NFATC1 Chromosome 18
Nuclear factor of activated T cells 1
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What This Gene Does
The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
"Nuclear factors of activated T-cells|IPT domain containing"
Locus Type
gene with protein product
Location
18q23
Ensembl
ENSG00000131196
Key Variants
RS199958849
Conflicting classifications of pathogenicity
Health Risk
RS376070934
Conflicting classifications of pathogenicity
Health Risk
RS376173313
Conflicting classifications of pathogenicity
Health Risk
RS753211496
Conflicting classifications of pathogenicity
Health Risk
RS754370015
Conflicting classifications of pathogenicity
Health Risk
RS779877080
Conflicting classifications of pathogenicity
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199958849 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376070934 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376173313 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753211496 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754370015 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779877080 | Health Risk | Conflicting classifications of pathogenicity | — |