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VDAC3 Gene

protein-coding   GIFtS: 59
GCID: GC08P042249

Voltage-Dependent Anion Channel 3

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Voltage-Dependent Anion Channel 31 2
Outer Mitochondrial Membrane Protein Porin 32 3
VDAC-32 3
HD-VDAC32
Voltage-Dependent Anion-Selective Channel Protein 32
hVDAC33

External Ids:    HGNC: 126741   Entrez Gene: 74192   Ensembl: ENSG000000786687   OMIM: 6100295   UniProtKB: Q9Y2773   
ORGUL members:         

Export aliases for VDAC3 gene to outside databases

Previous GC identifers: GC08P041661 GC08P042274 GC08P041990 GC08P042266 GC08P042368 GC08P040772


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VDAC3 Gene:
This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs
are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other
small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in
translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability
transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively
transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq, Oct 2011)

GeneCards Summary for VDAC3 Gene:
VDAC3 (voltage-dependent anion channel 3) is a protein-coding gene. Diseases associated with VDAC3 include visceral leishmaniasis, and leishmaniasis. GO annotations related to this gene include voltage-gated anion channel activity and nucleotide binding. An important paralog of this gene is VDAC2.

UniProtKB/Swiss-Prot: VDAC3_HUMAN, Q9Y277
Function: Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic
molecules (By similarity)

Gene Wiki entry for VDAC3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the VDAC3 gene promoter:
         Sox5   RFX1   NF-1/L   NF-1   NRSF form 1   FOXD3   Lmo2   NRSF form 2   AREB6   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVDAC3 promoter sequence
   Search Chromatin IP Primers for VDAC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VDAC3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11.2   Ensembl cytogenetic band:  8p11.21   HGNC cytogenetic band: 8p11.21

VDAC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VDAC3 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P042249:  view genomic region     (about GC identifiers)

Start:
42,249,142 bp from pter      End:
42,263,415 bp from pter
Size:
14,274 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VDAC3_HUMAN, Q9Y277 (See protein sequence)
Recommended Name: Voltage-dependent anion-selective channel protein 3  
Size: 283 amino acids; 30659 Da
Secondary accessions: Q9UIS0
Alternative splicing: 2 isoforms:  Q9Y277-1   Q9Y277-2   

Explore the universe of human proteins at neXtProt for VDAC3: NX_Q9Y277

Explore proteomics data for VDAC3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys20, Lys266
  • Modification sites at PhosphoSitePlus

  • See VDAC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129166.1  NP_005653.3  

    ENSEMBL proteins: 
     ENSP00000428977   ENSP00000428519   ENSP00000429006   ENSP00000428029   ENSP00000430373  
     ENSP00000428845   ENSP00000022615   ENSP00000430908   ENSP00000442811  

    VDAC3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for VDAC3
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    Novus Biologicals VDAC3 Protein
    Novus Biologicals VDAC3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for VDAC3

    VDAC3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for VDAC3
    Cloud-Clone Corp. Antibodies for VDAC3
    ThermoFisher Antibody for VDAC3
    LSBio Antibodies in human, mouse, rat for VDAC3

    VDAC3 Assay Products:

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    Cloud-Clone Corp. ELISAs for VDAC3
    Cloud-Clone Corp. CLIAs for VDAC3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    VDAC: Voltage-dependent anion channels

    3 InterPro protein domains:
     IPR027246 Porin_Euk/Tom40
     IPR001925 Porin_Euk
     IPR023614 Porin_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y277

    ProtoNet protein and cluster: Q9Y277

    1 Blocks protein domain: IPB001925 Porin

    UniProtKB/Swiss-Prot: VDAC3_HUMAN, Q9Y277
    Domain: Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands (By similarity)
    Similarity: Belongs to the eukaryotic mitochondrial porin family


    VDAC3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VDAC3_HUMAN, Q9Y277
    Function: Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic
    molecules (By similarity)

         Genatlas biochemistry entry for VDAC3:
    voltage-dependent anion channel 3,mitochondrial outer membrane,porin 3,allowing diffusion of small hydrophilic
    molecules,homolog to murine Vdac3,previously mapped to chromosome 12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0008308voltage-gated anion channel activity TAS9781040
    GO:0015288porin activity IEA--
         
    VDAC3 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Vdac3):
     behavior/neurological  cellular  growth/size/body  mortality/aging  muscle 
     nervous system  reproductive system  respiratory system 

    VDAC3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Vdac3tm1Wjc for VDAC3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VDAC3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VDAC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VDAC3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VDAC3

    miRNA
    Products:
        
    miRTarBase miRNAs that target VDAC3:
    hsa-mir-186-3p (MIRT038613), hsa-mir-196a-5p (MIRT048181)

