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Aliases for AEN Gene

Aliases for AEN Gene

  • Apoptosis Enhancing Nuclease 2 3 5
  • Interferon Stimulated Exonuclease Gene 20kDa-Like 1 2 3
  • Interferon-Stimulated 20 KDa Exonuclease-Like 1 3 4
  • ISG20L1 3 4
  • Apoptosis-Enhancing Nuclease 3
  • EC 3.1.13.1 61
  • EC 3.1.-.- 4
  • Pp12744 3

External Ids for AEN Gene

Previous HGNC Symbols for AEN Gene

  • ISG20L1

Previous GeneCards Identifiers for AEN Gene

  • GC15P086967
  • GC15P089164
  • GC15P065276
  • GC15P088621

Summaries for AEN Gene

GeneCards Summary for AEN Gene

AEN (Apoptosis Enhancing Nuclease) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding and exonuclease activity. An important paralog of this gene is ISG20L2.

UniProtKB/Swiss-Prot for AEN Gene

  • Exonuclease with activity against single- and double-stranded DNA and RNA. Mediates p53-induced apoptosis. When induced by p53 following DNA damage, digests double-stranded DNA to form single-stranded DNA and amplifies DNA damage signals, leading to enhancement of apoptosis.

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

Genomics for AEN Gene

Regulatory Elements for AEN Gene

Enhancers for AEN 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
GH15F088655 1.1 Ensembl ENCODE 12.6 +53.1 53054 5.3 PKNOX1 ZFP64 BMI1 RAD21 EGR1 CBX5 ZNF143 FOS CREM ZNF263 ISG20 AEN MIR7-2 ENSG00000173867 MRPL46 MRPS11 HAPLN3 ACAN PIR50540
GH15F088634 1.8 FANTOM5 Ensembl ENCODE 7.4 +33.9 33938 8.7 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A YBX1 FEZF1 ISG20 AEN ABHD2 PIR50540
GH15F089016 1.3 Ensembl ENCODE 10.2 +413.0 412957 2.6 ZFP64 SIN3A ZNF48 ZNF2 ELK1 GATA2 ZNF143 KLF7 FOS ZNF263 LOC100631255 POLG HAPLN3 RLBP1 AEN ENSG00000173867 MFGE8 GC15P089023 LOC100129942
GH15F088903 1.2 Ensembl ENCODE 10 +300.4 300422 2.6 PKNOX1 KLF17 ARID4B ZNF2 RAD21 GLIS2 GATA2 ZNF143 ZNF207 CREM AEN HAPLN3 MFGE8 GC15P088896
GH15F089001 1.2 Ensembl ENCODE 9.6 +398.5 398545 3.3 PKNOX1 ELK1 FOS ZNF263 REST MEF2D MAFF SMARCA4 MYNN CTCF MFGE8 HAPLN3 RLBP1 AEN LOC100129942 GC15P089023
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AEN on UCSC Golden Path with GeneCards custom track

Genomic Location for AEN Gene

Chromosome:
15
Start:
88,604,681 bp from pter
End:
88,632,282 bp from pter
Size:
27,602 bases
Orientation:
Plus strand

Genomic View for AEN Gene

Genes around AEN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AEN Gene

Proteins for AEN Gene

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

    Protein Symbol:
    Q8WTP8-AEN_HUMAN
    Recommended name:
    Apoptosis-enhancing nuclease
    Protein Accession:
    Q8WTP8
    Secondary Accessions:
    • C9J571
    • Q9BSA5
    • Q9H9X7

    Protein attributes for AEN Gene

    Size:
    325 amino acids
    Molecular mass:
    36350 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH14407.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14091.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for AEN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AEN Gene

Selected DME Specific Peptides for AEN Gene

Q8WTP8:
  • VLYDKYIRPE
  • HSSVEDA

Post-translational modifications for AEN Gene

  • Ubiquitination at Lys 170
  • Modification sites at PhosphoSitePlus

Domains & Families for AEN Gene

Gene Families for AEN Gene

Suggested Antigen Peptide Sequences for AEN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WTP8

UniProtKB/Swiss-Prot:

AEN_HUMAN :
  • Contains 1 exonuclease domain.
Domain:
  • Contains 1 exonuclease domain.
genes like me logo Genes that share domains with AEN: view

Function for AEN Gene

Molecular function for AEN Gene

UniProtKB/Swiss-Prot Function:
Exonuclease with activity against single- and double-stranded DNA and RNA. Mediates p53-induced apoptosis. When induced by p53 following DNA damage, digests double-stranded DNA to form single-stranded DNA and amplifies DNA damage signals, leading to enhancement of apoptosis.
UniProtKB/Swiss-Prot Induction:
Up-regulated by p53/TP53 in response to ionizing radiation and DNA-damaging agents such as adriamycin. Phosphorylation of p53/TP53 at Ser-15 is required for effective induction.

