Variants
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STAT4 Gene

signal transducer and activator of transcription 4

ALIAS SYMBOLS

  • None

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Description

The STAT4 gene provides instructions for a protein that acts as a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. The STAT4 protein is turned on (activated) by immune system proteins called cytokines, which are part of the inflammatory response to fight infection. When activated, the STAT4 protein increases the activity of genes that help immune cells called T-cells mature into specialized T-cells. These specialized T-cells, called Th1 cells, produce specific cytokines and stimulate other immune cells to get rid of foreign invaders (pathogens) in the cell.

CHROMOSOME

2


LOCATION

q32.2-q32.3


LOCUS TYPE

gene with protein product

VARIANTS

130

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Phenotypes

External Links

  • HGNC

    HGNC:11365

  • NCBI

    6775

  • OMIM

    600558

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