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

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; AllianceGenome:HGNC:12672
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 10q22.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (75210170..75231448)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (76083655..76104942)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (76969928..76991206)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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 Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

STING Suppresses Mitochondrial VDAC2 to Govern RCC Growth Independent of Innate Immunity.
Title: STING Suppresses Mitochondrial VDAC2 to Govern RCC Growth Independent of Innate Immunity.
Protein mass spectrometry reveals lycorine exerting anti-multiple-myeloma effect by acting on VDAC2 and causing mitochondrial abnormalities.
Title: Protein mass spectrometry reveals lycorine exerting anti-multiple-myeloma effect by acting on VDAC2 and causing mitochondrial abnormalities.
Palmitoylated CKAP4 regulates mitochondrial functions through an interaction with VDAC2 at ER-mitochondria contact sites.
Title: Palmitoylated CKAP4 regulates mitochondrial functions through an interaction with VDAC2 at ER-mitochondria contact sites.
BioID-based proteomic analysis of the Bid interactome identifies novel proteins involved in cell-cycle-dependent apoptotic priming.
Title: BioID-based proteomic analysis of the Bid interactome identifies novel proteins involved in cell-cycle-dependent apoptotic priming.
Inflammatory IFIT3 renders chemotherapy resistance by regulating post-translational modification of VDAC2 in pancreatic cancer.
Title: Inflammatory IFIT3 renders chemotherapy resistance by regulating post-translational modification of VDAC2 in pancreatic cancer.
Bisindolylpyrrole triggers transient mitochondrial permeability transitions to cause apoptosis in a VDAC1/2 and cyclophilin D-dependent manner via the ANT-associated pore.
Title: Bisindolylpyrrole triggers transient mitochondrial permeability transitions to cause apoptosis in a VDAC1/2 and cyclophilin D-dependent manner via the ANT-associated pore.
Structure-based modeling of turnover of Bcl-2 family proteins bound to voltage-dependent anion channel 2 (VDAC2): Implications for the mechanisms of proapoptotic activation of Bak and Bax in vivo.
Title: Structure-based modeling of turnover of Bcl-2 family proteins bound to voltage-dependent anion channel 2 (VDAC2): Implications for the mechanisms of proapoptotic activation of Bak and Bax in vivo.
A High Resolution Mass Spectrometry Study Reveals the Potential of Disulfide Formation in Human Mitochondrial Voltage-Dependent Anion Selective Channel Isoforms (hVDACs).
Title: A High Resolution Mass Spectrometry Study Reveals the Potential of Disulfide Formation in Human Mitochondrial Voltage-Dependent Anion Selective Channel Isoforms (hVDACs).
Expression of voltage-dependent anion channels in endometrial cancer and its potential prognostic significance.
Title: Expression of voltage-dependent anion channels in endometrial cancer and its potential prognostic significance.
mitochondrial targeting domain peptide induces necrotic cell death by interaction with the VDAC2 protein.
Title: Noxa mitochondrial targeting domain induces necrosis via VDAC2 and mitochondrial catastrophe.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D10S2411 (e-PCR)
- UniSTS:7750

RH80786 (e-PCR)
- UniSTS:86611

G34956 (e-PCR)
- UniSTS:117666

RH67025 (e-PCR)
- UniSTS:86732

SHGC-132209 (e-PCR)
- UniSTS:170713

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ceramide binding	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables oxysterol binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables porin activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated monoatomic anion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated monoatomic anion channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in binding of sperm to zona pellucida	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial outer membrane permeabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic anion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein polymerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
part_of pore complex	IEA Inferred from Electronic Annotation more info
located_in sperm midpiece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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)

NM_001184783.3 → NP_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/TrEMBL

A0A0A0MR02

Related

ENSP00000361635.1, ENST00000313132.8

Conserved Domains (1) summary

cd07306
Location:30 → 308

Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
NM_001184823.2 → NP_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, Q5VWK1, Q5VWK3, Q6IB40, Q7L3J5, Q9BWK8, Q9Y5I6

UniProtKB/TrEMBL

A0A024QZT0, A0A0A0MR02

Related

ENSP00000443092.1, ENST00000543351.5

Conserved Domains (1) summary

cd07306
Location:15 → 293

Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
NM_001324087.2 → NP_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

A0A0A0MR02, B4DKM5

Conserved Domains (1) summary

cd07306
Location:12 → 254

Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
NM_001324088.2 → NP_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, Q5VWK1, Q5VWK3, Q6IB40, Q7L3J5, Q9BWK8, Q9Y5I6

UniProtKB/TrEMBL

A0A024QZT0, A0A0A0MR02

Conserved Domains (1) summary

cd07306
Location:15 → 293

Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
NM_001324089.2 → NP_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

A0A0A0MR02, B4DKM5

Conserved Domains (1) summary

cd07306
Location:12 → 254

Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
NM_001324090.2 → NP_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

A0A0A0MR02, B4DKM5

Conserved Domains (1) summary

cd07306
Location:12 → 254

Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
NM_001391963.1 → NP_001378892.1 voltage-dependent anion-selective channel protein 2 isoform 2

Status: REVIEWED

Source sequence(s)

AL390034, AL392111

Consensus CDS

CCDS7348.1

UniProtKB/Swiss-Prot

P45880, Q5VWK1, Q5VWK3, Q6IB40, Q7L3J5, Q9BWK8, Q9Y5I6

UniProtKB/TrEMBL

A0A024QZT0, A0A0A0MR02

Related

ENSP00000361686.3, ENST00000332211.11

Conserved Domains (1) summary

cd07306
Location:15 → 293

Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane
NM_003375.5 → NP_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, Q5VWK1, Q5VWK3, Q6IB40, Q7L3J5, Q9BWK8, Q9Y5I6

UniProtKB/TrEMBL

A0A024QZT0, A0A0A0MR02

Conserved Domains (1) summary

cd07306
Location:15 → 293

Porin3_VDAC; Voltage-dependent anion channel of the outer mitochondrial membrane