YPEL2

Chr 17

yippee like 2

Also known as: FKSG4

NCBI Gene: 388403UniProt: Q96QA6

Predicted to enable metal ion binding activity. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
4
Pubs (1 yr)
1.8
Missense Z
0.32
LOEUF· LoF intolerant
Clinical Summary— YPEL2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.95). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.32LOEUF
pLI 0.950
Z-score 2.85
OE 0.00 (0.00–0.32)
Highly constrained

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

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.80Z-score
OE missense 0.36 (0.25–0.51)
22 obs / 61.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.00 (0.00–0.32)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.36 (0.25–0.51)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.87
0≤1.21.6
LoF obs/exp: 0 / 9.5Missense obs/exp: 22 / 61.8Syn Z: 0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

YPEL2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
YIPPEE-LIKE 2; YPEL2
MIM #609723 · *

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
Key Publications
Landmark & review papers · by relevance
PubMed
YPEL2 regulates the efficacy of BRD4-EZH2 dual targeting in EZH2(Y641mut) germinal center-derived lymphoma.
Chamorro-Jorganes A et al.·Neoplasia
2025
In search of autophagy biomarkers in breast cancer: Receptor status and drug agnostic transcriptional changes during autophagy flux in cell lines.
Mascia F et al.·PLoS One
2022
Comprehensive analysis of the expression and prognosis of YPEL family members in clear cell renal cell cancer.
Wang L et al.·Oncol Rep
2022
Identification of Pharmacodynamic Transcript Biomarkers in Response to FGFR Inhibition by AZD4547.
Delpuech O et al.·Mol Cancer Ther
2016
Multi-Ethnic Genome-Wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits.
Baldassari AR et al.·Circ Genom Precis Med
2020
Analysis of HBV Integration Reveals New Insights of Oncogenic Mechanism in Dysplastic Liver Nodule.
Zeng X et al.·J Med Virol
2026Functional
Analysis of Hepatitis B Virus Integration Reveals New Insights of Oncogenic Mechanism in Dysplastic Liver Nodule.
Zeng X et al.·J Med Virol
2026Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 3 full-text resultsSearch PubTator3 ↗

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