NUFIP2

Chr 17

nuclear FMR1 interacting protein 2

Also known as: 182-FIP, 82-FIP, FIP-82, NUFP2, PIG1

NCBI Gene: 57532ENSG00000108256UniProt: Q7Z417

Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
8
Pathogenic / LP
126
ClinVar variants
4
Pubs (1 yr)
0.6
Missense Z
0.20
LOEUF· LoF intolerant
Clinical Summary— NUFIP2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 96 VUS of 126 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.20LOEUF
pLI 0.999
Z-score 4.37
OE 0.04 (0.01–0.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.60Z-score
OE missense 0.91 (0.83–1.00)
322 obs / 354.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.04 (0.01–0.20)
0≤0.351.4
Missense OE0.91 (0.83–1.00)
0≤0.61.4
Synonymous OE1.22
0≤1.21.6
LoF obs/exp: 1 / 24.2Missense obs/exp: 322 / 354.0Syn Z: -2.03
LOF
DN
0.2798th %ile
GOF
0.4085th %ile
LOF
0.86top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.20

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

126 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
Likely Pathogenic1
VUS96
Likely Benign17
Benign5
7
Pathogenic
1
Likely Pathogenic
96
VUS
17
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
1
0
1
VUS
0
92
4
0
96
Likely Benign
0
8
1
8
17
Benign
0
3
0
2
5
Total01031310126

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

NUFIP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients