NFATC2IP

nuclear factor of activated T cells 2 interacting protein, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 16:28950807-28967092

Links

ENSG00000176953NCBI:84901OMIM:614525HGNC:25906Uniprot:Q8NCF5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NFATC2IP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NFATC2IP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
26
clinvar
1
clinvar
27
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 26 1 0

Variants in NFATC2IP

This is a list of pathogenic ClinVar variants found in the NFATC2IP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
16-28951022-C-T not specified Uncertain significance (Nov 17, 2022)2326294
16-28951072-G-A not specified Uncertain significance (Jan 21, 2025)3879237
16-28951091-G-C not specified Uncertain significance (Sep 22, 2022)2312681
16-28951117-C-G not specified Uncertain significance (Dec 09, 2024)3405126
16-28951127-C-T not specified Uncertain significance (Oct 03, 2022)2315974
16-28951136-C-T not specified Uncertain significance (Jun 07, 2024)3299494
16-28951151-C-G not specified Uncertain significance (Sep 30, 2024)3405124
16-28951153-G-A not specified Uncertain significance (Oct 20, 2023)3196647
16-28951184-T-G not specified Uncertain significance (Aug 15, 2023)2618793
16-28951218-C-A not specified Uncertain significance (Aug 26, 2024)3405119
16-28951235-C-G not specified Uncertain significance (Dec 26, 2023)3196653
16-28951238-C-G not specified Uncertain significance (Jun 28, 2024)3405122
16-28951253-C-T not specified Uncertain significance (Aug 12, 2021)2243461
16-28951268-A-C not specified Uncertain significance (Feb 27, 2025)3879243
16-28951282-G-A not specified Uncertain significance (Jan 26, 2025)3879242
16-28951340-G-T not specified Uncertain significance (Aug 17, 2022)2387149
16-28951367-A-T not specified Uncertain significance (Aug 11, 2024)3405123
16-28951394-G-A not specified Likely benign (Jul 20, 2021)2238866
16-28952199-A-C not specified Uncertain significance (May 17, 2023)2512004
16-28954583-C-T not specified Uncertain significance (Dec 14, 2023)3196666
16-28954607-C-T not specified Uncertain significance (Jul 27, 2024)3405120
16-28956031-C-T not specified Uncertain significance (Jul 20, 2021)2388277
16-28956039-C-T not specified Uncertain significance (Jun 01, 2023)2513826
16-28956165-G-A not specified Uncertain significance (Mar 08, 2025)3879235
16-28956254-G-A not specified Uncertain significance (Jan 25, 2025)3879241

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
NFATC2IPprotein_codingprotein_codingENST00000320805 816291
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00001740.8881257300171257470.0000676
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6401902170.8780.00001152633
Missense in Polyphen5270.5860.73669834
Synonymous1.427289.00.8090.00000430932
Loss of Function1.511016.70.6008.61e-7204

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001520.000152
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.00004620.0000462
European (Non-Finnish)0.00006200.0000615
Middle Eastern0.0002180.000217
South Asian0.00006530.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: 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). {ECO:0000250}.;

Recessive Scores

pRec
0.0985

Haploinsufficiency Scores

pHI
0.0960
hipred
N
hipred_score
0.274
ghis
0.583

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.773

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Nfatc2ip
Phenotype
immune system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
cytokine production;positive regulation of transcription by RNA polymerase II
Cellular component
nucleus;cytoplasm
Molecular function