NFATC2IP
Description
The NFATC2IP (nuclear factor of activated T cells 2 interacting protein) is a protein-coding gene located on chromosome 16.
Nuclear factor of activated T cells 2 interacting protein is a protein that in humans is encoded by the NFATC2IP gene.
In T-helper 2 (Th2) cells, NFATC2IP regulates the level of NFAT-driven transcription of specific cytokine genes, including IL3, IL4, IL5, and IL13, but not IL2. It recruits PRMT1 to the IL4 promoter, leading to increased histone H4 'Arg-3'-methylation and facilitating subsequent histone acetylation at the IL4 locus, ultimately promoting robust cytokine expression. NFATC2IP also downregulates the formation of poly-SUMO chains by UBE2I/UBC9.
NFATC2IP is also known as ESC2, NIP45, RAD60.
Associated Diseases
- isolated agammaglobulinemia
- severe combined immunodeficiency due to CTPS1 deficiency
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- severe combined immunodeficiency due to CARD11 deficiency
- immunodeficiency 18
- neutropenia, severe congenital, 1, autosomal dominant
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- agammaglobulinemia 7, autosomal recessive
- combined immunodeficiency due to moesin deficiency
- allergic asthma
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- combined immunodeficiency with skin granulomas
- hyper-IgM syndrome type 3
- agammaglobulinemia 10, autosomal dominant
- severe combined immunodeficiency due to LAT deficiency
- immunodeficiency 67
