Aliases for AVEN Gene

Aliases for AVEN Gene

  • Apoptosis And Caspase Activation Inhibitor 2 3 5
  • Cell Death Regulator Aven 2 3 4
  • Programmed Cell Death 12 2 3
  • PDCD12 2 3
  • Apoptosis, Caspase Activation Inhibitor 3
  • AVEN 5

External Ids for AVEN Gene

Previous GeneCards Identifiers for AVEN Gene

  • GC15M029400
  • GC15M026866
  • GC15M031737
  • GC15M031874
  • GC15M031945
  • GC15M034158
  • GC15M011021
  • GC15M033866

Summaries for AVEN Gene

GeneCards Summary for AVEN Gene

AVEN (Apoptosis And Caspase Activation Inhibitor) is a Protein Coding gene. Diseases associated with AVEN include Schizoid Personality Disorder and Alzheimer Disease Mitochondrial. Among its related pathways are Apoptosis and Autophagy.

UniProtKB/Swiss-Prot Summary for AVEN Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AVEN Gene

Genomics for AVEN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AVEN Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J034037 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 614.8 +35.8 35786 3 RNF2 GATAD2A HNRNPL TFE3 POLR2A BACH1 LARP7 ZNF143 RELA RBFOX2 AVEN lnc-EMC7-1 lnc-PGBD4-1 ENSG00000259505 CHRM5
GH15J034100 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 20.3 -26.8 -26824 3.4 BRCA1 SP1 CREB1 REST ZNF629 RFX1 SIX5 IKZF1 ZNF692 POLR2A PGBD4 EMC7 lnc-KATNBL1-2 AVEN KATNBL1 EMC4 RPL32P2
GH15J034046 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 16.1 +26.7 26748 3.4 RNF2 LEF1 IKZF1 JUND DDX20 MTA2 PHF21A ZIC2 PKNOX1 ZNF24 CHRM5 AVEN AQR HNRNPLP2 lnc-EMC7-1 ENSG00000259505 lnc-PGBD4-1
GH15J033984 Enhancer 0.9 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +89.4 89401 1.4 JUND CEBPB NR3C1 ENSG00000287840 NUTM1 CHRM5 AVEN ENSG00000259505 lnc-PGBD4-1
GH15J033987 Enhancer 0.5 Ensembl dbSUPER 20.3 +86.7 86676 1.6 NR2F1 NR2F6 AVEN ENSG00000259505 ENSG00000287840 lnc-PGBD4-1 CHRM5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AVEN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AVEN

Top Transcription factor binding sites by QIAGEN in the AVEN gene promoter:
  • c-Ets-1
  • Elk-1
  • NCX
  • Nkx2-5
  • NRF-2
  • STAT5A
  • STAT5B

Genomic Locations for AVEN Gene

Genomic Locations for AVEN Gene
223,093 bases
Minus strand
172,950 bases
Minus strand

Genomic View for AVEN Gene

Genes around AVEN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AVEN Gene

Proteins for AVEN Gene

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

    Protein Symbol:
    Recommended name:
    Cell death regulator Aven
    Protein Accession:

    Protein attributes for AVEN Gene

    362 amino acids
    Molecular mass:
    38506 Da
    Quaternary structure:
    • Binds Apaf-1, BCL-2 and BAD (Bcl-xl).

neXtProt entry for AVEN Gene

Post-translational modifications for AVEN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AVEN Gene

No data available for DME Specific Peptides for AVEN Gene

Domains & Families for AVEN Gene

Gene Families for AVEN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AVEN Gene


Suggested Antigen Peptide Sequences for AVEN Gene

GenScript: Design optimal peptide antigens:
  • Cell death regulator Aven (AVEN_HUMAN)
genes like me logo Genes that share domains with AVEN: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AVEN Gene

Function for AVEN Gene

Molecular function for AVEN Gene

UniProtKB/Swiss-Prot Function:
Protects against apoptosis mediated by Apaf-1.

Phenotypes From GWAS Catalog for AVEN Gene

Gene Ontology (GO) - Molecular Function for AVEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10949025
genes like me logo Genes that share ontologies with AVEN: view
genes like me logo Genes that share phenotypes with AVEN: view

Animal Models for AVEN Gene

MGI Knock Outs for AVEN:
  • Aven Aven<tm1.1Zrng>

Animal Model Products

CRISPR Products

miRNA for AVEN Gene

miRTarBase miRNAs that target AVEN

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AVEN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AVEN Gene

Localization for AVEN Gene

Subcellular locations from UniProtKB/Swiss-Prot for AVEN Gene

Endomembrane system. Peripheral membrane protein. Note=Associated with intracellular membranes.

Subcellular locations from

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 AVEN gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 2
cytoskeleton 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Centrosome (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AVEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA,IDA 10949025
genes like me logo Genes that share ontologies with AVEN: view

Pathways & Interactions for AVEN Gene

PathCards logo

SuperPathways for AVEN Gene

SuperPathway Contained pathways
1 Apoptosis and Autophagy
genes like me logo Genes that share pathways with AVEN: view

Pathways by source for AVEN Gene

1 Cell Signaling Technology pathway for AVEN Gene

Gene Ontology (GO) - Biological Process for AVEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0010972 negative regulation of G2/M transition of mitotic cell cycle IBA 21873635
GO:0043066 negative regulation of apoptotic process IDA 10949025
genes like me logo Genes that share ontologies with AVEN: view

No data available for SIGNOR curated interactions for AVEN Gene

Drugs & Compounds for AVEN Gene

(1) Drugs for AVEN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AVEN: view

Transcripts for AVEN Gene

mRNA/cDNA for AVEN Gene

5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AVEN

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

No ASD Table

Relevant External Links for AVEN Gene

GeneLoc Exon Structure for

Expression for AVEN Gene

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

Protein differential expression in normal tissues from HIPED for AVEN Gene

This gene is overexpressed in Bone marrow stromal cell (24.3) and Pancreas (15.1).

