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Aliases for ENDOV Gene

Aliases for ENDOV Gene

  • Endonuclease V 2 3 5
  • Inosine-Specific Endoribonuclease 3 4
  • HEndoV 3 4
  • EC 3.1.26.- 4

External Ids for ENDOV Gene

Previous GeneCards Identifiers for ENDOV Gene

  • GC17P078389

Summaries for ENDOV Gene

GeneCards Summary for ENDOV Gene

ENDOV (Endonuclease V) is a Protein Coding gene. Diseases associated with ENDOV include Uv-Sensitive Syndrome. GO annotations related to this gene include magnesium ion binding and single-stranded RNA binding.

UniProtKB/Swiss-Prot for ENDOV Gene

  • 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.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENDOV Gene

Genomics for ENDOV Gene

Regulatory Elements for ENDOV Gene

Enhancers for ENDOV Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G080663 1.4 Ensembl ENCODE dbSUPER 10.4 +249.2 249244 2.2 HDGF ZSCAN4 KLF17 ZNF366 ZSCAN5C SCRT2 ZNF263 JUNB TSHZ1 ZNF398 RPTOR ENDOV CEP131 RPL31P7 GC17P080792
GH17G080702 1.3 Ensembl ENCODE dbSUPER 10.3 +288.7 288696 2.8 CTCF TFAP4 SAP130 ZMYM3 BACH1 THRB ZNF48 RAD21 RARA ZNF316 RPTOR NPTX1 ENDOV GC17P080792 RPL31P7
GH17G080927 1.2 FANTOM5 ENCODE dbSUPER 10.6 +512.5 512531 1.2 CTCF KLF1 JUN CHD4 MNT ZIC2 RAD21 HIC1 POLR2A GATA2 ENDOV RPTOR ENSG00000262313 LOC105371921
GH17G080665 1.2 ENCODE dbSUPER 10.4 +252.4 252397 3.5 FOXA2 MLX ARID4B DMAP1 ZNF48 SLC30A9 SP5 MIER2 PPARG PPARGC1A RPTOR ENDOV RPL31P7 GC17P080792
GH17G080441 1 ENCODE 11.7 +26.2 26159 0.2 MLX ZFP64 ARID4B ZNF48 SLC30A9 ZNF766 GLIS2 ZNF143 ZNF263 SP5 NPTX1 ENDOV ENSG00000262877 ENSG00000260369 MIR4730
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENDOV on UCSC Golden Path with GeneCards custom track

Promoters for ENDOV Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000099200 183 1801 HNRNPUL1 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for ENDOV Gene

Chromosome:
17
Start:
80,415,117 bp from pter
End:
80,438,086 bp from pter
Size:
22,970 bases
Orientation:
Plus strand

Genomic View for ENDOV Gene

Genes around ENDOV on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENDOV Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENDOV Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENDOV Gene

Proteins for ENDOV Gene

  • Protein details for ENDOV Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8Q3-ENDOV_HUMAN
    Recommended name:
    Endonuclease V
    Protein Accession:
    Q8N8Q3
    Secondary Accessions:
    • I3L3S4
    • Q6P2G2
    • Q86X99
    • Q8NAK0

    Protein attributes for ENDOV Gene

    Size:
    282 amino acids
    Molecular mass:
    30792 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Was initially characterized as an endodeoxyribonuclease involved in DNA repair (PubMed:22664237). While it shows some weak endodeoxyribonuclease activity in vitro, such activity probably does not exist in vivo.

    Three dimensional structures from OCA and Proteopedia for ENDOV Gene

    Alternative splice isoforms for ENDOV Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENDOV Gene

Post-translational modifications for ENDOV Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ENDOV Gene

Domains & Families for ENDOV Gene

Protein Domains for ENDOV Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENDOV Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N8Q3

UniProtKB/Swiss-Prot:

ENDOV_HUMAN :
  • Belongs to the endonuclease V family.
Family:
  • Belongs to the endonuclease V family.
genes like me logo Genes that share domains with ENDOV: view

No data available for Gene Families for ENDOV Gene

Function for ENDOV Gene

Molecular function for ENDOV Gene

UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ENDOV Gene

Gene Ontology (GO) - Molecular Function for ENDOV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding TAS 23912683
GO:0003677 DNA binding IEA,IDA 23139746
GO:0003723 RNA binding IEA --
GO:0003727 single-stranded RNA binding IDA 23912683
GO:0004518 nuclease activity IEA --
genes like me logo Genes that share ontologies with ENDOV: view

Phenotypes for ENDOV Gene

GenomeRNAi human phenotypes for ENDOV:
genes like me logo Genes that share phenotypes with ENDOV: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ENDOV Gene

Localization for ENDOV Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENDOV Gene

Cytoplasm. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENDOV gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ENDOV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA,IDA 23139746
GO:0005737 cytoplasm IDA,IEA 23139746
genes like me logo Genes that share ontologies with ENDOV: view

Pathways & Interactions for ENDOV Gene

SuperPathways for ENDOV Gene

No Data Available

Gene Ontology (GO) - Biological Process for ENDOV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA,ISS --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
genes like me logo Genes that share ontologies with ENDOV: view

