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 identi... See more...

Aliases for VDAC2 Gene

Aliases for VDAC2 Gene

  • Voltage Dependent Anion Channel 2 2 3 5
  • Voltage-Dependent Anion-Selective Channel Protein 2 3 4
  • Outer Mitochondrial Membrane Protein Porin 2 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • VDAC-2 4
  • HVDAC2 4
  • VDAC2 5
  • POR 3

External Ids for VDAC2 Gene

Previous GeneCards Identifiers for VDAC2 Gene

  • GC10P075924
  • GC10P076073
  • GC10P076863
  • GC10P076315
  • GC10P076276
  • GC10P076640
  • GC10P076969
  • GC10P070968

Summaries for VDAC2 Gene

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. Diseases associated with VDAC2 include Alzheimer Disease and Acute Closed-Angle Glaucoma. Among its related pathways are Statin Pathway and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include nucleotide binding and voltage-gated anion channel activity. An important paralog of this gene is VDAC1.

UniProtKB/Swiss-Prot Summary for VDAC2 Gene

  • Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules (By similarity). The channel adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV (By similarity). The open state has a weak anion selectivity whereas the closed state is cation-selective (By similarity). Binds various lipids, including the sphingolipid ceramide, the phospholipid phosphatidylcholine, and the sterol cholesterol (PubMed:31015432). Binding of ceramide promotes the mitochondrial outer membrane permeabilization (MOMP) apoptotic pathway (PubMed:31015432).

Gene Wiki entry for VDAC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VDAC2 Gene

Genomics for VDAC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VDAC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VDAC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VDAC2

Top Transcription factor binding sites by QIAGEN in the VDAC2 gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • Roaz

Genomic Locations for VDAC2 Gene

Latest Assembly
chr10:75,210,154-75,231,448
(GRCh38/hg38)
Size:
21,295 bases
Orientation:
Plus strand

Previous Assembly
chr10:76,969,928-76,991,206
(GRCh37/hg19 by Entrez Gene)
Size:
21,279 bases
Orientation:
Plus strand

chr10:76,969,912-76,991,206
(GRCh37/hg19 by Ensembl)
Size:
21,295 bases
Orientation:
Plus strand

Genomic View for VDAC2 Gene

Genes around VDAC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VDAC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VDAC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VDAC2 Gene

Proteins for VDAC2 Gene

  • Protein details for VDAC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P45880-VDAC2_HUMAN
    Recommended name:
    Voltage-dependent anion-selective channel protein 2
    Protein Accession:
    P45880
    Secondary Accessions:
    • Q5VWK1
    • Q5VWK3
    • Q6IB40
    • Q7L3J5
    • Q9BWK8
    • Q9Y5I6

    Protein attributes for VDAC2 Gene

    Size:
    294 amino acids
    Molecular mass:
    31567 Da
    Quaternary structure:
    • Interacts with hexokinases (By similarity).

    Alternative splice isoforms for VDAC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VDAC2 Gene

Post-translational modifications for VDAC2 Gene

  • Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys64, Lys121, and Lys172
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for VDAC2 Gene

Domains & Families for VDAC2 Gene

Gene Families for VDAC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for VDAC2 Gene

InterPro:
Blocks:
  • Porin, eukaryotic type

Suggested Antigen Peptide Sequences for VDAC2 Gene

GenScript: Design optimal peptide antigens:
  • Voltage-dependent anion channel 2 (A2A3S1_HUMAN)
  • cDNA, FLJ78818, highly similar to Voltage-dependent anion-selective channel protein 2 (B4DKM5_HUMAN)
  • Voltage-dependent anion channel 2 (Q5JSD1_HUMAN)
  • Voltage-dependent anion channel 2 (Q5JSD2_HUMAN)
  • Outer mitochondrial membrane protein porin 2 (VDAC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P45880

UniProtKB/Swiss-Prot:

VDAC2_HUMAN :
  • Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands.
  • Belongs to the eukaryotic mitochondrial porin family.
Domain:
  • Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands.
Family:
  • Belongs to the eukaryotic mitochondrial porin family.
genes like me logo Genes that share domains with VDAC2: view

