STAT3 (Entrez ID: 6774)

Entrez Gene ID	6774
Official Gene Symbol	STAT3 (GeneCards)
Full name	signal transducer and activator of transcription 3
Location	17q21.2
Other ids	Vega : OTTHUMG00000150645 MIM : 102582 HGNC : HGNC:11364 Ensembl : ENSG00000168610
Other names	APRF, HIES, ADMIO, ADMIO1
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. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]

Variants

Found 9 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
53	6774	STAT3	17	40478190	40478190	Autosomal dominant Hyper IgE syndrome	Taqman RTPCR
54	6774	STAT3	17	40478190	40478190	Autosomal dominant Hyper IgE syndrome	Taqman RTPCR
55	6774	STAT3	17	40478190	40478190	Autosomal dominant Hyper IgE syndrome	Taqman RTPCR
56	6774	STAT3	17	40478190	40478190	Autosomal dominant Hyper IgE syndrome	Taqman RTPCR
57	6774	STAT3	17	40478190	40478190	Autosomal dominant Hyper IgE syndrome	Taqman RTPCR
58	6774	STAT3	17	40478190	40478190	Autosomal dominant Hyper IgE syndrome	Taqman RTPCR
59	6774	STAT3	17	40478190	40478190	Autosomal dominant Hyper IgE syndrome	Taqman RTPCR
60	6774	STAT3	17	40481660	40481660	Autosomal dominant Hyper IgE syndrome	Taqman RTPCR
1545	6774	STAT3	17	40474420	40474420	Multiple Sclerosis	Taqman RTPCR sequencing