STAT3 Chromosome 17
Signal transducer and activator of transcription 3
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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. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000168610
Associated Conditions (17)
Hyper-IgE recurrent infection syndrome 1
autosomal dominant
STAT3 gain of function
STAT3-related disorder
STAT3-related early-onset multisystem autoimmune disease
Inherited Immunodeficiency Diseases
Ovarian serous cystadenocarcinoma
See cases
EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma
Nonpapillary renal cell carcinoma
Malignant lymphoma
large B-cell
diffuse
Neoplasm
EBV-positive nodal T- and NK-cell lymphoma
Inborn genetic diseases
Hyper-IgE syndrome
Key Variants
RS1002835395
Conflicting classifications of pathogenicity
Hyper-IgE recurrent infection syndrome 1, autosomal dominant, STAT3 gain of function
Health Risk
RS1041081083
Conflicting classifications of pathogenicity
Hyper-IgE recurrent infection syndrome 1, autosomal dominant, STAT3 gain of function
Health Risk
RS139701269
Conflicting classifications of pathogenicity
Hyper-IgE recurrent infection syndrome 1, autosomal dominant, STAT3 gain of function
Health Risk
RS1451984094
Conflicting classifications of pathogenicity
STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Health Risk
RS149538586
Conflicting classifications of pathogenicity
Hyper-IgE recurrent infection syndrome 1, autosomal dominant, Hyper-IgE recurrent infection syndrome 1
Health Risk
RS151033214
Conflicting classifications of pathogenicity
Hyper-IgE recurrent infection syndrome 1, autosomal dominant, STAT3 gain of function
Health Risk
RS1555566820
Conflicting classifications of pathogenicity
STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Health Risk
RS1555568535
Conflicting classifications of pathogenicity
STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Health Risk
RS1567713850
Conflicting classifications of pathogenicity
STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Health Risk
RS1598381169
Conflicting classifications of pathogenicity
Inherited Immunodeficiency Diseases, STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
Health Risk
RS1598406623
Conflicting classifications of pathogenicity
Hyper-IgE recurrent infection syndrome 1, autosomal dominant, STAT3 gain of function
Health Risk
RS1598415635
Conflicting classifications of pathogenicity
Inherited Immunodeficiency Diseases, STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
Health Risk
All Variants (119)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587777648 | Health Risk | Pathogenic | STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS587777649 | Health Risk | Pathogenic | STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS869312887 | Health Risk | Pathogenic | STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS869312890 | Health Risk | Pathogenic | STAT3-related early-onset multisystem autoimmune disease, STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1 |
| RS869312891 | Health Risk | Pathogenic | STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS869312892 | Health Risk | Pathogenic | STAT3-related early-onset multisystem autoimmune disease, Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS869312893 | Health Risk | Pathogenic | STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS869312894 | Health Risk | Pathogenic | STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS1064794957 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inherited Immunodeficiency Diseases, Hyper-IgE recurrent infection syndrome 1 |
| RS1131691476 | Health Risk | Pathogenic/Likely pathogenic | STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS1555563717 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgE recurrent infection syndrome 1, autosomal dominant, STAT3 gain of function |
| RS1555563854 | Health Risk | Pathogenic/Likely pathogenic | STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS193922716 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgE recurrent infection syndrome 1, autosomal dominant, STAT3 gain of function |
| RS193922717 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgE recurrent infection syndrome 1, autosomal dominant, STAT3-related early-onset multisystem autoimmune disease |
| RS193922721 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgE recurrent infection syndrome 1, autosomal dominant, STAT3 gain of function |
| RS2144827923 | Health Risk | Pathogenic/Likely pathogenic | STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS869312888 | Health Risk | Pathogenic/Likely pathogenic | STAT3-related early-onset multisystem autoimmune disease, STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1 |
| RS869312889 | Health Risk | Pathogenic/Likely pathogenic | STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS886039434 | Health Risk | Pathogenic/Likely pathogenic | Hyper-IgE syndrome, STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1 |