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 ar... See more...

Aliases for VDAC3 Gene

Aliases for VDAC3 Gene

  • Voltage Dependent Anion Channel 3 2 3 5
  • Voltage-Dependent Anion-Selective Channel Protein 3 3 4
  • Outer Mitochondrial Membrane Protein Porin 3 3 4
  • HD-VDAC3 2 3
  • VDAC-3 3 4
  • HVDAC3 4
  • VDAC3 5

External Ids for VDAC3 Gene

Previous GeneCards Identifiers for VDAC3 Gene

  • GC08P041661
  • GC08P042274
  • GC08P041990
  • GC08P042266
  • GC08P040772
  • GC08P042249

Summaries for VDAC3 Gene

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 Acute Closed-Angle Glaucoma and 3-Methylglutaconic Aciduria, Type Iii. Among its related pathways are Metabolism of proteins and Calcium signaling pathway. Gene Ontology (GO) annotations related to this gene include nucleotide binding and voltage-gated anion channel activity. An important paralog of this gene is VDAC2.

UniProtKB/Swiss-Prot Summary for VDAC3 Gene

  • Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules.

Gene Wiki entry for VDAC3 Gene

Additional gene information for VDAC3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VDAC3 Gene

Genomics for VDAC3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VDAC3 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 VDAC3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VDAC3

Top Transcription factor binding sites by QIAGEN in the VDAC3 gene promoter:
  • AREB6
  • FOXD3
  • IRF-7A
  • Lmo2
  • NF-1
  • NF-1/L
  • NRSF form 1
  • NRSF form 2
  • RFX1
  • Sox5

Genomic Locations for VDAC3 Gene

Genomic Locations for VDAC3 Gene
chr8:42,391,624-42,405,937
(GRCh38/hg38)
Size:
14,314 bases
Orientation:
Plus strand
chr8:42,249,142-42,263,415
(GRCh37/hg19)
Size:
14,274 bases
Orientation:
Plus strand

Genomic View for VDAC3 Gene

Genes around VDAC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VDAC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VDAC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VDAC3 Gene

Proteins for VDAC3 Gene

  • Protein details for VDAC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y277-VDAC3_HUMAN
    Recommended name:
    Voltage-dependent anion-selective channel protein 3
    Protein Accession:
    Q9Y277
    Secondary Accessions:
    • Q9UIS0

    Protein attributes for VDAC3 Gene

    Size:
    283 amino acids
    Molecular mass:
    30659 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for VDAC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VDAC3 Gene

Post-translational modifications for VDAC3 Gene

  • Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys20, Lys53, Lys109, and Lys110
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for VDAC3 Gene

Domains & Families for VDAC3 Gene

Gene Families for VDAC3 Gene

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

Protein Domains for VDAC3 Gene

InterPro:
Blocks:
  • Porin, eukaryotic type
ProtoNet:

Suggested Antigen Peptide Sequences for VDAC3 Gene

GenScript: Design optimal peptide antigens:
  • Outer mitochondrial membrane protein porin 3 (VDAC3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y277

UniProtKB/Swiss-Prot:

VDAC3_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 VDAC3: view

Function for VDAC3 Gene

Molecular function for VDAC3 Gene

UniProtKB/Swiss-Prot Function:
Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules.
GENATLAS Biochemistry:
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

Phenotypes From GWAS Catalog for VDAC3 Gene

Gene Ontology (GO) - Molecular Function for VDAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 29128334
GO:0008308 voltage-gated anion channel activity IEA,TAS 9781040
GO:0015288 porin activity IEA --
genes like me logo Genes that share ontologies with VDAC3: view
genes like me logo Genes that share phenotypes with VDAC3: view

Animal Models for VDAC3 Gene

MGI Knock Outs for VDAC3:

Animal Model Products

CRISPR Products

miRNA for VDAC3 Gene

miRTarBase miRNAs that target VDAC3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VDAC3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VDAC3 Gene

Localization for VDAC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VDAC3 Gene

Mitochondrion outer membrane.

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 VDAC3 gene
Compartment Confidence
mitochondrion 5
extracellular 4
nucleus 4
cytosol 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for VDAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion IEA,IDA --
GO:0005741 mitochondrial outer membrane IEA,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with VDAC3: view

Pathways & Interactions for VDAC3 Gene

genes like me logo Genes that share pathways with VDAC3: view

Pathways by source for VDAC3 Gene

2 Qiagen pathways for VDAC3 Gene
  • Cellular Apoptosis Pathway
  • Mitochondrial Apoptosis

Gene Ontology (GO) - Biological Process for VDAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0006811 ion transport IEA --
GO:0007268 chemical synaptic transmission IEA --
GO:0007270 neuron-neuron synaptic transmission IEA --
GO:0007612 learning IEA --
genes like me logo Genes that share ontologies with VDAC3: view

No data available for SIGNOR curated interactions for VDAC3 Gene

Drugs & Compounds for VDAC3 Gene

(4) Drugs for VDAC3 Gene - From: DrugBank, ApexBio, and DGIdb

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 VDAC3 Gene

Compound Action Cas Number
Erastin 571203-78-6
genes like me logo Genes that share compounds with VDAC3: view

