NFATC2

Chr 20AR

nuclear factor of activated T cells 2

Also known as: JCOSL, NFAT1, NFATP

NCBI Gene: 4773 ENSG00000101096 UniProt: Q13469 OMIM: 600490

The NFATC2 protein is a transcription factor that translocates to the nucleus upon T cell receptor stimulation to induce cytokine gene expression and plays a role in regulating chondrogenesis. Biallelic mutations cause joint contracture, osteochondromas, and B-cell lymphoma with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.19), indicating that such variants are likely pathogenic.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Joint contracture, osteochondromas, and B-cell lymphomaMIM #620232

UniProtJoint contractures, osteochondromas, and B-cell lymphoma

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ADDisputedevidence questions this relationship

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted