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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VDAC2 Gene

protein-coding   GIFtS: 66
GCID: GC10P076969

Voltage-Dependent Anion Channel 2

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3.2

Aliases
Voltage-Dependent Anion Channel 21 2
Outer Mitochondrial Membrane Protein Porin 22 3
POR2
Voltage-Dependent Anion-Selective Channel Protein 22
VDAC-23
hVDAC23

External Ids:    HGNC: 126721   Entrez Gene: 74172   Ensembl: ENSG000001656377   OMIM: 1932455   UniProtKB: P458803   
ORGUL members:    fRNAdb10:FR230992 FR334906      
NONCODE14:n381469 n340076 n410772 n410771 n409320 see all 8      
RNAdb15:EVF30796 EVF18270    

Export aliases for VDAC2 gene to outside databases

Previous GC identifers: GC10P075924 GC10P076073 GC10P076863 GC10P076315 GC10P076276 GC10P076640 GC10P070968


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for VDAC2 Gene:
This gene encodes a member of the voltage-dependent anion channel pore-forming family of proteins that are
considered the main pathway for metabolite diffusion across the mitochondrial outer membrane. The encoded protein
is also thought to be involved in the mitochondrial apoptotic pathway via regulation of BCL2-antagonist/killer 1
protein activity. Pseudogenes have been identified on chromosomes 1, 2, 12 and 21, and alternative splicing
results in multiple transcript variants. (provided by RefSeq, May 2010)

GeneCards Summary for VDAC2 Gene: 
VDAC2 (voltage-dependent anion channel 2) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with VDAC2 include temporal lobe epilepsy, and eosinophilia, and among its related super-pathways are Mitochondrial Apoptosis and Parkinson's disease. GO annotations related to this gene include porin activity and nucleotide binding. An important paralog of this gene is VDAC1.

UniProtKB/Swiss-Prot: VDAC2_HUMAN, P45880
Function: Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic
molecules. The channel adopts an open conformation at low or zero membrane potential and a closed conformation at
potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is
cation-selective

Gene Wiki entry for VDAC2 Gene

fRNAdb sequence ontology for VDAC2:
nc_conserved_region - Non-coding region of sequence similarity by descent from a common ancestor.

View fRNAdb secondary structures for VDAC2

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VDAC2 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   Roaz   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVDAC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for VDAC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VDAC2


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

Entrez Gene cytogenetic band: 10q22   Ensembl cytogenetic band:  10q22.2   HGNC cytogenetic band: 10q22

VDAC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VDAC2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P076969:  view genomic region     (about GC identifiers)

Start:
76,969,912 bp from pter      End:
76,991,206 bp from pter
Size:
21,295 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for VDAC2

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VDAC2_HUMAN, P45880 (See protein sequence)
Recommended Name: Voltage-dependent anion-selective channel protein 2  
Size: 294 amino acids; 31567 Da
Subunit: Interacts with hexokinases (By similarity)
Subcellular location: Mitochondrion outer membrane
Sequence caution: Sequence=CAH73106.1; Type=Erroneous gene model prediction; Sequence=CAI40910.1; Type=Erroneous
gene model prediction;
Secondary accessions: Q5VWK1 Q5VWK3 Q6IB40 Q7L3J5 Q9BWK8 Q9Y5I6
Alternative splicing: 3 isoforms:  P45880-3   P45880-1   P45880-2   (Ref.1 (AAA60145) sequence differs from that shown due to a frameshift in position 277)

Explore the universe of human proteins at neXtProt for VDAC2: NX_P45880

Explore proteomics data for VDAC2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P45880

  • VDAC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VDAC2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001171712.1  NP_001171752.1  NP_003366.2  

    ENSEMBL proteins: 
     ENSP00000298468   ENSP00000344876   ENSP00000361686   ENSP00000361635   ENSP00000401492  
     ENSP00000389551   ENSP00000443092   ENSP00000445901  

    Human Recombinant Protein Products for VDAC2: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for VDAC2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0042645mitochondrial nucleoid IDA18063578
    GO:0046930pore complex IEA--

    VDAC2 for ontologies           About GeneDecksing



    VDAC2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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 P45880

    ProtoNet protein and cluster: P45880

    1 Blocks protein domain: IPB001925 Porin

    UniProtKB/Swiss-Prot: VDAC2_HUMAN, P45880
    Domain: Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands (By similarity)
    Similarity: Belongs to the eukaryotic mitochondrial porin family


    VDAC2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VDAC2_HUMAN, P45880
    Function: Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic
    molecules. The channel adopts an open conformation at low or zero membrane potential and a closed conformation at
    potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is
    cation-selective

         Genatlas biochemistry entry for VDAC2:
    voltage-dependent anion channel 2,mitochondrial outer membrane,porin 2,allowing diffusion of small hydrophilic
    molecules

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0005515protein binding IPI15082785
    GO:0008308voltage-gated anion channel activity TAS8420959
    GO:0015288porin activity IEA--
         
