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    AVEN apoptosis and caspase activation inhibitor [ Homo sapiens (human) ]

    Gene ID: 57099, updated on 27-Nov-2024

    Summary

    Official Symbol
    AVENprovided by HGNC
    Official Full Name
    apoptosis and caspase activation inhibitorprovided by HGNC
    Primary source
    HGNC:HGNC:13509
    See related
    Ensembl:ENSG00000169857 MIM:605265; AllianceGenome:HGNC:13509
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PDCD12
    Summary
    Involved in negative regulation of apoptotic process. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 1.9), placenta (RPKM 1.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AVEN in Genome Data Viewer
    Location:
    15q14
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (33851781..34075325, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (31663872..31837383, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (34158428..34331405, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33603389-33603900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33603901-33604410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6271 Neighboring gene NANOG hESC enhancer GRCh37_chr15:33620309-33620820 Neighboring gene RYR3 divergent transcript Neighboring gene ryanodine receptor 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:33837506-33838705 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:33851407-33852197 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:33904937-33905438 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:33924098-33924317 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:34012814-34014013 Neighboring gene NANOG hESC enhancer GRCh37_chr15:34030252-34030792 Neighboring gene complement C1q binding protein pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:34050593-34051255 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34145183-34146382 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34150522-34151721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:34208100-34208650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34277417-34277940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34280047-34280546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:34314668-34315168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:34315169-34315669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6274 Neighboring gene cholinergic receptor muscarinic 5 Neighboring gene MPRA-validated peak2290 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34393207-34394064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9174 Neighboring gene ribosomal protein L32 pseudogene 2 Neighboring gene piggyBac transposable element derived 4 Neighboring gene ER membrane protein complex subunit 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of G2/M transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cell death regulator Aven
    Names
    apoptosis, caspase activation inhibitor
    programmed cell death 12

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020371.3NP_065104.1  cell death regulator Aven

      See identical proteins and their annotated locations for NP_065104.1

      Status: VALIDATED

      Source sequence(s)
      AC069045, BC010488, BC063533, BU855198
      Consensus CDS
      CCDS10030.1
      UniProtKB/Swiss-Prot
      Q9NQS1
      Related
      ENSP00000306822.3, ENST00000306730.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      33851781..34075325 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432882.1XP_047288838.1  cell death regulator Aven isoform X1

    2. XM_011521818.3XP_011520120.1  cell death regulator Aven isoform X1

    3. XM_024449999.2XP_024305767.1  cell death regulator Aven isoform X2

    4. XM_011521820.1XP_011520122.1  cell death regulator Aven isoform X3

    RNA

    1. XR_007064480.1 RNA Sequence

    2. XR_007064476.1 RNA Sequence

    3. XR_002957667.2 RNA Sequence

    4. XR_007064478.1 RNA Sequence

    5. XR_007064477.1 RNA Sequence

    6. XR_007064479.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      31663872..31837383 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)