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Aliases for AVEN Gene

Aliases for AVEN Gene

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

External Ids for AVEN Gene

Previous GeneCards Identifiers for AVEN Gene

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

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 for AVEN Gene

  • Protects against apoptosis mediated by Apaf-1.

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

Genomics for AVEN Gene

Regulatory Elements for AVEN Gene

Enhancers for AVEN 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around AVEN on UCSC Golden Path with GeneCards custom track

Genomic Location for AVEN Gene

Chromosome:
15
Start:
33,866,227 bp from pter
End:
34,074,458 bp from pter
Size:
208,232 bases
Orientation:
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:
    Q9NQS1-AVEN_HUMAN
    Recommended name:
    Cell death regulator Aven
    Protein Accession:
    Q9NQS1

    Protein attributes for AVEN Gene

    Size:
    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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AVEN (AVEN)
  • Abcam antibodies for AVEN

No data available for DME Specific Peptides for AVEN Gene

Domains & Families for AVEN Gene

Protein Domains for AVEN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AVEN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families 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.

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:

Animal Model Products

CRISPR Products

miRNA for AVEN Gene

miRTarBase miRNAs that target AVEN

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for AVEN Gene COMPARTMENTS Subcellular localization image for AVEN gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AVEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 10949025
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IDA 10949025
genes like me logo Genes that share ontologies with AVEN: view

Pathways & Interactions for AVEN Gene

SuperPathways for AVEN Gene

Superpath 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: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

Unigene Clusters for AVEN Gene

Apoptosis, caspase activation inhibitor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for AVEN Gene

GeneLoc Exon Structure for
AVEN
ECgene alternative splicing isoforms for
AVEN

Expression for AVEN Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for AVEN Gene



NURSA nuclear receptor signaling pathways regulating expression of AVEN Gene:

AVEN

SOURCE GeneReport for Unigene cluster for AVEN Gene:

Hs.555966

mRNA Expression by UniProt/SwissProt for AVEN Gene:

Q9NQS1-AVEN_HUMAN
Tissue specificity: Highly expressed in testis, ovary, thymus, prostate, spleen, small intestine, colon, heart, skeletal muscle, liver, kidney and pancreas.
genes like me logo Genes that share expression patterns with AVEN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia AVEN 34
  • 84.44 (n)
  • 77.54 (a)
AVEN 35
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AVEN 34
  • 83.27 (n)
  • 79.25 (a)
mouse
(Mus musculus)
Mammalia Aven 34
  • 80.51 (n)
  • 73.65 (a)
Aven 16
Aven 35
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AVEN 34
  • 99.3 (n)
  • 98.95 (a)
AVEN 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aven 34
  • 78.16 (n)
  • 69.42 (a)
oppossum
(Monodelphis domestica)
Mammalia AVEN 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AVEN 35
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves AVEN 34
  • 59.15 (n)
  • 53.01 (a)
gga-mir-6683 35
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AVEN 35
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii aven 35
  • 37 (a)
OneToOne
Species where no ortholog for AVEN 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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

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

Paralogs for AVEN Gene

No data available for Paralogs for AVEN Gene

Variants for AVEN Gene

Sequence variations from dbSNP and Humsavar for AVEN Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs2241647 - 33,867,785(-) GATGC(A/G)GTTAA reference, missense
rs2576294 -- 34,070,332(+) CTGTA(A/G)ATAAC intron-variant
rs2576295 -- 34,070,493(+) ACCGA(A/G)AAAAA intron-variant
rs2576300 -- 34,067,488(-) ATTTT(C/T)TTATT intron-variant, upstream-variant-2KB
rs2576301 -- 34,067,346(-) AGATT(C/T)TAATC intron-variant, upstream-variant-2KB

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)

Relevant External Links for AVEN Gene

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

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
  • ad-mt
chromosome 15q13.3 microdeletion syndrome
  • chromosome 15q13.3 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AVEN in MalaCards View complete list of genes associated with diseases

Relevant External Links for AVEN

Genetic Association Database (GAD)
AVEN
Human Genome Epidemiology (HuGE) Navigator
AVEN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AVEN
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 B.N. … Hardwick J.M. (Mol. Cell 2000) 2 3 4 65
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  3. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) RuaA+o G. … Wu A.H. (Pharmacogenomics 2010) 3 46 65
  4. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 65
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 65

Products for AVEN Gene

Sources for AVEN Gene

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