NFATC1

Chr 18

nuclear factor of activated T cells 1

Also known as: NF-ATC, NF-ATc1.2, NFAT2, NFATc

NCBI Gene: 4772 ENSG00000131196 UniProt: O95644 OMIM: 600489

NFATC1 encodes a transcription factor that regulates cytokine gene expression in T cells and controls gene expression in embryonic cardiac development, osteoclast differentiation, and lymphocyte function. Mutations cause congenital heart defects and immunodeficiency with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.447), indicating that such mutations are likely to be pathogenic.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

427

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.45

LOEUF

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Mechanism

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