Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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STAT4 gene

The protein encoded by STAT4 gene, signal transducer and activator of transcription 4, is essential for interleukin-12 signal transduction. Genetic variants are responsible for lupus erythematosus susceptibility type 11.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Susceptibility to systemic lupus erythematosus 11
STAT4

References:

1.

Diefenbach A et al. (1999) Requirement for type 2 NO synthase for IL-12 signaling in innate immunity.

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2.

Yamamoto K et al. (1997) cDNA cloning, expression and chromosome mapping of the human STAT4 gene: both STAT4 and STAT1 genes are mapped to 2q32.2-->q32.3.

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3.

Frucht DM et al. (2000) Stat4 is expressed in activated peripheral blood monocytes, dendritic cells, and macrophages at sites of Th1-mediated inflammation.

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4.

Lovato P et al. (2003) Constitutive STAT3 activation in intestinal T cells from patients with Crohn's disease.

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5.

Ota N et al. (2004) N-domain-dependent nonphosphorylated STAT4 dimers required for cytokine-driven activation.

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6.

Yap WH et al. (2005) STAT4 is a target of the hematopoietic zinc-finger transcription factor Ikaros in T cells.

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7.

Shin HJ et al. (2005) STAT4 expression in human T cells is regulated by DNA methylation but not by promoter polymorphism.

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8.

Remmers EF et al. (2007) STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus.

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9.

Pang YH et al. (2007) Increased expression and activation of IL-12-induced Stat4 signaling in the mucosa of ulcerative colitis patients.

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10.

Kariuki SN et al. (2009) Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.

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11.

Han JW et al. (2009) Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.

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12.

Gateva V et al. (2009) A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

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Update: Nov. 3, 2022
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