NFAT5

Chr 16q22.1

nuclear factor of activated T cells 5

Aliases:: TONEBP, KIAA0827, NFATL1, OREBP, NFATZ
MANE:: ENST00000349945.7

OMIM: 604708 ↗NCBI: 10725 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NFAT5 · O94916

v62025-08-01

Predicted Aligned Error matrix for NFAT5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

44.6/ 100

Very low

1,531 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)2%
Low(50–70)1%
Very low(< 50)81%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

type 2 diabetes mellitus
0.42
diabetes mellitus
0.41
Abnormality of the skeletal system
0.35
hyperuricemia
0.34
peripheral vascular disease
0.33
chronic kidney disease
0.32
smoking initiation
0.31
gout
0.31
hypothyroidism
0.30
coronary artery disorder
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nuclear factor of activated T-cells 5

Transcription factor involved, among others, in the transcriptional regulation of osmoprotective and inflammatory genes (PubMed:10377394, PubMed:11485737, PubMed:41652173). Binds the DNA consensus sequence 5'-[ACT][AG]TGGAAA[CAT]A[TA][ATC][CA][ATG][GT][GAC][CG][CT]-3' (PubMed:10377394, PubMed:11485737). Mediates the transcriptional response to hypertonicity (PubMed:10051678). Positively regulates the transcription of LCN2 and S100A4 genes; optimal transactivation of these genes requires the presence of DDX5/DDX17 (PubMed:22266867). Also involved in the DNA damage response by preventing formation of R-loops; R-loops are composed of a DNA:RNA hybrid and the associated non-template single-stranded DNA (PubMed:34049076)