Signal Transducer and Activator of Transcription 3

Alternative Names

  • STAT3
  • Acute-Phase Response Factor
  • APRF
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OMIM Number

102582

NCBI Gene ID

6774

Uniprot ID

P40763

Length

75,245 bases

No. of Exons

24

No. of isoforms

3

Protein Name

Signal transducer and activator of transcription 3

Molecular Mass

88068 Da

Amino Acid Count

770

Genomic Location

chr17:42,313,324-42,388,568

Gene Map Locus
17q21.2

Description

The STAT3 gene codes for a transcription factor that regulates several genes involved in the maturation of immune cells, especially the lymphocytes. Mutations in this gene have been implicated in immune system disorders, such as Hyper-IgE recurrent infection syndrome and  Autoimmune disease, multisystem, infantile-onset, 1.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003150.3:c.1909G>ALebanonchr17:42322474PathogenicPathogenicHyper-IgE Recurrent Infection Syndrome 1, Autosomal DominantNG_007370.1:g.71022G>A ; NM_003150.3:c.1909G>A; NP_644805.1:p.Val637Met11399413918308
NM_139276.3:c.1384_1386GTG[1]Lebanonchr17:42325038-42325040PathogenicPathogenicHyper-IgE Recurrent Infection Syndrome 1, Autosomal DominantNG_007370.1:g.68453_68455GTG[1]; NM_139276.3:c.1384_1386GTG[1]; NP_644805.1:p.Val463del11399413818303
NM_139276.3:c.1979T>CUnited Arab EmiratesNC_000017.11:g.42322404A>GLikely Pathogenic, PathogenicLikely PathogenicHyper-IgE Recurrent Infection Syndrome 1, Autosomal DominantNG_007370.1:g.71092T>C; NM_139276.3:c.1979T>C; NP_644805.1:p.Met660Thr886039434265261
NM_139276.3:c.373C>GUnited Arab EmiratesNC_000017.11:g.42339409G>CLikely Benign, Uncertain SignificanceUncertain SignificanceNG_007370.1:g.54087C>G; NM_139276.3:c.373C>G; NP_644805.1:p.Gln125Glu574370336546794
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