    VDAC2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for VDAC2:
     Decreased viability after Chla  Increased viability after born  Small cells 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidVDAC2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for VDAC2 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 disease0.61
    Huntington's disease0.47
    3Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins1.00
    4Cytoskeletal Signaling
    Cytoskeletal Signaling
    5Calcium signaling pathway
    Calcium signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for VDAC2
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for VDAC2
        Mitochondrial Apoptosis
    Cellular Apoptosis Pathway

    1 Cell Signaling Technology (CST) Pathway for VDAC2
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for VDAC2
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins


    4         Kegg Pathways  (Kegg details for VDAC2):
        Calcium signaling pathway
    Parkinson's disease
    Huntington's disease
    HTLV-I infection


    VDAC2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VDAC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/50 Interacting proteins for VDAC2 (P458801, 2, 3 ENSP000003616864) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERINC3Q135303, ENSP000002551754I2D: score=2 STRING: ENSP00000255175
    ACTBP607093, ENSP000003499604I2D: score=1 STRING: ENSP00000349960
    BAK1Q166113, ENSP000003635914I2D: score=4 STRING: ENSP00000363591
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CYCSP999993, ENSP000003077864I2D: score=3 STRING: ENSP00000307786
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006820anion transport TAS8420959
    GO:0032272negative regulation of protein polymerization IEA--
    GO:0055085transmembrane transport ----
    GO:2001243negative regulation of intrinsic apoptotic signaling pathway IEA--

    VDAC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    VDAC2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VDAC2

    1 DrugBank Compound for VDAC2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dihydroxyaluminium-- 13682-92-3targetinhibitor1694685 2469483

    1 Novoseek inferred chemical compound relationship for VDAC2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 29.4 1 17085086 (1)

    Search CenterWatch for drugs/clinical trials and news about VDAC2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    2 fRNAdb Secondary structures:


    REFSEQ mRNAs for VDAC2 gene (3 alternative transcripts): 
    NM_001184783.1  NM_001184823.1  NM_003375.3  

    Unigene Cluster for VDAC2:

    Voltage-dependent anion channel 2
    Hs.355927  [show with all ESTs]
    Unigene Representative Sequence: NM_001184783
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298468 ENST00000344036 ENST00000332211(uc001jxa.3 uc001jwz.3 uc010qle.2)
    ENST00000472137 ENST00000470745 ENST00000475142 ENST00000481876 ENST00000313132
    ENST00000498394 ENST00000468285 ENST00000447677 ENST00000413289 ENST00000460044
    ENST00000543351(uc021ptp.1) ENST00000535553(uc010qld.2)

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    Additional mRNA sequence: 

    AK296635.1 AK315919.1 BC000165.2 BC012883.1 BC072407.1 CR456964.1 L06328.1 L08666.1 
    NR_033675.1 

    24/35 DOTS entries (see all 35):

    DT.99984251  DT.449553  DT.100681911  DT.95082788  DT.100681925  DT.121011673  DT.100681923  DT.92046421 
    DT.86669435  DT.100681916  DT.91773517  DT.100681910  DT.100681914  DT.121254514  DT.91773516  DT.97785668 
    DT.97855717  DT.121011876  DT.121254484  DT.100681918  DT.121254530  DT.86840503  DT.100681905  DT.100858359 

    24/898 AceView cDNA sequences (see all 898):

    BM561387 BM851292 AA743636 BM670037 BM470757 N54576 CB123913 BM272984 
    BM673615 BM923976 BM848958 CN484949 CR621927 AI874300 CD369051 BU684678 
    AA805822 BG110953 AW192936 CF552446 BQ678826 BQ226034 AI216313 CD108952 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for VDAC2 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^
    SP1:                                            -           -                             -     -     -                                               -         
    SP2:                                            -           -     -                       -     -     -                                               -         
    SP3:        -     -     -     -     -     -     -           -     -                       -     -     -                                                         
    SP4:              -     -     -     -     -     -           -     -                       -     -     -                                                         
    SP5:                                            -           -     -                                   -                                                         

    ExUns: 14a · 14b · 14c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for VDAC2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VDAC2 expression in normal human tissues (normalized intensities)      VDAC2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAAATTATG
    VDAC2 Expression
    About this image


    VDAC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/44 selected tissues (see all 44) fully expand
     
     Brain (Nervous System)    fully expand to see all 22 entries
             Thalamus
             Septum   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             heart muscle ; myocytes   
             heart/atrium   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn   

    See VDAC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VDAC2

    SOURCE GeneReport for Unigene cluster: Hs.355927

    UniProtKB/Swiss-Prot: VDAC2_HUMAN, P45880
    Tissue specificity: Expressed in all tissues examined

