NFAT5 Chromosome 16
Nuclear factor of activated T cells 5
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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
RS148886916
Conflicting classifications of pathogenicity
Immunodeficiency, Familial cancer of breast, Immunodeficiency
Health Risk
RS56368098
Conflicting classifications of pathogenicity
Immunodeficiency, NFAT5-related disorder, Immunodeficiency
Health Risk
RS750787383
Conflicting classifications of pathogenicity
Immunodeficiency, Immunodeficiency
Health Risk
RS751417445
Conflicting classifications of pathogenicity
Immunodeficiency, Immunodeficiency
Health Risk
RS779138756
Conflicting classifications of pathogenicity
Immunodeficiency, Immunodeficiency
Health Risk
RS779806445
Conflicting classifications of pathogenicity
Immunodeficiency, Immunodeficiency
Health Risk
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 |