Function for VDAC2 Gene

Molecular function for VDAC2 Gene

UniProtKB/Swiss-Prot Function:
Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules (By similarity). The channel adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV (By similarity). The open state has a weak anion selectivity whereas the closed state is cation-selective (By similarity). Binds various lipids, including the sphingolipid ceramide, the phospholipid phosphatidylcholine, and the sterol cholesterol (PubMed:31015432). Binding of ceramide promotes the mitochondrial outer membrane permeabilization (MOMP) apoptotic pathway (PubMed:31015432).
GENATLAS Biochemistry:
voltage-dependent anion channel 2,mitochondrial outer membrane,porin 2,allowing diffusion of small hydrophilic molecules

Phenotypes From GWAS Catalog for VDAC2 Gene

Gene Ontology (GO) - Molecular Function for VDAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 15082785
GO:0008289 lipid binding IEA --
GO:0008308 voltage-gated anion channel activity IBA,IDA 8420959
GO:0015288 porin activity IEA --
genes like me logo Genes that share ontologies with VDAC2: view
genes like me logo Genes that share phenotypes with VDAC2: view

Animal Models for VDAC2 Gene

MGI Knock Outs for VDAC2:

miRNA for VDAC2 Gene

miRTarBase miRNAs that target VDAC2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VDAC2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VDAC2 Gene

Localization for VDAC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VDAC2 Gene

Mitochondrion outer membrane. Membrane. Note=May localize to non-mitochondrial membranes. {ECO:0000269 PubMed:27641616}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VDAC2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for VDAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IDA 23355646
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion IEA,IDA --
GO:0005741 mitochondrial outer membrane IBA 21873635
GO:0008021 synaptic vesicle IEA --
genes like me logo Genes that share ontologies with VDAC2: view

Pathways & Interactions for VDAC2 Gene

genes like me logo Genes that share pathways with VDAC2: view

Pathways by source for VDAC2 Gene

1 GeneGo (Thomson Reuters) pathway for VDAC2 Gene
  • Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins
2 Qiagen pathways for VDAC2 Gene
  • Cellular Apoptosis Pathway
  • Mitochondrial Apoptosis
1 Cell Signaling Technology pathway for VDAC2 Gene

Gene Ontology (GO) - Biological Process for VDAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006820 anion transport IDA 8420959
GO:0007339 binding of sperm to zona pellucida IMP 23355646
GO:0015698 inorganic anion transport IEA --
GO:0032272 negative regulation of protein polymerization IEA --
genes like me logo Genes that share ontologies with VDAC2: view

No data available for SIGNOR curated interactions for VDAC2 Gene

Drugs & Compounds for VDAC2 Gene

(5) Drugs for VDAC2 Gene - From: DrugBank, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aluminium monostearate Experimental Pharma Target, inhibitor 0
PRLX 93936 Investigational Pharma Target 0
Erastin Pharma 0
OLESOXIME Pharma 0

(1) ApexBio Compounds for VDAC2 Gene

Compound Action Cas Number
Erastin 571203-78-6
genes like me logo Genes that share compounds with VDAC2: view

Drug products for research

Transcripts for VDAC2 Gene

mRNA/cDNA for VDAC2 Gene

8 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VDAC2

Alternative Splicing Database (ASD) splice patterns (SP) for VDAC2 Gene

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: - - - -
SP6: - -
SP7: - - - - - - -
SP8: - - - - -
SP9: - - -
SP10: - - -
SP11:

ExUns: 14a · 14b · 14c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for VDAC2 Gene

GeneLoc Exon Structure for
VDAC2

Expression for VDAC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VDAC2 Gene

Protein differential expression in normal tissues from HIPED for VDAC2 Gene

This gene is overexpressed in Nasal epithelium (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VDAC2 Gene



Protein tissue co-expression partners for VDAC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VDAC2

SOURCE GeneReport for Unigene cluster for VDAC2 Gene:

Hs.355927

mRNA Expression by UniProt/SwissProt for VDAC2 Gene:

P45880-VDAC2_HUMAN
Tissue specificity: Expressed in erythrocytes (at protein level) (PubMed:27641616). Expressed in all tissues examined (PubMed:8420959).

