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VDAC2 voltage dependent anion channel 2 [ Homo sapiens (human) ]

Gene ID: 7417, updated on 4-Nov-2018

Summary

Official Symbol
VDAC2provided by HGNC
Official Full Name
voltage dependent anion channel 2provided by HGNC
Primary source
HGNC:HGNC:12672
See related
Ensembl:ENSG00000165637 MIM:193245; Vega:OTTHUMG00000018517
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
POR
Summary
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]
Expression
Ubiquitous expression in heart (RPKM 81.3), esophagus (RPKM 66.2) and 25 other tissues See more
Orthologs

Genomic context

See VDAC2 in Genome Data Viewer
Location:
10q22.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (75210154..75231448)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (76969912..76991206)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene dual specificity phosphatase 13 Neighboring gene sterile alpha motif domain containing 8 Neighboring gene ribosomal protein S26 pseudogene 42 Neighboring gene Sharpr-MPRA regulatory region 7934 Neighboring gene catechol-O-methyltransferase domain containing 1 Neighboring gene VISTA enhancer hs1437

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with voltage-dependent anion channel 2 (VDAC2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with voltage-dependent anion channel 2 (VDAC2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of voltage-dependent anion channel 2 (VDAC2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
vpr The G5 domain of gelsolin inhibits HIV-Vpr-induced T-cell apoptosis by blocking the interaction between Vpr and VDAC PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Ferroptosis, organism-specific biosystem (from KEGG)
    Ferroptosis, organism-specific biosystemFerroptosis is a regulated form of cell death and characterized by a production of reactive oxygen species (ROS) from accumulated iron and lipid peroxidation. It can be induced by experimental compou...
  • Ferroptosis, conserved biosystem (from KEGG)
    Ferroptosis, conserved biosystemFerroptosis is a regulated form of cell death and characterized by a production of reactive oxygen species (ROS) from accumulated iron and lipid peroxidation. It can be induced by experimental compou...
  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Parkinson's disease, organism-specific biosystem (from KEGG)
    Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
    Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23841

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
porin activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated anion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
anion transport IDA
Inferred from Direct Assay
more info
PubMed 
binding of sperm to zona pellucida IMP
Inferred from Mutant Phenotype
more info
PubMed 
inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein polymerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal vesicle IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA PubMed 
pore complex IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
voltage-dependent anion-selective channel protein 2
Names
epididymis secretory sperm binding protein
outer mitochondrial membrane protein porin 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

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

mRNA and Protein(s)

  1. NM_001184783.2NP_001171712.1  voltage-dependent anion-selective channel protein 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL390034, AL392111
    Consensus CDS
    CCDS53544.1
    UniProtKB/Swiss-Prot
    P45880
    Related
    ENSP00000361635.1, OTTHUMP00000019877, ENST00000313132.8, OTTHUMT00000048793
    Conserved Domains (1) summary
    cd07306
    Location:30308
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
  2. NM_001184823.1NP_001171752.1  voltage-dependent anion-selective channel protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001171752.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Both variants 2, 3, and 5 all encode the same isoform (2).
    Source sequence(s)
    AL392111, BC000165, BE545584, BU171142
    Consensus CDS
    CCDS7348.1
    UniProtKB/Swiss-Prot
    P45880
    UniProtKB/TrEMBL
    A0A024QZT0
    Related
    ENSP00000443092.1, ENST00000543351.5
    Conserved Domains (1) summary
    cd07306
    Location:15293
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
  3. NM_001324087.1NP_001311016.1  voltage-dependent anion-selective channel protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 6 and 7, encodes isoform 3.
    Source sequence(s)
    AL390034, AL392111
    UniProtKB/TrEMBL
    B4DKM5
    Conserved Domains (1) summary
    cd07306
    Location:12254
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
  4. NM_001324088.1NP_001311017.1  voltage-dependent anion-selective channel protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 2 and 3, encodes isoform 2.
    Source sequence(s)
    AL390034, AL392111
    Consensus CDS
    CCDS7348.1
    UniProtKB/Swiss-Prot
    P45880
    UniProtKB/TrEMBL
    A0A024QZT0
    Conserved Domains (1) summary
    cd07306
    Location:15293
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
  5. NM_001324089.1NP_001311018.1  voltage-dependent anion-selective channel protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 4 and 7, encodes isoform 3.
    Source sequence(s)
    AL390034, AL392111
    UniProtKB/TrEMBL
    B4DKM5
    Conserved Domains (1) summary
    cd07306
    Location:12254
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
  6. NM_001324090.1NP_001311019.1  voltage-dependent anion-selective channel protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 4 and 6, encodes isoform 3.
    Source sequence(s)
    AL390034, AL392111
    UniProtKB/TrEMBL
    B4DKM5
    Conserved Domains (1) summary
    cd07306
    Location:12254
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
  7. NM_003375.4NP_003366.2  voltage-dependent anion-selective channel protein 2 isoform 2

    See identical proteins and their annotated locations for NP_003366.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 2, 3, and 5 all encode the same isoform (2).
    Source sequence(s)
    AL390034, AL392111
    Consensus CDS
    CCDS7348.1
    UniProtKB/Swiss-Prot
    P45880
    UniProtKB/TrEMBL
    A0A024QZT0
    Related
    ENSP00000361686.3, OTTHUMP00000019876, ENST00000332211.10, OTTHUMT00000048792
    Conserved Domains (1) summary
    cd07306
    Location:15293
    Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    75210154..75231448
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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