        SABiosciences Expression via Pathway-Focused PCR Array including VDAC2: 
              Drug Transporters in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for VDAC2 gene from 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vdac21 , 5 voltage-dependent anion channel 21, 5 92.33(n)1
    96.86(a)1
      14 (11.91 cM)5
    223341  NM_011695.21  NP_035825.11 
     218312695 
    chicken
    (Gallus gallus)
    Aves VDAC21 voltage-dependent anion channel 2 84.69(n)
    89.75(a)
      395498  NM_204741.1  NP_990072.1 
    lizard
    (Anolis carolinensis)
    Reptilia VDAC26
    voltage-dependent anion channel 2
    83(a)
    1 ↔ 1
    GL343196.1(2699019-2712106)
    zebrafish
    (Danio rerio)
    Actinopterygii vdac21 voltage-dependent anion channel 2 75.74(n)
    83.04(a)
      322126  NM_199585.2  NP_955879.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta porin1 , 3 mitochondrial transport
    voltage-dependent ion-selective
    more3
    CG6647-PA1
    62(a)
    (best of 2)3
    60.24(n)1
    62.14(a)1
      32B13
    345001  NM_001038810.11  NP_001033899.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R05G6.71 , 3 Channel Protein3
    Protein R05G6.71
    41(a)3
    51.81(n)1
    42.03(a)1
      IV(7506758-7507930)3
    1775241  NM_068810.41  NP_501211.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POR16
    POR26
    Mitochondrial porin (voltage-dependent anion chann...
    Putative mitochondrial porin (voltage-dependent an...
    24(a)
    20(a)
    many ↔ many
    many ↔ many
    XIV(517994-518845)
    IX(149143-149988)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VDAC31 mitochondrial outer membrane protein porin 2 43.82(n)
    28.46(a)
      831361  NM_001203385.1  NP_001190314.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05882001 hypothetical protein 43.41(n)
    29.48(a)
      4327665  NM_001049968.1  NP_001043433.1 


    ENSEMBL Gene Tree for VDAC2 (if available)
    TreeFam Gene Tree for VDAC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VDAC2 gene
    VDAC12  VDAC32  
    2 SIMAP similar genes for VDAC2 using alignment to 5 protein entries:     VDAC2_HUMAN (see all proteins):
    VDAC1    VDAC3

    VDAC2 for paralogs           About GeneDecksing


    5/8 Pseudogenes.org Pseudogenes for VDAC2 (see all 8)
    PGOHUM00000239655 PGOHUM00000244159 PGOHUM00000244291 PGOHUM00000239038 PGOHUM00000240960


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/473 SNPs in VDAC2 are shown (see all 473)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0063804
    ----see VAR_0063802 A V mis40--------
    rs1438592911,2
    --76968003(+) GACTGA/GGTGTT 1 -- us2k10--------
    rs1921677071,2
    --76968089(+) ACATAA/CCAGAC 1 -- us2k10--------
    rs576127841,2
    C--76968278(+) ATCTT-/CCAGGC 1 -- us2k10--------
    rs1173437771,2
    C,F--76968368(+) TGAGCA/GGACAT 4 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1851216741,2
    --76968406(+) GGGAAA/GAGGCT 4 -- us2k10--------
    rs1904603381,2
    --76968510(+) GCTCAC/TACCTG 4 -- us2k10--------
    rs1932285261,2
    --76968688(+) AATGGC/TGTGAA 4 -- us2k10--------
    rs1854785601,2
    --76968783(+) AAAAGA/GAGAAA 4 -- us2k10--------
    rs741462981,2
    C,F--76968935(+) AGAATG/TTAGTT 4 -- us2k11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for VDAC2 (76969912 - 76991206 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for VDAC2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831913CNV Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 193245    OMIM disorders: --

    13 diseases for VDAC2:    About MalaCards
    temporal lobe epilepsy    eosinophilia    atopic dermatitis    down syndrome
    lateral sclerosis    amyotrophic lateral sclerosis    huntington's disease    dermatitis
    parkinson's disease    hypoxia    alzheimer's disease    endotheliitis
    neuronitis


    VDAC2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for VDAC2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 1 10998068 (1)

    Genetic Association Database (GAD): VDAC2
    Human Genome Epidemiology (HuGE) Navigator: VDAC2 (2 documents)

    Export disorders for VDAC2 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)
    About This Section

    PubMed articles for VDAC2 gene, integrated from 9 sources (see all 94):
    (articles sorted by number of sources associating them with VDAC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Subcellular localization of human voltage-dependent anion channel isoforms. (PubMed id 7539795)1, 2, 9 Yu W.H.... Forte M.A. (1995)
    2. Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel. (PubMed id 8420959)1, 2, 9 Blachly-Dyson E.... Forte M.A. (1993)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    7. 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. (2004)
    8. 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. (1999)
    9. Mapping of the human Voltage-Dependent Anion Channel isoforms 1 and 2 reconsidered. (PubMed id 10049775)1, 3 Messina A....De Pinto V. (1999)
    10. Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms. (PubMed id 7517385)1, 3 Blachly-Dyson E.... Forte M. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7417 HGNC: 12672 AceView: VDAC2 Ensembl:ENSG00000165637 euGenes: HUgn7417
    ECgene: VDAC2 Kegg: 7417 H-InvDB: VDAC2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for VDAC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for VDAC2 gene:
    Search GeneIP for patents involving VDAC2

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



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