for variants in STAT2.
What This Gene Does
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]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000170581
Associated Conditions (4)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Inborn genetic diseases
Pseudo-TORCH syndrome 3
Susceptibility to severe COVID-19
Key Variants
RS145152331
Conflicting classifications of pathogenicity
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
RS146096134
Conflicting classifications of pathogenicity
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
RS1879360038
Conflicting classifications of pathogenicity
Pseudo-TORCH syndrome 3, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Pseudo-TORCH syndrome 3
Health Risk
RS201551671
Conflicting classifications of pathogenicity
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
RS540878199
Conflicting classifications of pathogenicity
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
RS750338004
Conflicting classifications of pathogenicity
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
RS774277532
Conflicting classifications of pathogenicity
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
RS1028079499
Likely pathogenic
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
RS2136052278
Likely pathogenic
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
RS2136091638
Likely pathogenic
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
RS146115536
Likely risk allele
Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
Health Risk
RS1216776022
Pathogenic
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145152331 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS146096134 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1879360038 | Health Risk | Conflicting classifications of pathogenicity | Pseudo-TORCH syndrome 3, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Pseudo-TORCH syndrome 3 |
| RS201551671 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS540878199 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS750338004 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS774277532 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1028079499 | Health Risk | Likely pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2136052278 | Health Risk | Likely pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2136091638 | Health Risk | Likely pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS146115536 | Health Risk | Likely risk allele | Susceptibility to severe COVID-19, Susceptibility to severe COVID-19 |
| RS1216776022 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1258502384 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1391401672 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1458224681 | Health Risk | Pathogenic | Pseudo-TORCH syndrome 3, Pseudo-TORCH syndrome 3 |
| RS1565648608 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1592475699 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1877554115 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1877915798 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS1878353719 | Health Risk | Pathogenic | — |
| RS1878411313 | Health Risk | Pathogenic | — |
| RS1878457865 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2136044173 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2136052256 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2136053029 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2136083409 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2547239801 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2547239961 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2547248874 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2547253187 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS2547264815 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS281874770 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS571666221 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS753806117 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS763294380 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS779636893 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| RS781522558 | Health Risk | Pathogenic | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |