STAT1
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_007315.2,NM_139266.1 Gene Symbol STAT1
Protein Name Signal transducer and activator of transcription 1, 91kda
Alternate Names DKFZp686B04100, ISGF-3, STAT91
Gene Locus 2q32.2

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
70 02777 600555 6772 NetPath_M6772 6772 1BF5
1YVL
11362 ENSG00000115415 P42224 STAT1

Disease name Characteristic / Associated features Category inheritance type
STAT1 deficiency Susceptibility to bacterial and viral infections; susceptibility to mycobacterial infection; asthma; atopy; glomerulonephritis; vasculitis; rheumatoid factor positive; Susceptibility to Salmonella infections (PMID: 22566844) Congenital defects of Phagocyte number, function or both Autosomal recessive; Autosomal dominant
STAT1 deficiency Disseminated Mycobacterium kansasii infection; viral gastroenteritis; viral laryngitis; pneumonia; disseminated cutaneous herpes simplex infection; interstitial pneumonia; acute respiratory distress; sepsis; encephalitis Congenital defects of Phagocyte number, function or both Autosomal recessive / Autosomal dominant
STAT1 deficiency Chronic candidiasis of mucosa, skin and nails; dermatophytosis; candidiasis of the feet; Chronic mucocutaneous candidiasis; autoimmune hepatitis; eczema; chest infections; autoimmune hemolytic anemia; phospholipid antibody positive; bronchiectasis; pneumocystosis; pulmonary embolism; hypothyroidism; presence of thyroid antibodies; iron deficiency anemia; enamel dysplasia; oral cancer; blepharitis; keratopathy; esophageal cancer; oral squamous cell carcinoma Congenital defects of Phagocyte number, function or both Autosomal dominant