NFAT5 Chromosome 16

Nuclear factor of activated T cells 5
6 variants 6 Health Risk

Upload your DNA to see your personal genotypes for variants in NFAT5.

What This Gene Does
The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Nuclear factors of activated T-cells|IPT domain containing"
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000102908
Associated Conditions (3)
Immunodeficiency
Familial cancer of breast
NFAT5-related disorder
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS148886916 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, Familial cancer of breast, Immunodeficiency
RS56368098 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, NFAT5-related disorder, Immunodeficiency
RS750787383 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, Immunodeficiency
RS751417445 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, Immunodeficiency
RS779138756 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, Immunodeficiency
RS779806445 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, Immunodeficiency
Sign Up to Analyze Your DNA Log In