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AVEN

SOURCE GeneReport for Unigene cluster for AVEN Gene:


mRNA Expression by UniProt/SwissProt for AVEN Gene:

Tissue specificity: Highly expressed in testis, ovary, thymus, prostate, spleen, small intestine, colon, heart, skeletal muscle, liver, kidney and pancreas.

Evidence on tissue expression from TISSUES for AVEN Gene

  • Liver(4.3)
  • Kidney(4.3)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with AVEN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AVEN Gene

Orthologs for AVEN Gene

This gene was present in the common ancestor of chordates.

Orthologs for AVEN Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AVEN 30 31
  • 99.3 (n)
(Bos Taurus)
Mammalia AVEN 30 31
  • 84.44 (n)
(Canis familiaris)
Mammalia AVEN 30
  • 83.27 (n)
(Mus musculus)
Mammalia Aven 30 17 31
  • 80.51 (n)
(Rattus norvegicus)
Mammalia Aven 30
  • 78.16 (n)
(Monodelphis domestica)
Mammalia AVEN 31
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia AVEN 31
  • 39 (a)
(Gallus gallus)
Aves AVEN 30
  • 59.15 (n)
gga-mir-6683 31
  • 45 (a)
(Anolis carolinensis)
Reptilia AVEN 31
  • 42 (a)
(Danio rerio)
Actinopterygii aven 31
  • 37 (a)
Species where no ortholog for AVEN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for AVEN Gene

Gene Tree for AVEN (if available)
Gene Tree for AVEN (if available)
Evolutionary constrained regions (ECRs) for AVEN: view image

Paralogs for AVEN Gene

No data available for Paralogs for AVEN Gene

Variants for AVEN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AVEN Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
647526 Uncertain Significance: Epileptic encephalopathy 33,857,863(-) C/A MISSENSE_VARIANT
655305 Uncertain Significance: Epileptic encephalopathy 33,853,585(-) G/C MISSENSE_VARIANT
658572 Uncertain Significance: Epileptic encephalopathy 33,853,069(-) C/A MISSENSE_VARIANT
662347 Uncertain Significance: Epileptic encephalopathy 33,857,803(-) G/A SYNONYMOUS_VARIANT
692311 Uncertain Significance: Fetal akinesia sequence; Arthrogryposis multiplex congenita 33,854,403(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for AVEN Gene

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

Variant ID Type Subtype PubMed ID
dgv1188n106 CNV deletion 24896259
dgv310n27 CNV loss 19166990
dgv4456n54 CNV gain 21841781
dgv447e214 CNV gain 21293372
esv1207147 CNV insertion 17803354
esv24590 CNV loss 19812545
esv2648750 CNV insertion 19546169
esv2661499 CNV deletion 23128226
esv2678803 CNV deletion 23128226
esv27001 CNV gain 19812545
esv2761666 CNV loss 21179565
esv33337 CNV gain+loss 17666407
esv3395642 CNV duplication 20981092
esv3552283 CNV deletion 23714750
esv3569431 CNV gain 25503493
esv3581622 CNV loss 25503493
esv3636092 CNV gain 21293372
esv3636094 CNV loss 21293372
esv3636098 CNV loss 21293372
esv4730 CNV loss 18987735
esv5748 OTHER inversion 19470904
esv6930 CNV loss 19470904
nsv1044844 CNV loss 25217958
nsv1052620 CNV gain 25217958
nsv1069849 CNV deletion 25765185
nsv1069850 CNV deletion 25765185
nsv1116514 OTHER inversion 24896259
nsv1131177 CNV deletion 24896259
nsv1131178 CNV deletion 24896259
nsv1138353 CNV deletion 24896259
nsv1143777 CNV deletion 24896259
nsv437798 CNV loss 16327808
nsv456789 CNV gain 19166990
nsv456790 CNV loss 19166990
nsv471235 CNV gain 18288195
nsv507771 OTHER sequence alteration 20534489
nsv512390 CNV loss 21212237
nsv513427 CNV insertion 21212237
nsv516347 CNV loss 19592680
nsv568920 CNV gain 21841781
nsv568921 CNV gain 21841781
nsv568922 CNV loss 21841781
nsv568923 CNV loss 21841781
nsv568924 CNV loss 21841781
nsv94884 CNV deletion 16902084
nsv957966 CNV deletion 24416366

Variation tolerance for AVEN Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.97; 74.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AVEN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for AVEN Gene

MalaCards: The human disease database

(3) MalaCards diseases for AVEN Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schizoid personality disorder
alzheimer disease mitochondrial
  • alzheimer disease, susceptibility to, mitochondrial
chromosome 15q13.3 deletion syndrome
  • chromosome 15q13.3 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AVEN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AVEN

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AVEN: view

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

Publications for AVEN Gene

  1. Aven, a novel inhibitor of caspase activation, binds Bcl-xL and Apaf-1. (PMID: 10949025) Chau BN … Hardwick JM (Molecular cell 2000) 2 3 4
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  5. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) Ruaño G … Wu AH (Pharmacogenomics 2010) 3 41

Products for AVEN Gene

Sources for AVEN Gene