STAT3
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_003150.3,NM_139276.2,NM_213662.1 Gene Symbol STAT3
Protein Name Signal transducer and activator of transcription 3 (acute-phase response factor)
Alternate Names APRF, FLJ20882, MGC16063
Gene Locus 17q21.31

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
167 00026 102582 6774 NetPath_M6774 6774 -
11364 ENSG00000168610 P40763 STAT3

Disease name Characteristic / Associated features Category inheritance type
STAT3 deficiency Abnormality of the teeth; recurrent Staphylococcus aureus infections; recurrent skin abscesses; lung Abscess; air cyst; bone abnormalities; broad nasal tip; chronic eczema; broad nasal bridge; delayed loss of deciduous teeth; Increased IgE level; Joint hypermobility; hyperkeratotic fingernails due to candida infection; multiple fractures; Candidiasis of nails; osteoporosis; pneumonia, Staphylococcus aureus; scoliosis; thickened skin; Coarse facies; asymmetric face; frontal bossing; mild prognathism; hypertelorism; thickening of the soft tissue of the nose; high-arched palate; reduced resorption of primary tooth roots; recurrent sinopulmonary infections; pneumatocele formation; decreased bone mineral density; craniosynostosis (rare); vertebral body abnormalities; abscesses are cold, lacking erythema, heat, and swelling; recurrent fungal infections Other Well-defined Immunodeficiency Syndromes Autosomal dominant