    Block miRNA regulation of human, mouse, rat VDAC3 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate VDAC3:
    hsa-miR-3926 hsa-miR-513a-3p hsa-miR-1286
    SwitchGear 3'UTR luciferase reporter plasmidVDAC3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for VDAC3
    Predesigned siRNA for gene silencing in human, mouse, rat VDAC3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for VDAC3

    Clone
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    OriGene clones in human, mouse for VDAC3 (see all 12)
    OriGene ORF clones in mouse, rat for VDAC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): VDAC3 (NM_001135694)
    Sino Biological Human cDNA Clone for VDAC3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VDAC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VDAC3

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for VDAC3
    Browse ESI BIO Cell Lines and PureStem Progenitors for VDAC3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VDAC3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VDAC3_HUMAN, Q9Y277: Mitochondrion outer membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005741mitochondrial outer membrane IEA--
    GO:0046930pore complex IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    VDAC3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for VDAC3 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Cellular Apoptosis Pathway0.85
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57
    Huntington's disease0.45
    3Toll-like receptor signaling pathway
    Hepatitis B0.31
    4Viral carcinogenesis
    Viral carcinogenesis
    5HTLV-I infection
    HTLV-I infection

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for VDAC3
        Mitochondrial Apoptosis
    Cellular Apoptosis Pathway



    Selected Kegg Pathways  (Kegg details for VDAC3) (see all 6):
        Calcium signaling pathway
    Parkinson's disease
    Huntington's disease
    Hepatitis B
    HTLV-I infection


    VDAC3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including VDAC3: 
              Parkinson's Disease in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for VDAC3

    Selected Interacting proteins for VDAC3 (Q9Y2772, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 450)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015853adenine transport TAS9781040
    GO:0055085transmembrane transport ----

    VDAC3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VDAC3

    1 DrugBank Compound for VDAC3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dihydroxyaluminium-- 13682-92-3targetinhibitor1694685 2469483



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for VDAC3 gene (2 alternative transcripts): 
    NM_001135694.2  NM_005662.6  

    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000518563 ENST00000520115 ENST00000522069 ENST00000522572 ENST00000519072
    ENST00000521348(uc010lxk.3) ENST00000518495 ENST00000521158 ENST00000022615(uc022aul.1)
    ENST00000522010 ENST00000522178 ENST00000524291 ENST00000392935(uc003xpc.3 uc011lct.2)


    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat VDAC3 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate VDAC3:
    hsa-miR-3926 hsa-miR-513a-3p hsa-miR-1286
    SwitchGear 3'UTR luciferase reporter plasmidVDAC3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for VDAC3
    Predesigned siRNA for gene silencing in human, mouse, rat VDAC3
    Clone
    Products:
         
    OriGene clones in human, mouse for VDAC3 (see all 12)
    OriGene ORF clones in mouse, rat for VDAC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): VDAC3 (NM_001135694)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VDAC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VDAC3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for VDAC3
    OriGene qSTAR qPCR primer pairs in human, mouse for VDAC3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VDAC3
      QuantiTect SYBR Green Assays in human, mouse, rat VDAC3
      QuantiFast Probe-based Assays in human, mouse, rat VDAC3

    Selected AceView cDNA sequences (see all 485):

    BM555586 CR624748 BX449977 BM542688 CR590872 AI127292 AW081787 BM763918 
    AW337218 BU629029 BU189602 T39787 BF432038 BG032544 AI424551 CR612232 
    CR618206 BU683878 BM702809 AI289054 BM848648 BQ216812 BE783137 AL138286 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    VDAC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTTGTAAT
    VDAC3 Expression
    About this image


    VDAC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    VDAC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VDAC3 Protein Expression

    UniProtKB/Swiss-Prot: VDAC3_HUMAN, Q9Y277
    Tissue specificity: Widely expressed. Highest in testis

        Pathway & Disease-focused RT2 Profiler PCR Array including VDAC3: 
              Parkinson's Disease in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for VDAC3
    OriGene qSTAR qPCR primer pairs in human, mouse for VDAC3
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    QuantiFast Probe-based Assays in human, mouse, rat VDAC3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VDAC3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for VDAC3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vdac31 , 5 voltage-dependent anion channel 31, 5 91.76(n)1
    98.23(a)1
      8 (11.42 cM)5
    223351  NM_011696.21  NP_035826.11 
     225770755 
    chicken
    (Gallus gallus)
    Aves VDAC31 voltage-dependent anion channel 3 77.27(n)
    81.63(a)
      426793  XM_004947619.1  XP_004947676.1 
    lizard
    (Anolis carolinensis)
    Reptilia VDAC36
    voltage-dependent anion channel 3
    77(a)
    1 ↔ 1
    GL343545.1(368343-377001)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.25092 Xenopus laevis transcribed sequence with moderate similarity more 76.83(n)    BU901745.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vdac31 voltage-dependent anion channel 3 69.27(n)
    74.47(a)
      406529  NM_213246.1  NP_998411.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta porin3 mitochondrial transport
    voltage-dependent ion-selective
    more
    58(a)
    (best of 2)
      32B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea R05G6.73 Channel Protein 39(a)   IV(7506758-7507930)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POR1(YNL055C)4 Mitochondrial porin (voltage-dependent anion channel), more   --   14(518845-517994) 855669  NP_014343.1 


