NFATC2IP
Chr 16nuclear factor of activated T cells 2 interacting protein
Also known as: ESC2, NIP45, RAD60
This protein regulates NFAT-driven transcription of specific cytokine genes including IL4, IL5, and IL13 in T-helper 2 cells by recruiting PRMT1 to promote histone methylation and acetylation. Mutations cause autosomal recessive primary immunodeficiency with defective T-helper cell cytokine production, resulting in recurrent infections and immune dysregulation typically presenting in early childhood. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NFATC2IP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools