Disease-gene associations mined from literature

Literature associating NFAT5 and spinocerebellar ataxia type 4

NFAT5 [ENSP00000457593]

Nuclear factor of activated T-cells 5, tonicity-responsive; Transcription factor involved, among others, in the transcriptional regulation of osmoprotective and inflammatory genes. Mediates the transcriptional response to hypertonicity. Positively regulates the transcription of LCN2 and S100A4 genes; optimal transactivation of these genes requires the presence of DDX5/DDX17. Binds the DNA consensus sequence 5'- [ACT][AG]TGGAAA[CAT]A[TA][ATC][CA][ATG][GT][GAC][CG][CT]-3'; Nuclear factors of activated T-cells

Synonyms:  NFAT5,  NFAT5p,  hNFAT5,  A0A024R734,  F6X8W2 ...

Linkouts:  STRING  Pharos  UniProt