ENDOV

Chr 17

endonuclease V

NCBI Gene: 284131UniProt: Q8N8Q3

Enables DNA binding activity; RNA endonuclease activity, producing 5'-phosphomonoesters; and single-stranded RNA binding activity. Predicted to be involved in DNA repair. Located in cytoplasmic stress granule and nucleolus. [provided by Alliance of Genome Resources, Apr 2025]

0
Active trials
0
ClinVar variants
0
Pathogenic / LP
-0.4
Missense Z
1.35
LOEUF
3
Pubs (2 yr)
Clinical Summary— ENDOV
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 500 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ENDOV?content-type=application/json&expand=1

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
1.35LOEUF
pLI 0.000
Z-score 0.46
OE 0.88 (0.59–1.35)
Tolerant

Highly tolerant — LoF variants common in population

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.
-0.36Z-score
OE missense 1.08 (0.95–1.22)
177 obs / 163.9 exp
Tolerant

Tolerant to missense variation

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.0.88 (0.59–1.35)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.08 (0.95–1.22)
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.1.14
0≤1.21.6
LoF obs/exp: 15 / 17.0Missense obs/exp: 177 / 163.9Syn Z: -0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ENDOV · 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
ENDONUCLEASE V; ENDOV
MIM #619821 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.
Försti A et al.·Int J Cancer
2025
Deletion of Endonuclease V suppresses chemically induced hepatocellular carcinoma.
Kong XY et al.·Nucleic Acids Res
2020
Exploring C-to-G and A-to-Y Base Editing in Rice by Using New Vector Tools.
Zeng D et al.·Int J Mol Sci
2022
Genome-wide association study identifies novel susceptibilities to adult moyamoya disease.
Jeon JP et al.·J Hum Genet
2023
Complex alternative splicing of human Endonuclease V mRNA, but evidence for only a single protein isoform.
Berges N et al.·PLoS One
2019
Development of an Endonuclease V-Assisted Analytical Method for Sequencing Analysis of Deoxyinosine in DNA.
Zheng X et al.·Anal Chem
2022
High sensitivity EndoV mutation scanning through real-time ligase proofreading.
Pincas H et al.·Nucleic Acids Res
2004
An endonuclease/ligase based mutation scanning method especially suited for analysis of neoplastic tissue.
Huang J et al.·Oncogene
2002
Intracavernous anterior cerebral artery origin with associated arteriovenous malformations: a developmental analysis: case report.
Singer RJ et al.·Neurosurgery
1997Case report
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
Repair of Hypoxanthine in DNA Revealed by DNA Glycosylases and Endonucleases From Hyperthermophilic Archaea
Lin T et al.·Front Microbiol
2021
Endonuclease V from the archaeon Thermococcus kodakarensis is an inosine-specific ribonuclease.
Shiraishi M et al.·Biosci Biotechnol Biochem
2022
Biochemical and mutational studies of an endonuclease V from the hyperthermophilic crenarchaeon Sulfolobus islandicus REY15A.
Yin Y et al.·World J Microbiol Biotechnol
2023
Integration of a single-step genome-wide association study with a multi-tissue transcriptome analysis provides novel insights into the genetic basis of wool and weight traits in sheep
Zhao B et al.·Genet Sel Evol
2021
Endonuclease V Regulates Atherosclerosis Through C-C Motif Chemokine Ligand 2-Mediated Monocyte Infiltration
Kong XY et al.·J Am Heart Assoc
2021
Genome-phenome wide association study of broadly defined headache
Hsu WT et al.·Brain Commun
2023
Mechanism of Nucleic Acid Phosphodiester Bond Cleavage by Human Endonuclease V: MD and QM/MM Calculations Reveal a Versatile Metal Dependence.
Kaur R et al.·J Phys Chem B
2024Functional
Harnessing Nature's Molecular Recognition Capabilities to Map and Study RNA Modifications.
Felix AS et al.·Acc Chem Res
2022
Top 8 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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