VDAC2

Chr 10

voltage dependent anion channel 2

NCBI Gene: 7417ENSG00000165637UniProt: P45880OMIM: 193245

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]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
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P/LP missense
0.48
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.48LOEUF
pLI 0.634
Z-score 3.05
OE 0.18 (0.08–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.14Z-score
OE missense 0.74 (0.64–0.87)
118 obs / 158.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.08–0.48)
0≤0.351.4
Missense OE?0.74 (0.64–0.87)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 3 / 16.3Missense obs/exp: 118 / 158.5Syn Z: -0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

VDAC2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients