CAV2

Chr 7

caveolin 2

Also known as: CAV

NCBI Gene: 858ENSG00000105971UniProt: P51636

The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011]

61
ClinVar variants
25
Pathogenic / LP
0.03
pLI score
0
Active trials
Clinical Summary— CAV2
🧬
Gene-Disease Validity (ClinGen)
amyotrophic lateral sclerosis · ADLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.03) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
25 Pathogenic / Likely Pathogenic· 31 VUS of 61 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.34LOEUF
pLI 0.027
Z-score 1.05
OE 0.53 (0.24–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.04Z-score
OE missense 0.99 (0.83–1.18)
89 obs / 90.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.53 (0.24–1.34)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.83–1.18)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.97
0≤1.21.6
LoF obs/exp: 3 / 5.7Missense obs/exp: 89 / 90.2Syn Z: 0.14

ClinVar Variant Classifications

61 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic2
VUS31
Likely Benign4
Benign1
23
Pathogenic
2
Likely Pathogenic
31
VUS
4
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
23
0
23
Likely Pathogenic
0
0
2
0
2
VUS
0
26
5
0
31
Likely Benign
0
4
0
0
4
Benign
0
1
0
0
1
Total03130061

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CAV2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
CAVEOLIN 2; CAV2
MIM #601048 · *
📖
GeneReview available — CAV2
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL et al.·Am J Hum Genet
2018
Episodic ataxias.
Jen JC et al.·Handb Clin Neurol
2018Review
CaV2.1 channelopathies.
Pietrobon D·Pflugers Arch
2010Review
Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.
Sampedro-Castañeda M et al.·Nat Commun
2023
Phenotypic variability in cases with CACNA1A mutation.
Bozkaya-Yilmaz S et al.·Eur J Pediatr
2025Cohort
Episodic ataxia type 2.
Strupp M et al.·Neurotherapeutics
2007Review
Migraine: Calcium Channels and Glia.
Kowalska M et al.·Int J Mol Sci
2021Review
Rare CACNA1A mutations leading to congenital ataxia.
Izquierdo-Serra M et al.·Pflugers Arch
2020Review
Prognostic Value of CAV1 and CAV2 in Head and Neck Squamous Cell Carcinoma.
He J et al.·Biomolecules
2023
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.
Kurganov E et al.·Sci Transl Med
2025Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
CAV2-expressing nerves induce metabolic switch toward mitochondrial oxidative phosphorylation to promote cancer stemness.
Zhang Z et al.·Nat Commun
2025🔓 Open Access
The Mechanism of LTXN4C-Induced Ca2+ Influx Involves Latrophilin-Mediated Activation of Cav2.x Channels.
Blackburn JK et al.·Int J Mol Sci
2025🔓 Open AccessFunctional
Ciprofloxacin enhances RSL3-induced ferroptosis by promoting mitochondrial Zn2+ accumulation via the STING1-CAV2 pathway.
Tang H et al.·J Biol Chem
2025🔓 Open Access
Disrupting lipid homeostasis with CAV2 in OSCC triggers apoptosis, lipolysis, and mitochondrial dysfunction by transcriptional repression of PPARγ.
Bai Y et al.·Cell Biosci
2025🔓 Open Access
Specific presynaptic functions require distinct Drosophila Cav2 splice isoforms.
Bell C et al.·Elife
2025🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

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