Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AVEN Gene

Aliases for AVEN Gene

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

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

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

Proteomics data for AVEN Gene at MOPED

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)

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.

Phenotypes for AVEN Gene

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

Animal Models for AVEN Gene

MGI Knock Outs for AVEN:

Animal Model Products

miRNA for AVEN Gene

miRTarBase miRNAs that target AVEN

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
genes like me logo Genes that share ontologies with AVEN: view

Pathways & Interactions for AVEN Gene

SuperPathways for AVEN Gene

No Data Available

Gene Ontology (GO) - Biological Process for AVEN Gene

None

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

Drugs & Compounds for AVEN Gene

(1) Additional Compounds for AVEN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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, MOPED, and MaxQB for AVEN Gene



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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia AVEN 35
  • 99.3 (n)
  • 98.95 (a)
AVEN 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AVEN 36
  • 80 (a)
OneToOne
AVEN 35
  • 84.44 (n)
  • 77.54 (a)
dog
(Canis familiaris)
Mammalia AVEN 35
  • 83.27 (n)
  • 79.25 (a)
mouse
(Mus musculus)
Mammalia Aven 16
Aven 36
  • 74 (a)
OneToOne
Aven 35
  • 80.51 (n)
  • 73.65 (a)
oppossum
(Monodelphis domestica)
Mammalia AVEN 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AVEN 36
  • 39 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aven 35
  • 78.16 (n)
  • 69.42 (a)
chicken
(Gallus gallus)
Aves AVEN 35
  • 59.15 (n)
  • 53.01 (a)
gga-mir-6683 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AVEN 36
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii aven 36
  • 37 (a)
OneToOne
Species with no ortholog for AVEN:
  • 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
rs552813 -- 33,922,504(+) GATCA(C/T)GACTC intron-variant
rs647051 -- 33,937,080(-) gatct(C/T)ggctc intron-variant
rs554605 -- 33,893,981(+) GTCTA(A/G)CTCTG intron-variant
rs656374 -- 33,921,375(+) GCAAA(C/T)TGAGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv33337 CNV Gain+Loss 17666407
nsv456789 CNV Gain 19166990
nsv471235 CNV Gain 18288195
nsv903984 CNV Loss 21882294
nsv437798 CNV Loss 16327808
nsv507771 CNV Insertion 20534489
esv5748 OTHER Inversion 19470904
esv2648750 CNV Insertion 19546169
esv1207147 CNV Insertion 17803354
nsv513427 CNV Insertion 21212237
nsv512390 CNV Loss 21212237
esv4730 CNV Deletion 18987735
esv2749546 CNV Deletion 23290073
esv2678803 CNV Deletion 23128226
nsv94884 CNV Loss 16902084
esv24590 CNV Loss 19812545
esv6930 CNV Loss 19470904
esv27001 CNV Gain 19812545
esv2661499 CNV Deletion 23128226
nsv456790 CNV Loss 19166990
dgv310n27 CNV Loss 19166990
nsv516347 CNV Loss 19592680
nsv903985 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
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
  • 15q13.3 microdeletion 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 67
  2. Aven-mediated checkpoint kinase control regulates proliferation and resistance to chemotherapy in conventional osteosarcoma. (PMID: 25757065) Baranski Z. … Danen E.H. (J. Pathol. 2015) 3
  3. Overexpression of the anti-apoptotic protein AVEN contributes to increased malignancy in hematopoietic neoplasms. (PMID: 22751129) EiA9mann M. … ZAPrnig M. (Oncogene 2013) 3
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  5. The Apaf-1-binding protein Aven is cleaved by Cathepsin D to unleash its anti-apoptotic potential. (PMID: 22388353) Melzer I.M. … ZAPrnig M. (Cell Death Differ. 2012) 3

Products for AVEN Gene

Sources for AVEN Gene

Back to Top

Content