Human Gene AVEN (uc001zhj.3) Description and Page Index
  Description: Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr15:34,158,428-34,331,303 Size: 172,876 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr15:34,158,814-34,331,247 Size: 172,434 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr15:34,158,428-34,331,303)mRNA (may differ from genome)Protein (362 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Cell death regulator Aven;
FUNCTION: Protects against apoptosis mediated by Apaf-1.
SUBUNIT: Binds Apaf-1, BCL-2 and BAD (Bcl-xl).
SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein. Note=Associated with intracellular membranes.
TISSUE SPECIFICITY: Highly expressed in testis, ovary, thymus, prostate, spleen, small intestine, colon, heart, skeletal muscle, liver, kidney and pancreas.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): AVEN
CDC HuGE Published Literature: AVEN
Positive Disease Associations: Body Fat Distribution , Body Weights and Measures , Hippocampus , Lipids , Mental Competency , Pancreatic Neoplasms , Triglycerides , Tumor Necrosis Factor-alpha
Related Studies:
  1. Body Fat Distribution
    , , . [PubMed 0]
  2. Body Weights and Measures
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  3. Hippocampus
    Sudha Seshadri et al. BMC medical genetics 2007, Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study., BMC medical genetics. [PubMed 17903297]
    Our results suggest that genes associated with clinical neurological disease also have detectable effects on subclinical phenotypes. These hypothesis generating data illustrate the use of an unbiased approach to discover novel pathways that may be involved in brain aging, and could be used to replicate observations made in other studies.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: AVEN
Diseases sorted by gene-association score: schizoid personality disorder (3), alzheimer disease mitochondrial (2), chromosome 15q13.3 microdeletion syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.79 RPKM in Artery - Aorta
Total median expression: 327.23 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.1056-0.412 Picture PostScript Text
3' UTR -120.30386-0.312 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026187 - Aven

ModBase Predicted Comparative 3D Structure on Q9NQS1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006915 apoptotic process
GO:0043066 negative regulation of apoptotic process

Cellular Component:
GO:0005622 intracellular
GO:0012505 endomembrane system
GO:0016020 membrane

-  Descriptions from all associated GenBank mRNAs
  BC063533 - Homo sapiens apoptosis, caspase activation inhibitor, mRNA (cDNA clone MGC:74954 IMAGE:4425400), complete cds.
AF283508 - Homo sapiens cell death regulator aven mRNA, complete cds.
LF383714 - JP 2014500723-A/191217: Polycomb-Associated Non-Coding RNAs.
BC010488 - Homo sapiens apoptosis, caspase activation inhibitor, mRNA (cDNA clone MGC:16897 IMAGE:2900586), complete cds.
MA619291 - JP 2018138019-A/191217: Polycomb-Associated Non-Coding RNAs.
AK025888 - Homo sapiens cDNA: FLJ22235 fis, clone HRC02023.
JD159356 - Sequence 140380 from Patent EP1572962.
JD475001 - Sequence 456025 from Patent EP1572962.
JD161470 - Sequence 142494 from Patent EP1572962.
JD489864 - Sequence 470888 from Patent EP1572962.
LF348597 - JP 2014500723-A/156100: Polycomb-Associated Non-Coding RNAs.
MA584174 - JP 2018138019-A/156100: Polycomb-Associated Non-Coding RNAs.
LF348571 - JP 2014500723-A/156074: Polycomb-Associated Non-Coding RNAs.
MA584148 - JP 2018138019-A/156074: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: AVEN_HUMAN, NM_020371, NP_065104, Q9NQS1
UCSC ID: uc001zhj.3
RefSeq Accession: NM_020371
Protein: Q9NQS1 (aka AVEN_HUMAN)
CCDS: CCDS10030.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_020371.2
exon count: 6CDS single in 3' UTR: no RNA size: 1551
ORF size: 1089CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2260.00frame shift in genome: no % Coverage: 98.71
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.