Signal Transducer and Activator of Transcription 3

Alternative Names

STAT3
Acute-Phase Response Factor
APRF

Length

75,245 bases

No. of Exons

No. of isoforms

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

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_003150.3:c.1909G>A	Lebanon	chr17:42322474	Pathogenic	Pathogenic	Hyper-IgE Recurrent Infection Syndrome 1, Autosomal Dominant	NG_007370.1:g.71022G>A ; NM_003150.3:c.1909G>A; NP_644805.1:p.Val637Met	113994139	18308
NM_139276.3:c.1384_1386GTG[1]	Lebanon	chr17:42325038-42325040	Pathogenic	Pathogenic	Hyper-IgE Recurrent Infection Syndrome 1, Autosomal Dominant	NG_007370.1:g.68453_68455GTG[1]; NM_139276.3:c.1384_1386GTG[1]; NP_644805.1:p.Val463del	113994138	18303
NM_139276.3:c.1979T>C	United Arab Emirates	NC_000017.11:g.42322404A>G	Likely Pathogenic, Pathogenic	Likely Pathogenic	Hyper-IgE Recurrent Infection Syndrome 1, Autosomal Dominant	NG_007370.1:g.71092T>C; NM_139276.3:c.1979T>C; NP_644805.1:p.Met660Thr	886039434	265261
NM_139276.3:c.373C>G	United Arab Emirates	NC_000017.11:g.42339409G>C	Likely Benign, Uncertain Significance	Uncertain Significance		NG_007370.1:g.54087C>G; NM_139276.3:c.373C>G; NP_644805.1:p.Gln125Glu	574370336	546794

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External Links

https://ghr.nlm.nih.gov/gene/STAT3 https://www.genecards.org/cgi-bin/carddisp.pl?gene=STAT3

Contributors

Pratibha Nair: 17.02.2022
Pratibha Nair: 22.07.2019

Edit History

Pratibha Nair: 17.02.2022
Pratibha Nair: 22.07.2019

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