NFAT5 nuclear factor of activated T cells 5
Gene ID: 10725, updated on 28-Oct-2024Gene type: protein coding
Also known as: NFATZ; OREBP; NF-AT5; NFATL1; TONEBP
- See all available tests in GTR for this gene
- Go to complete Gene record for NFAT5
- Go to Variation Viewer for NFAT5 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 16q22.1
- Sequence:
- Chromosome: 16; NC_000016.10 (69565966..69704654)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NFAT5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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