NFATC2 Chromosome 20
Nuclear factor of activated T cells 2
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What This Gene Does
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]
Gene Info
Gene Group
"Nuclear factors of activated T-cells|MicroRNA protein coding host genes|IPT domain containing"
Locus Type
gene with protein product
Location
20q13.2
Ensembl
ENSG00000101096
Associated Conditions (4)
Dilated cardiomyopathy 1A
Joint contractures
osteochondromas
and B-cell lymphoma
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377609235 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A |
| RS2515685116 | Health Risk | Pathogenic | Joint contractures, osteochondromas, and B-cell lymphoma |