VDAC3: Voltage Dependent Anion Channel 3
A key mitochondrial porin involved in metabolism, apoptosis, and spermatogenesis
Gene Information Card
| Symbol | VDAC3 |
|---|---|
| Full Name | Voltage Dependent Anion Channel 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.21 |
| NCBI Gene ID | 7419 ncbi.nlm.nih.gov/gene/7419 |
| Ensembl ID | ENSG00000178685 |
| UniProt ID | Q9Y277 |
| OMIM ID | 605918 |
| HGNC ID | 12673 |
| Aliases | HD-VDAC3, VDAC-3, HVDAC3 |
Description
VDAC3 encodes a voltage-dependent anion channel (VDAC) localized to the outer mitochondrial membrane. It forms a pore that mediates the transport of metabolites, ions, and nucleotides across the mitochondrial membrane. VDAC3 is involved in mitochondrial metabolism, apoptosis regulation, and male fertility, particularly in sperm flagellar function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (asthenozoospermia) | VDAC3 deficiency disrupts mitochondrial ATP production and sperm motility | PMID: 16914751 |
| Cancer (potential role) | Altered VDAC3 expression affects mitochondrial apoptosis and metabolic reprogramming | PMID: 30093503 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Brain | 8.3 | Low |
| Kidney | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 14.7 | Moderate expression |
| K562 | 11.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.472C>T (p.Arg158Cys) | Missense | <0.01% | Reduced channel conductance |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg158Cys) impair pore function and mitochondrial metabolite exchange.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • porin activity (GO:0015288) | • mitochondrion (GO:0005739) |
| • mitochondrial outer membrane (GO:0005741) | • transport (GO:0006810) |
| • apoptotic process (GO:0006915) | • cell differentiation (GO:0030154) |
Pathways
• Mitochondrial calcium ion transport
• Apoptosis (mitochondrial pathway)
• Metabolic reprogramming in cancer
Protein Summary
VDAC3 is a 283-amino acid protein forming a beta-barrel channel in the mitochondrial outer membrane. It regulates the flux of small molecules (e.g., ATP, ADP, NADH) and ions, and interacts with pro-apoptotic proteins such as BAX. VDAC3 is essential for normal sperm motility and mitochondrial function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VDAC3 Knockout HEK293 Cell Line | EDJ-KQ972 | Human | 7419 | Details Get a Quote |
| VDAC3 Knockout A-549 Cell Line | EDJ-KQ21330 | Human | 7419 | Details Get a Quote |
| VDAC3 Knockout HCT 116 Cell Line | EDJ-KQ21332 | Human | 7419 | Details Get a Quote |
| VDAC3 Knockout HeLa Cell Line | EDJ-KQ21333 | Human | 7419 | Details Get a Quote |
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