Gene: STAT1

Alternate names for this Gene: CANDF7|IMD31A|IMD31B|IMD31C|ISGF-3|STAT91

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q32.2

Description of this Gene: signal transducer and activator of transcription 1

Type of Gene: protein-coding

rs2280235 in STAT1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs886043118 in STAT1 gene and Blood Coagulation Disorders PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

rs7597768 in STAT1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs1085307649 in STAT1 gene and CANDIDIASIS, FAMILIAL, 7 PMID 27114460 2016 Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

PMID 25367169 2015 Orf Infection in a Patient with Stat1 Gain-of-Function.

PMID 26514428 2015 A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.

PMID 25288569 2014 Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

PMID 23709754 2013 New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

PMID 23541320 2013 Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

PMID 26242301 2016 Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

PMID 26604104 2016 The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

PMID 22195034 2011 STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

PMID 22847544 2012 Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.

PMID 21714643 2011 STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

PMID 21727188 2011 Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

PMID 28258222 2017 Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.

PMID 26255980 2015 Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

PMID 24343863 2014 Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

PMID 26494717 2015 A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

PMID 26743090 2016 Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.

PMID 28597685 2017 A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.

PMID 22730530 2012 Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

rs387906759 in STAT1 gene and Candidiasis, Chronic Mucocutaneous PMID 26494717 2015 A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

PMID 21714643 2011 STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

PMID 23541320 2013 Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

PMID 26255980 2015 Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

PMID 24343863 2014 Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

PMID 26604104 2016 The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

PMID 21727188 2011 Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

PMID 28427548 2017 Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis.

PMID 28161409 2017 Gain-of-function STAT1 mutations are associated with intracranial aneurysms.

rs886043118 in STAT1 gene and Cholestasis PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs7565237 in STAT1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1085307649 in STAT1 gene and IMMUNODEFICIENCY 31A PMID 27114460 2016 Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

PMID 16934001 2006 Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

PMID 22573496 2012 Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

PMID 11452125 2001 Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.

PMID 28258222 2017 Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.

PMID 26604104 2016 The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

PMID 21714643 2011 STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

PMID 25367169 2015 Orf Infection in a Patient with Stat1 Gain-of-Function.

PMID 26242301 2016 Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

PMID 21727188 2011 Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

PMID 23541320 2013 Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

PMID 22195034 2011 STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

PMID 22847544 2012 Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.

PMID 24343863 2014 Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

PMID 23709754 2013 New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

PMID 26255980 2015 Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

PMID 26494717 2015 A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

PMID 26743090 2016 Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.

PMID 22730530 2012 Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

PMID 28597685 2017 A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.

rs1085307649 in STAT1 gene and IMMUNODEFICIENCY 31B PMID 27114460 2016 Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

PMID 20841510 2010 A novel form of human STAT1 deficiency impairing early but not late responses to interferons.

PMID 23709754 2013 New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

PMID 12590259 2003 Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.

PMID 25367169 2015 Orf Infection in a Patient with Stat1 Gain-of-Function.

PMID 22195034 2011 STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

PMID 26604104 2016 The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

PMID 28258222 2017 Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.

PMID 23541320 2013 Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

PMID 26242301 2016 Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

PMID 21714643 2011 STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

PMID 21727188 2011 Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

PMID 22847544 2012 Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.

PMID 26494717 2015 A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

PMID 26255980 2015 Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

PMID 24343863 2014 Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

PMID 28597685 2017 A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.

PMID 22730530 2012 Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

PMID 26743090 2016 Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.

PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs45539732 in STAT1 gene and Juvenile pauciarticular chronic arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs45539732 in STAT1 gene and Juvenile-Onset Still Disease PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs886043118 in STAT1 gene and Lymphadenopathy PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs45539732 in STAT1 gene and Oligoarticular Juvenile Idiopathic Arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs45539732 in STAT1 gene and Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs41382444 in STAT1 gene and Primary biliary cirrhosis PMID 22936693 2012 Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

rs45539732 in STAT1 gene and Rheumatoid Arthritis, Systemic Juvenile PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs45539732 in STAT1 gene and Systemic onset juvenile chronic arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs886043118 in STAT1 gene and Thrombocytopenia PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.