VDAC2: Voltage-Dependent Anion Channel 2
A key mitochondrial porin involved in apoptosis, metabolism, and calcium homeostasis
Gene Information Card
| Symbol | VDAC2 |
|---|---|
| Full Name | Voltage Dependent Anion Channel 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 7417 ncbi.nlm.nih.gov/gene/7417 |
| Ensembl ID | ENSG00000165637 |
| UniProt ID | P45880 |
| OMIM ID | 604634 |
| HGNC ID | 12672 |
| Aliases | POR2, VDAC2, HVDAC2 |
Description
VDAC2 encodes a voltage-dependent anion channel (VDAC) localized to the mitochondrial outer membrane. It forms a pore that mediates the transport of metabolites, ions, and nucleotides across the mitochondrial membrane. VDAC2 plays a critical role in regulating apoptosis by interacting with pro-apoptotic proteins such as BAK and BAX, and is involved in calcium homeostasis and mitochondrial dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered VDAC2 expression affects mitochondrial apoptosis and metabolism | PMID: 25620004 |
| Neurodegenerative disorders | Dysregulation of VDAC2-mediated calcium flux contributes to neuronal cell death | PMID: 29127120 |
| Cardiovascular disease | VDAC2 modulation influences cardiomyocyte apoptosis and ischemia-reperfusion injury | PMID: 30208973 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | High |
| Liver | 8.7 | Medium |
| Brain | 6.5 | Medium |
| Skeletal Muscle | 10.1 | High |
| Kidney | 7.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression |
| HeLa | 11.2 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| SH-SY5Y | 7.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function |
| c.200C>T | Nonsense | <0.01% | Truncated protein |
| c.350G>A | Missense | <0.01% | Altered channel activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or unstable protein
Gain of Function (GOF)
Not well characterized; rare missense variants may alter pore conductance
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated anion channel activity (GO:0008308) | • mitochondrion (GO:0005739) |
| • apoptotic process (GO:0006915) | • transport (GO:0006810) |
| • protein binding (GO:0005515) |
Pathways
• Apoptosis (KEGG: hsa04210)
• Calcium signaling pathway (KEGG: hsa04020)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
VDAC2 is a 31.7 kDa protein with 294 amino acids, forming a beta-barrel pore in the mitochondrial outer membrane. It regulates metabolite flux, interacts with BCL-2 family proteins to control apoptosis, and modulates calcium uptake into mitochondria. Its expression is ubiquitous with highest levels in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VDAC2 Knockout HEK293 Cell Line | EDJ-KQ50708 | Human | 7417 | Details Get a Quote |
| VDAC2 Knockout HeLa Cell Line | EDJ-KQ54738 | Human | 7417 | Details Get a Quote |
| VDAC2 Knockout A-549 Cell Line | EDJ-KQ63230 | Human | 7417 | Details Get a Quote |
| VDAC2 Knockout HCT 116 Cell Line | EDJ-KQ71695 | Human | 7417 | Details Get a Quote |
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