    ENSEMBL Gene Tree for VDAC3 (if available)
    TreeFam Gene Tree for VDAC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VDAC3 gene
    VDAC22  VDAC12  
    2 SIMAP similar genes for VDAC3 using alignment to 8 protein entries:     VDAC3_HUMAN (see all proteins):
    VDAC2    VDAC1

    VDAC3 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for VDAC3
    PGOHUM00000248265 PGOHUM00000261313 PGOHUM00000233453


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for VDAC3 (see all 293)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs285105681,2
    C,F,H--42247345(+) TTCTAA/GATACT 2 -- us2k112Minor allele frequency- G:0.29NS NA WA CSA 1190
    rs1863628311,2
    --42247376(+) TCAAGA/GCCATT 2 -- us2k10--------
    rs1900848571,2
    --42247477(+) CGATCC/TTGGCT 2 -- us2k10--------
    rs1112798191,2
    C--42247512(+) TCAAGT/-TGATT 2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1831820321,2
    --42247536(+) CTCCCC/TAGTAG 2 -- us2k10--------
    rs1875104541,2
    --42247661(+) CCCCCC/TTCGGC 2 -- us2k10--------
    rs1165572381,2
    C,F--42247838(+) ATTTAG/AGATCA 2 -- us2k11Minor allele frequency- A:0.07WA 118
    rs726414911,2
    C,F--42247862(+) GTGCCA/GTATCT 2 -- us2k11Minor allele frequency- G:0.03NA 120
    rs1926201451,2
    C--42248013(+) AGTAGC/GTGGGA 2 -- us2k10--------
    rs736317311,2
    C,F--42248154(+) GGGATT/CACAGG 2 -- us2k14Minor allele frequency- C:0.32WA CSA 124

    HapMap Linkage Disequilibrium report for VDAC3 (42249142 - 42263415 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for VDAC3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831301CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VDAC3
    DNA2.0 Custom Variant and Variant Library Synthesis for VDAC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610029    OMIM disorders: --

    10 diseases for VDAC3:    
    About MalaCards
    visceral leishmaniasis    leishmaniasis    huntington's disease    infertility
    parkinson's disease    hepatitis b    hepatitis    endotheliitis
    cerebritis    thyroiditis


    VDAC3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): VDAC3
    Human Genome Epidemiology (HuGE) Navigator: VDAC3 (1 document)

    Export disorders for VDAC3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for VDAC3 gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with VDAC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning. (PubMed id 9653160)1, 2, 3 Mao M.... Chen Z. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. Isolation of a novel human voltage-dependent anion channel gene. (PubMed id 9781040)1, 2, 3 Rahmani Z.... Siddiqui A. (Eur. J. Hum. Genet. 1998)
    3. The tissue-specific, alternatively spliced single ATG exon of the type 3 voltage-dependent anion channel gene does not create a truncated protein isoform in vivo. (PubMed id 10833333)1, 2, 9 Decker W.K. and Craigen W.J. (Mol. Genet. Metab. 2000)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis. (PubMed id 10501981)1, 2 Decker W.K.... Craigen W.J. (Mamm. Genome 1999)
    7. The murine voltage-dependent anion channel gene family. Conserved structure and function. (PubMed id 9228078)1, 9 Sampson M.J....Craigen W.J. (J. Biol. Chem. 1997)
    8. Human spermatozoa contain multiple targets for protein S-nitrosylation: an alternative mechanism of the modulation of sperm function by nitric oxide? (PubMed id 17683036)1, 9 LefiA"vre L....Barratt C.L. (Proteomics 2007)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. VDAC3 and Mps1 negatively regulate ciliogenesis. (PubMed id 23388454)1 Majumder S. and Fisk H.A. (Cell Cycle 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7419 HGNC: 12674 AceView: VDAC3 Ensembl:ENSG00000078668 euGenes: HUgn7419
    ECgene: VDAC3 Kegg: 7419 H-InvDB: VDAC3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for VDAC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for VDAC3 gene:
    Search GeneIP for patents involving VDAC3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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