STAT6-gene

The protein of the same name (STAT6) encoded by this gene (gene location: 12q13.3) is a member of the STAT family of transcription factors.

The STAT6 gene spans over 19 kb and consists of 23 exons. In response to cytokines and growth factors, members of the STAT family are phosphorylated by the receptor-associated kinases and then form homodimers or heterodimers that translocate to the nucleus where they act as transcriptional activators. STAT6 plays a central role in exerting IL4-mediated biological responses.

Diseases associated with STAT6 include hemangiopericytomas and primary mediastinal B-cell lymphoma.

Solitary fibrous tumor has been shown to have a disease-defining NAB2-STAT6 gene fusion resulting from an intrachromosomal inversion involving 12q13.3. Derived immunohistochemical detection of nuclear STAT6 expression has high diagnostic value in distinguishing SFTs from other connective tissue tumors (Huang SC et al. 2019).

In an English collective, a STAT6 3'UTR polymorphism has been shown to be associated with susceptibility and severity in patients with nut allergy in our population (Amoli MM et al. 2002).

Related signaling pathways include ERK signaling and IL-9 signaling pathways. An important paralog of this gene is STAT5A.

1. Amoli MM et al. (2002) Polymorphism in the STAT6 gene encodes risk for nut allergy. Genes Immun 3:220-224.
2. Huang SC et al (2019) Solitary fibrous tumor: An evolving and unifying entity with unsettled issues. Histol Histopathol 34:313-334.

3. Robinson DR et al (2013) Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. Nat Genet 45:180-185.

4. Xian RR et al (2020) CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma. Blood Cancer J 10(6):69.

5. Yildiz M et al (2015) Activating STAT6 mutations in follicular lymphoma. Blood 125:668-679.