Drug Products

Transcripts for VDAC3 Gene

mRNA/cDNA for VDAC3 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VDAC3

Alternative Splicing Database (ASD) splice patterns (SP) for VDAC3 Gene

No ASD Table

Relevant External Links for VDAC3 Gene

GeneLoc Exon Structure for
VDAC3

Expression for VDAC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VDAC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VDAC3 Gene

This gene is overexpressed in Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for VDAC3 Gene

This gene is overexpressed in Nasal epithelium (30.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VDAC3 Gene



Protein tissue co-expression partners for VDAC3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VDAC3

SOURCE GeneReport for Unigene cluster for VDAC3 Gene:

Hs.699301

mRNA Expression by UniProt/SwissProt for VDAC3 Gene:

Q9Y277-VDAC3_HUMAN
Tissue specificity: Widely expressed. Highest in testis.

Evidence on tissue expression from TISSUES for VDAC3 Gene

  • Nervous system(4.6)
  • Skin(4.5)
  • Blood(4.5)
  • Heart(3.3)
  • Muscle(3.3)
  • Eye(3)
  • Liver(2.9)
  • Kidney(2.8)
  • Lung(2.8)
  • Intestine(2.6)
  • Adrenal gland(2.4)
  • Thyroid gland(2.4)
  • Lymph node(2.4)
  • Stomach(2.3)
  • Spleen(2.3)
  • Pancreas(2.3)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with VDAC3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for VDAC3 Gene

Orthologs for VDAC3 Gene

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

Orthologs for VDAC3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VDAC3 30 31
  • 99.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Vdac3-ps1 31
  • 98 (a)
OneToMany
Vdac3 30 17 31
  • 91.76 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia VDAC5P 31
  • 98 (a)
OneToMany
VDAC3 30
  • 93.64 (n)
-- 31
  • 76 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia VDAC3 30 31
  • 94.58 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 77 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Vdac3 30
  • 90.69 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia VDAC3 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves VDAC3 30 31
  • 77.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia VDAC3 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia vdac3 30
  • 71.61 (n)
Str.5756 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.2509 30
Zebrafish
(Danio rerio)
Actinopterygii VDAC3 (3 of 3) 31
  • 77 (a)
OneToMany
VDAC3 (2 of 3) 31
  • 72 (a)
OneToMany
vdac3 30 31
  • 69.27 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta porin 31 32
  • 58 (a)
ManyToMany
Porin2 31
  • 35 (a)
ManyToMany
CG17137 32
  • 35 (a)
CG17139 31
  • 18 (a)
ManyToMany
CG17140 31
  • 17 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea vdac-1 31
  • 39 (a)
OneToMany
R05G6.7 32
  • 39 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POR1 31 33
  • 27 (a)
ManyToMany
POR2 31
  • 20 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11255 31
  • 54 (a)
OneToMany
Species where no ortholog for VDAC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 VDAC3 Gene

ENSEMBL:
Gene Tree for VDAC3 (if available)
TreeFam:
Gene Tree for VDAC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VDAC3: view image

Paralogs for VDAC3 Gene

Paralogs for VDAC3 Gene

(2) SIMAP similar genes for VDAC3 Gene using alignment to 8 proteins:

  • VDAC3_HUMAN
  • E5RFL1_HUMAN
  • E5RFP6_HUMAN
  • E5RHE1_HUMAN
  • E5RHZ6_HUMAN
  • E5RJN6_HUMAN
  • E5RK27_HUMAN
  • F5H740_HUMAN

Pseudogenes.org Pseudogenes for VDAC3 Gene

genes like me logo Genes that share paralogs with VDAC3: view

Variants for VDAC3 Gene

Additional dbSNP identifiers (rs#s) for VDAC3 Gene

Structural Variations from Database of Genomic Variants (DGV) for VDAC3 Gene

Variant ID Type Subtype PubMed ID
esv3380474 CNV insertion 20981092
nsv831301 CNV loss 17160897

Variation tolerance for VDAC3 Gene

Residual Variation Intolerance Score: 27.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VDAC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VDAC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VDAC3 Gene

Disorders for VDAC3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for VDAC3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acute closed-angle glaucoma
  • acute angle-closure glaucoma
3-methylglutaconic aciduria, type iii
  • mgca3
- elite association - COSMIC cancer census association via MalaCards
Search VDAC3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VDAC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with VDAC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VDAC3 Gene

Publications for VDAC3 Gene

  1. 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. (PMID: 10833333) Decker WK … Craigen WJ (Molecular genetics and metabolism 2000) 3 4 23
  2. Isolation of a novel human voltage-dependent anion channel gene. (PMID: 9781040) Rahmani Z … Siddiqui A (European journal of human genetics : EJHG 1998) 2 3 4
  3. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. Human spermatozoa contain multiple targets for protein S-nitrosylation: an alternative mechanism of the modulation of sperm function by nitric oxide? (PMID: 17683036) Lefièvre L … Barratt CL (Proteomics 2007) 3 23

Products for VDAC3 Gene

  • Signalway Proteins for VDAC3

Sources for VDAC3 Gene