ENDOV
protein-codingendonuclease V, the group of MicroRNA protein coding host genes
Gene summary
Enables DNA binding activity; RNA endonuclease activity producing 5'-phosphomonoesters, hydrolytic mechanism; 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, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~22.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ENDOV variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_173627.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 59 | 1 | 1 | 61 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 62 | 1 | 1 | 64 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_775898.2 | 10 | MANE Select | |
| Ensembl | ENSP00000429190.1 | 10 | MANE Select | |
| RefSeq | NP_001158109.1 | 9 | Standard | |
| RefSeq | NP_001158110.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- DNA repair
- RNA phosphodiester bond hydrolysis, endonucleolytic
Molecular Function
- magnesium ion binding
- DNA binding
- single-stranded RNA binding
- endodeoxyribonuclease activity, producing 5'-phosphomonoesters
- endoribonuclease activity, producing 5'-phosphomonoesters
Cellular Component
- nucleolus
- cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000518137
- Coding exons
- 10
- Length
- 22922
- Individuals with no LoFs
- 123944
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 513
- Defined
- 124458
- p
- 0.00207
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.363 | 177 | 164 | 1.08 | 0.00000945 | 1719 |
| Missense (PolyPhen) | 50 | 44.624 | 1.1205 | 482 | ||
| Synonymous | -0.971 | 85 | 74.3 | 1.14 | 0.00000455 | 594 |
| Loss of Function | 0.457 | 15 | 17.0 | 0.880 | 9.85e-7 | 174 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00091 | 0.00084 | rare |
| Latino/Admixed American | 0.00027 | 0.00026 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.016 | 0.016 | notable |
| Finnish | 0.0036 | 0.0036 | notable |
| European (Non-Finnish) | 0.00050 | 0.00048 | rare |
| South Asian | 0.0019 | 0.0018 | notable |
| Other | 0.0024 | 0.0023 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Endoribonuclease that specifically cleaves inosine- containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine. Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs). Cleaves mRNAs and tRNAs containing inosine. Also able to cleave structure-specific dsRNA substrates containing the specific sites 5'-IIUI-3' and 5'- UIUU-3'. Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A-to-I editing. Binds branched DNA structures. {ECO:0000269|PubMed:23139746, ECO:0000269|PubMed:23912683, ECO:0000269|PubMed:23912718}.;
Intolerance Scores
- RVIS EVS
- -0.02
- RVIS percentile EVS
- 52.09
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |