Disease-gene associations mined from literature

Literature associating NFATC2IP and Friedreich ataxia 2

NFATC2IP [ENSP00000324792]

Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein; In T-helper 2 (Th2) cells, regulates the magnitude of NFAT-driven transcription of a specific subset of cytokine genes, including IL3, IL4, IL5 and IL13, but not IL2. Recruits PRMT1 to the IL4 promoter; this leads to enhancement of histone H4 'Arg-3'- methylation and facilitates subsequent histone acetylation at the IL4 locus, thus promotes robust cytokine expression (By similarity). Down-regulates formation of poly-SUMO chains by UBE2I/UBC9 (By similarity).

Synonyms:  NFATC2IP,  H3BSZ7,  Q8NCF5,  H3BSZ7p,  hH3BSZ7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM