NFATC2IP

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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