STAT1 Chromosome 2

Signal transducer and activator of transcription 1
101 variants 101 Health Risk

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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. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
2q32.2
Ensembl
ENSG00000115415
Associated Conditions (12)
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Immunodeficiency 31B
Inborn genetic diseases
STAT1-related disorder
STAT1-Related Immunodeficiency
Inherited Immunodeficiency Diseases
Acute myeloid leukemia
Malignant tumor of esophagus
Lung cancer
Chronic mucocutaneous candidiasis
See cases
Key Variants
RS1167103580
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
RS140351189
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
RS140787216
Conflicting classifications of pathogenicity
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Health Risk
RS146273341
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
RS148148052
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
RS148775168
Conflicting classifications of pathogenicity
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Health Risk
RS1553494436
Conflicting classifications of pathogenicity
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Health Risk
RS1574648919
Conflicting classifications of pathogenicity
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Health Risk
RS1574657750
Conflicting classifications of pathogenicity
Inherited Immunodeficiency Diseases, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Health Risk
RS1693996119
Conflicting classifications of pathogenicity
Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Health Risk
RS185216067
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
RS190269533
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
Health Risk
All Variants (101)
RSID Category Clinical Significance Conditions
RS587776713 Health Risk Likely pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS755837357 Health Risk Likely pathogenic —
RS778254943 Health Risk Likely pathogenic —
RS796065052 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS137852677 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS137852678 Health Risk Pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS137852679 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS137852680 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS1382612689 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS1553495184 Health Risk Pathogenic —
RS1553496850 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1559011859 Health Risk Pathogenic Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1559019204 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1574648928 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1693751220 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2124996723 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2125000306 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2125029430 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2125062092 Health Risk Pathogenic Chronic mucocutaneous candidiasis, Chronic mucocutaneous candidiasis
RS2125062900 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2125075036 Health Risk Pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS2470418264 Health Risk Pathogenic —
RS2470432266 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2470453245 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2470465465 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2470466154 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS2470484324 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470533091 Health Risk Pathogenic Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS2470565369 Health Risk Pathogenic Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470570568 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS387906759 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS387906760 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS387906761 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS387906762 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS387906764 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS387906765 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS387906766 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS387906768 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS587776714 Health Risk Pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS587776870 Health Risk Pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS587777628 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS587777629 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS587777630 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS587777704 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS587777705 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS763759889 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS768767763 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS863223398 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS886043118 Health Risk Pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS888084670 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
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