Enzyme Numbers (IUBMB) for AEN Gene

Gene Ontology (GO) - Molecular Function for AEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004527 exonuclease activity IEA,IDA 16171785
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with AEN: view
genes like me logo Genes that share phenotypes with AEN: view

Animal Model Products

miRNA for AEN Gene

miRTarBase miRNAs that target AEN

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for AEN Gene

Subcellular locations from UniProtKB/Swiss-Prot for AEN Gene

Nucleus. Nucleus, nucleolus. Note=Localized predomintly in the nucleolus. Translocates from the nucleolus to the nucleoplasm upon apoptosis induction.

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 AEN gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for AEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA 16171785
GO:0005730 nucleolus IDA 18264133
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with AEN: view

Pathways & Interactions for AEN Gene

No Data Available

Gene Ontology (GO) - Biological Process for AEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0010212 response to ionizing radiation IDA 16171785
GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IDA 18264133
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with AEN: view

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

Drugs & Compounds for AEN Gene

(4) Drugs for AEN Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pancrelipase Approved Pharma 935
insulin Pharma 4524
Insulin, Globin Zinc Pharma 4523
pancreatin Pharma 935
genes like me logo Genes that share compounds with AEN: view

Transcripts for AEN Gene

Unigene Clusters for AEN Gene

Apoptosis enhancing nuclease:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for AEN Gene

GeneLoc Exon Structure for
AEN
ECgene alternative splicing isoforms for
AEN

Expression for AEN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AEN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (68.9).

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



Protein tissue co-expression partners for AEN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AEN Gene:

AEN

SOURCE GeneReport for Unigene cluster for AEN Gene:

Hs.436102
genes like me logo Genes that share expression patterns with AEN: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AEN Gene

Orthologs for AEN Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AEN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AEN 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia AEN 34 35
  • 85.8 (n)
cow
(Bos Taurus)
Mammalia AEN 34 35
  • 83.9 (n)
rat
(Rattus norvegicus)
Mammalia Aen 34
  • 80.25 (n)
mouse
(Mus musculus)
Mammalia Aen 34 16 35
  • 78.26 (n)
oppossum
(Monodelphis domestica)
Mammalia AEN 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves AEN 34 35
  • 64.25 (n)
lizard
(Anolis carolinensis)
Reptilia AEN 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aen 34
  • 57.71 (n)
Str.7943 34
zebrafish
(Danio rerio)
Actinopterygii isg20 35
  • 32 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.531 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REX4 35
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for AEN 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)
  • 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)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AEN Gene

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

Paralogs for AEN Gene

Paralogs for AEN Gene

(3) SIMAP similar genes for AEN Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with AEN: view

Variants for AEN Gene

Sequence variations from dbSNP and Humsavar for AEN Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1047276 -- 88,631,942(+) GAGGT(A/G)CAGAC utr-variant-3-prime
rs1047278 -- 88,631,943(+) AGGTA(C/G)AGACA utr-variant-3-prime
rs10635348 -- 88,610,322(+) GCTAT(-/TT)TTTTT intron-variant, upstream-variant-2KB
rs10675724 -- 88,610,323(+) TTTTT(-/TT)GTAAA intron-variant, upstream-variant-2KB
rs10701067 -- 88,624,883(+) GCCTC(-/AAAAAA/AAAAAAA)AAAAA intron-variant

Variation tolerance for AEN Gene

Residual Variation Intolerance Score: 88.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.03; 80.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AEN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AEN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AEN Gene

Disorders for AEN Gene

Relevant External Links for AEN

Genetic Association Database (GAD)
AEN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AEN

No disorders were found for AEN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AEN Gene

Publications for AEN Gene

  1. p53 target gene AEN is a nuclear exonuclease required for p53- dependent apoptosis. (PMID: 18264133) Kawase T. … Taya Y. (Oncogene 2008) 2 3 4 64
  2. Identification of a novel ionizing radiation-induced nuclease, AEN, and its functional characterization in apoptosis. (PMID: 16171785) Lee J.-H. … Bae S. (Biochem. Biophys. Res. Commun. 2005) 2 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for AEN Gene

Sources for AEN Gene

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