Gene Gene information from NCBI Gene database.
Entrez ID 284131
Gene name Endonuclease V
Gene symbol ENDOV
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q25.3
miRNA miRNA information provided by mirtarbase database.
67
miRTarBase ID miRNA Experiments Reference
MIRT963438 hsa-miR-1273d CLIP-seq
MIRT963439 hsa-miR-15a CLIP-seq
MIRT963440 hsa-miR-15b CLIP-seq
MIRT963441 hsa-miR-16 CLIP-seq
MIRT963442 hsa-miR-181a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0000287 Function Magnesium ion binding ISS
GO:0000287 Function Magnesium ion binding TAS 23912683
GO:0003677 Function DNA binding IDA 23139746
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619821 26640 ENSG00000173818
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N8Q3
Protein name Endonuclease V (hEndoV) (EC 3.1.26.-) (Inosine-specific endoribonuclease)
Protein function [Isoform 1]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:23912683, PubMed:23912718, PubMed:25195743, PubMed:27573237, PubMed:31703097). Active against bo
PDB 4NSP , 6OZE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04493 Endonuclease_5 23 241 Endonuclease V Domain
Sequence
Sequence length 282
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MOYAMOYA DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UMLS: C0007644 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 15603216
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 25053281
★☆☆☆☆
Found in Text Mining only
Cockayne Syndrome Cockayne Syndrome BEFREE 9372849
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms BEFREE 11896624
★☆☆☆☆
Found in Text Mining only
Diabetes Insipidus Diabetes Insipidus BEFREE 29223016
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of skin Skin cancer BEFREE 15603216
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 25053281
★☆☆☆☆
Found in Text Mining only
Skin lesion Skin Lesion BEFREE 11809366
★☆☆☆☆
Found in Text Mining only
Xeroderma Pigmentosum Xeroderma Pigmentosum BEFREE 2918866, 3014326, 8386177
★☆☆☆☆
Found in Text Mining only
Xeroderma Pigmentosum Complementation Group B Xeroderma pigmentosum Pubtator 7479008 Associate
★☆☆☆☆
Found in Text Mining only