RAB32

Chr 6AD

RAB32, member RAS oncogene family

Also known as: PARK26

NCBI Gene: 10981ENSG00000118508UniProt: Q13637

The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]

Primary Disease Associations & Inheritance

{Parkinson disease 26, autosomal dominant, susceptibility to}MIM #620923
AD
42
ClinVar variants
15
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— RAB32
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 27 VUS of 42 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

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.
1.29LOEUF
pLI 0.001
Z-score 0.96
OE 0.66 (0.36–1.29)
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.
-0.26Z-score
OE missense 1.06 (0.92–1.23)
132 obs / 124.0 exp
Tolerant

Tolerant to missense variation

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.0.66 (0.36–1.29)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.06 (0.92–1.23)
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.1.11
0≤1.21.6
LoF obs/exp: 6 / 9.1Missense obs/exp: 132 / 124.0Syn Z: -0.60

ClinVar Variant Classifications

42 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
VUS27
15
Pathogenic
27
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
15
0
15
Likely Pathogenic
0
0
0
0
0
VUS
0
24
3
0
27
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02418042

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

View in ClinVar →

Protein Context — Lollipop Plot

RAB32 · 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

{Parkinson disease 26, autosomal dominant, susceptibility to}

MIM #620923

Molecular basis of disorder known

Autosomal dominant
📖
GeneReview available — RAB32
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Rab32 promotes glioblastoma migration and invasion via regulation of ERK/Drp1-mediated mitochondrial fission.
Chen P et al.·Cell Death Dis
2023
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Gustavsson EK et al.·Lancet Neurol
2024Functional
RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria.
Kleinz T et al.·Mov Disord
2025Review
Rab32 subfamily small GTPases: pleiotropic Rabs in endosomal trafficking.
Ohbayashi N et al.·J Biochem
2017Review
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.
Hop PJ et al.·Nat Genet
2024
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.
Radefeldt M et al.·Mov Disord
2025
Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome.
Yong X et al.·Nat Commun
2025
18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variant.
Cavallieri F et al.·Parkinsonism Relat Disord
2025
The RAB32 p.Ser71Arg Variant in Parkinsonisms: Insights from a Large Italian Cohort.
Magistrelli L et al.·Mov Disord
2025Cohort
Genetics of Parkinson's Disease: From Causes to Treatment.
Westenberger A et al.·Cold Spring Harb Perspect Med
2025Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
LeprosyMycobacterium Leprae Infection

Rab 32 Gene Polymorphisms as a Prognostic Factor in Leprosy Patients

RECRUITING
NCT06819449Phase NASouth Valley UniversityStarted 2024-12-20
Dapsone

External Resources

Links to major genomics databases and tools