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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NFATC2IP
nuclear factor of activated T cells 2 interacting protein
Chromosome 16 · 16p11.2
NCBI Gene: 84901Ensembl: ENSG00000176953.14HGNC: HGNC:25906UniProt: Q8NCF5
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIprotein sumoylationnucleuscytoplasmactinic keratosisrisk-taking behaviourisolated agammaglobulinemiaatrial fibrillation
✦AI Summary

NFATC2IP is a multifunctional protein with distinct roles in immune regulation and genome integrity. In T-helper 2 cells, NFATC2IP regulates NFAT-driven transcription of specific cytokine genes (IL3, IL4, IL5, IL13) by recruiting PRMT1 to enhance histone modifications at the IL4 promoter, facilitating robust cytokine expression 1. The protein contains tandem SUMO-like domains and serves as a key mediator of SUMO-dependent genomic stability by interacting with the SMC5/6 complex and UBC9; cells lacking NFATC2IP show hypersensitivity to SUMO E1 inhibition and accumulate mitotic chromosome 16 2. Beyond immunity, NFATC2IP modulates metabolic traits—DNA methylation at the NFATC2IP locus influences weight loss responses to dietary fat intake, with differential effects depending on fat consumption levels 3. In breast cancer, NFATC2IP phosphorylation by TRPV6-activated pathways enhances NFATC2 activity to promote metastasis via ADAMTS6 upregulation 4. Genetic variants at this locus show clinical associations with cardiovascular outcomes and cancer progression 56. Thus, NFATC2IP functions as a critical nexus integrating immune signaling, epigenetic regulation, and genome maintenance.

Sources cited
1
NFATC2IP exhibits dynamic APA (alternative polyadenylation) during conversion of naïve T cells to memory T cells
PMID: 38982223
2
NFATC2IP is a mediator of SUMO-dependent genome integrity through interaction with SMC5/6 complex and UBC9, with SUMO-like domains
PMID: 38503515
3
TRPV6 activates NFATC2 by phosphorylating NFATC2IP at Ser204, promoting breast cancer metastasis via ADAMTS6 upregulation
PMID: 34265397
4
DNA methylation at NFATC2IP locus influences weight-loss response to dietary fat intake with causal mediation effects
PMID: 29693310
5
NFATC2IP is downregulated in leucocytes during acute phase of ST-elevation myocardial infarction and highly expressed in atherosclerotic plaques
PMID: 31589004
6
NFATC2IP expression is elevated in HR-positive/HER2-low breast tumors and associated with improved relapse-free survival
PMID: 37279952
7
Blood DNA methylation at NFATC2IP is related to weight loss and changes in glucose, lipids, and blood pressure in dietary interventions
PMID: 37630855
8
NFATC2IP is located on chromosome 16 and can be disrupted by gross deletions affecting CD19 locus
PMID: 17882224
Disease Associationsⓘ20
actinic keratosisOpen Targets
0.06Suggestive
risk-taking behaviourOpen Targets
0.06Suggestive
isolated agammaglobulinemiaOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
asthmaOpen Targets
0.05Suggestive
combined immunodeficiency due to CTPS1 deficiencyOpen Targets
0.05Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.05Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.05Suggestive
severe combined immunodeficiency due to CARD11 deficiencyOpen Targets
0.05Suggestive
immunodeficiency 18Open Targets
0.05Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.05Suggestive
Immunodeficiency by defective expression of HLA class 2Open Targets
0.05Suggestive
hyper-IgE recurrent infection syndrome 5, autosomal recessiveOpen Targets
0.05Suggestive
agammaglobulinemia 7, autosomal recessiveOpen Targets
0.05Suggestive
combined immunodeficiency due to moesin deficiencyOpen Targets
0.05Suggestive
agammaglobulinemia 8, autosomal dominantOpen Targets
0.05Suggestive
autoimmune diseaseOpen Targets
0.04Suggestive
allergic asthmaOpen Targets
0.04Suggestive
immunodeficiency 112Open Targets
0.04Suggestive
immunodeficiency 102Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KIAA1586Shared pathway100%UBE2IProtein interaction84%SMC5Protein interaction83%PRMT1Protein interaction78%ZNHIT1Protein interaction71%SRCAPProtein interaction71%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
63%
Ovary
55%
Liver
54%
Heart
37%
Brain
30%
Gene Interaction Network
Click a node to explore
NFATC2IPKIAA1586UBE2ISMC5PRMT1ZNHIT1SRCAP
PROTEIN STRUCTURE
Preparing viewer…
PDB3RD2 · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.50–0.99]
RankingsWhere NFATC2IP stands among ~20K protein-coding genes
  • #10,216of 20,598
    Most Researched40
  • #9,472of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedNFATC2IP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell landscape of alternative polyadenylation in human lymphoid hematopoiesis.
PMID: 38982223
J Mol Cell Biol · 2024
1.00
2
NFATC2IP is a mediator of SUMO-dependent genome integrity.
PMID: 38503515
Genes Dev · 2024
0.90
3
Calcium channel TRPV6 promotes breast cancer metastasis by NFATC2IP.
PMID: 34265397
Cancer Lett · 2021
0.80
4
Genetic, epigenetic and transcriptional variations at NFATC2IP locus with weight loss in response to diet interventions: The POUNDS Lost Trial.
PMID: 29693310
Diabetes Obes Metab · 2018
0.70
5
New candidate genes for ST-elevation myocardial infarction.
PMID: 31589004
J Intern Med · 2020
0.60