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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.-.- 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. Diseases associated with AEN include Benign Epilepsy With Centrotemporal Spikes. Gene Ontology (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.

Additional gene information for AEN Gene

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

Genomics for AEN Gene

GeneHancer (GH) Regulatory Elements for AEN Gene

Promoters and enhancers for AEN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J088620 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 657.3 +21.8 21774 11.7 HDGF PKNOX1 CLOCK SMAD1 MLX ARID4B SIN3A DMAP1 ZBTB7B IRF4 AEN POLG HMGB1P8 FANCI ISG20 GC15M088633 PIR37400 MIR3529
GH15J088603 Promoter/Enhancer 1.4 EPDnew ENCODE 650.7 +0.4 421 2.2 ARID4B SIN3A ZNF2 ZNF48 GLIS2 ZNF143 ATF7 NCOA1 MIER2 REST AEN GC15M088591 LINC01586
GH15J088634 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.4 +33.9 33902 8.8 CLOCK MLX YBX1 FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 ISG20 AEN ABHD2 PIR50540
GH15J088655 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.6 +51.9 51874 3 PKNOX1 ZFP64 BMI1 IRF4 RAD21 ZNF143 ATF7 IKZF2 RUNX3 CREM ISG20 AEN MIR7-2 ENSG00000173867 MRPL46 MRPS11 HAPLN3 PIR50540
GH15J089016 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.2 +413.0 412957 2.6 ZFP64 SIN3A ZNF2 ZNF213 E2F8 ZNF143 FOS KLF13 SP3 REST HAPLN3 RLBP1 AEN ENSG00000173867 MFGE8 GC15P089023 LOC100129942
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AEN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AEN gene promoter:
  • STAT1
  • Pax-3
  • HEN1
  • Olf-1
  • FOXJ2
  • RFX1
  • FOXJ2 (long isoform)
  • Chx10
  • Hand1
  • E47

Genomic Locations for AEN Gene

Genomic Locations for AEN Gene
chr15:88,604,681-88,632,282
(GRCh38/hg38)
Size:
27,602 bases
Orientation:
Plus strand
chr15:89,164,527-89,175,513
(GRCh37/hg19)
Size:
10,987 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

Post-translational modifications for AEN Gene

  • Ubiquitination at posLast=170170
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AEN Gene

Domains & Families for AEN Gene

Gene Families for AEN Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AEN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for AEN Gene

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

Phenotypes From GWAS Catalog 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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

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, Investigational Pharma 1024
insulin Pharma 4893
Insulin, Globin Zinc Pharma 4892
pancreatin Pharma 1024
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:

Clone 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 CGAP 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, 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

Evidence on tissue expression from TISSUES for AEN Gene

  • Intestine(4.2)
  • Muscle(4.1)
  • Nervous system(3)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with AEN: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AEN 34 33
  • 85.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AEN 34 33
  • 83.9 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aen 33
  • 80.25 (n)
mouse
(Mus musculus)
Mammalia Aen 16 34 33
  • 78.26 (n)
oppossum
(Monodelphis domestica)
Mammalia AEN 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves AEN 34 33
  • 64.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AEN 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aen 33
  • 57.71 (n)
Str.7943 33
zebrafish
(Danio rerio)
Actinopterygii isg20 34
  • 32 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.531 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REX4 34
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AEN: view image

Paralogs for AEN Gene

Paralogs for AEN Gene

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

  • AEN_HUMAN
  • H0YMJ6_HUMAN
  • L8EB49_HUMAN
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 Variation AA Info Type
rs1000116081 -- 88,629,433(+) G/C intron_variant
rs1000122387 -- 88,621,469(+) C/T 5_prime_UTR_variant, intron_variant
rs1000202059 -- 88,625,408(+) C/T intron_variant
rs1000211939 -- 88,610,249(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000300613 -- 88,615,182(+) G/A genic_upstream_transcript_variant, 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)

Additional Variant Information for AEN Gene

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

SNP Genotyping and Copy Number Assay Products

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

MalaCards: The human disease database

(1) MalaCards diseases for AEN Gene - From: DISEASES

Disorder Aliases PubMed IDs
benign epilepsy with centrotemporal spikes
  • bcects
- elite association - COSMIC cancer census association via MalaCards
Search AEN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AEN

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

No data available for 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 58
  2. Identification of a novel ionizing radiation-induced nuclease, AEN, and its functional characterization in apoptosis. (PMID: 16171785) Lee JH … Bae S (Biochemical and biophysical research communications 2005) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for AEN Gene

Sources for AEN Gene

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