Evidence on tissue expression from TISSUES for VDAC2 Gene

  • Nervous system(5)
  • Eye(4.7)
  • Liver(4.6)
  • Blood(4.5)
  • Lung(4)
  • Muscle(3.6)
  • Intestine(3.6)
  • Skin(3.5)
  • Heart(3.4)
  • Pancreas(3.4)
  • Stomach(3.2)
  • Kidney(2.7)
  • Adrenal gland(2.2)
  • Spleen(2.2)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with VDAC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for VDAC2 Gene

Orthologs for VDAC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for VDAC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VDAC2 29 30
  • 99.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VDAC2 29 30
  • 95.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia VDAC2 29 30
  • 95.58 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia VDAC2 30
  • 95 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Vdac2 29
  • 92.57 (n)
Mouse
(Mus musculus)
Mammalia Vdac2 29 16 30
  • 92.33 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia VDAC2 30
  • 92 (a)
OneToOne
Chicken
(Gallus gallus)
Aves VDAC2 29 30
  • 84.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia VDAC2 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia vdac2 29
  • 78.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii vdac2 29
  • 75.74 (n)
VDAC2 30
  • 51 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta porin 29 30 31
  • 60.24 (n)
ManyToMany
Porin2 30
  • 33 (a)
ManyToMany
CG17137 31
  • 33 (a)
CG17139 30
  • 18 (a)
ManyToMany
CG17140 30
  • 17 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009833 29
  • 60.12 (n)
Worm
(Caenorhabditis elegans)
Secernentea R05G6.7 29 31
  • 51.81 (n)
vdac-1 30
  • 40 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03553g 29
  • 44.57 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POR1 29 30
  • 43.19 (n)
ManyToMany
POR2 30
  • 20 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL247C 29
  • 40.79 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11255 30
  • 59 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU04304 29
  • 44.48 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1635.01 29
  • 44.32 (n)
Species where no ortholog for VDAC2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for VDAC2 Gene

ENSEMBL:
Gene Tree for VDAC2 (if available)
TreeFam:
Gene Tree for VDAC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VDAC2: view image
Alliance of Genome Resources:
Additional Orthologs for VDAC2

Paralogs for VDAC2 Gene

Paralogs for VDAC2 Gene

(2) SIMAP similar genes for VDAC2 Gene using alignment to 5 proteins:

  • VDAC2_HUMAN
  • A2A3S1_HUMAN
  • B4DKM5_HUMAN
  • Q5JSD1_HUMAN
  • Q5JSD2_HUMAN
genes like me logo Genes that share paralogs with VDAC2: view

Variants for VDAC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VDAC2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs17849278 Benign: not provided 75,222,255(+) T/C
NM_001184783.2(VDAC2):c.633T>C (p.Asn211=)
SYNONYMOUS
VAR_006380 -- p.Ala24Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for VDAC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for VDAC2 Gene

Variant ID Type Subtype PubMed ID
dgv927n100 CNV gain 25217958
dgv928n100 CNV gain 25217958
esv3546519 CNV deletion 23714750
esv3623848 CNV loss 21293372
nsv831913 CNV loss 17160897

Variation tolerance for VDAC2 Gene

Residual Variation Intolerance Score: 45.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VDAC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VDAC2
Leiden Open Variation Database (LOVD)
VDAC2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VDAC2 Gene

Disorders for VDAC2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for VDAC2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
acute closed-angle glaucoma
  • acute angle-closure glaucoma
3-methylglutaconic aciduria, type iii
  • mgca3
- elite association - COSMIC cancer census association via MalaCards
Search VDAC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VDAC2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with VDAC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VDAC2 Gene

Publications for VDAC2 Gene

  1. Subcellular localization of human voltage-dependent anion channel isoforms. (PMID: 7539795) Yu WH … Forte M (The Journal of biological chemistry 1995) 3 4 22
  2. Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel. (PMID: 8420959) Blachly-Dyson E … Forte M (The Journal of biological chemistry 1993) 3 4 22
  3. Ceramides bind VDAC2 to trigger mitochondrial apoptosis. (PMID: 31015432) Dadsena S … Holthuis JCM (Nature communications 2019) 3 4
  4. TSPO ligands stimulate ZnPPIX transport and ROS accumulation leading to the inhibition of P. falciparum growth in human blood. (PMID: 27641616) Marginedas-Freixa I … Ostuni MA (Scientific reports 2016) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40

Products for VDAC2 Gene

Sources for VDAC2 Gene