No data available for Pathways by source and SIGNOR curated interactions for ENDOV Gene

Drugs & Compounds for ENDOV Gene

No Compound Related Data Available

Transcripts for ENDOV Gene

Unigene Clusters for ENDOV Gene

Endonuclease V:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENDOV Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^
SP1: - - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - -
SP13: - - - - - - - - - - -
SP14: - - - - - - - - - - -
SP15: - - - - - - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - - - - - -
SP17: - - - - - - - - - - - -
SP18: - - - - - - - - -
SP19: - - - - - - - - - - - - - - -
SP20: - - - - - - - - - - - -
SP21: - - - - - - - - - - - -
SP22: - - - - - - - - - -
SP23: - - - - - -
SP24: -
SP25: - - - - -

ExUns: 11 ^ 12a · 12b · 12c · 12d ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: -
SP6: - -
SP7: - - -
SP8: - -
SP9: - -
SP10: -
SP11: - - - - - -
SP12: - - - -
SP13:
SP14: -
SP15: - - - - - - -
SP16:
SP17:
SP18:
SP19: - - - - - -
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:

Relevant External Links for ENDOV Gene

GeneLoc Exon Structure for
ENDOV
ECgene alternative splicing isoforms for
ENDOV

Expression for ENDOV Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENDOV Gene

Protein differential expression in normal tissues from HIPED for ENDOV Gene

This gene is overexpressed in Neutrophil (21.4), Monocytes (20.5), Tlymphocyte (15.7), and Peripheral blood mononuclear cells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ENDOV Gene



Protein tissue co-expression partners for ENDOV Gene

NURSA nuclear receptor signaling pathways regulating expression of ENDOV Gene:

ENDOV

SOURCE GeneReport for Unigene cluster for ENDOV Gene:

Hs.728933

Evidence on tissue expression from TISSUES for ENDOV Gene

  • Nervous system(4.2)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with ENDOV: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENDOV Gene

Orthologs for ENDOV Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENDOV Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENDOV 34 35
  • 94.74 (n)
dog
(Canis familiaris)
Mammalia ENDOV 34 35
  • 84.12 (n)
mouse
(Mus musculus)
Mammalia Endov 34 16 35
  • 82.49 (n)
cow
(Bos Taurus)
Mammalia ENDOV 35
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENDOV 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENDOV 34 35
  • 70.19 (n)
lizard
(Anolis carolinensis)
Reptilia ENDOV 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia endov 34
  • 63.16 (n)
Str.16545 34
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G31150 34
  • 52.52 (n)
rice
(Oryza sativa)
Liliopsida Os06g0663600 34
  • 54.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToOne
Species where no ortholog for ENDOV was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ENDOV Gene

ENSEMBL:
Gene Tree for ENDOV (if available)
TreeFam:
Gene Tree for ENDOV (if available)

Paralogs for ENDOV Gene

No data available for Paralogs for ENDOV Gene

Variants for ENDOV Gene

Sequence variations from dbSNP and Humsavar for ENDOV Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000082669 -- 80,423,936(+) GGACG(A/G)GCTTC intron-variant
rs1000246146 -- 80,428,012(+) GACCC(C/T)CCATG intron-variant
rs1000378664 -- 80,437,498(+) GCTCC(A/G)AACCC utr-variant-3-prime
rs1000473972 -- 80,427,591(+) GCGTG(A/T)GCCGA intron-variant
rs1000536666 -- 80,433,648(+) GTAGG(C/T)TTTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ENDOV Gene

Variant ID Type Subtype PubMed ID
esv24254 CNV gain+loss 19812545
esv3641376 CNV loss 21293372
nsv524479 CNV loss 19592680

Variation tolerance for ENDOV Gene

Residual Variation Intolerance Score: 93.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.36; 76.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENDOV Gene

Human Gene Mutation Database (HGMD)
ENDOV
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENDOV

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENDOV Gene

Disorders for ENDOV Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENDOV Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
uv-sensitive syndrome
  • uv sensitive syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ENDOV in MalaCards View complete list of genes associated with diseases

Relevant External Links for ENDOV

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENDOV
genes like me logo Genes that share disorders with ENDOV: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENDOV Gene

Publications for ENDOV Gene

  1. Human endonuclease V is a ribonuclease specific for inosine-containing RNA. (PMID: 23912718) Morita Y. … Kuraoka I. (Nat Commun 2013) 3 4 64
  2. Endonuclease V cleaves at inosines in RNA. (PMID: 23912683) Sebastian Vik E. … Alseth I. (Nat. Commun. 2013) 3 4 64
  3. The human homolog of Escherichia coli endonuclease V is a nucleolar protein with affinity for branched DNA structures. (PMID: 23139746) Fladeby C. … Alseth I. (PLoS ONE 2012) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Incision at hypoxanthine residues in DNA by a mammalian homologue of the Escherichia coli antimutator enzyme endonuclease V. (PMID: 12853604) Moe A. … Klungland A. (Nucleic Acids Res. 2003) 2 3 64

Products for ENDOV Gene

Sources for ENDOV Gene

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