RAB32

Chr 6

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtParkinson disease 26, autosomal dominant
1
Active trials
37
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.29
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — RAB32
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
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?
-0.26Z-score
OE missense 1.06 (0.92–1.23)
132 obs / 124.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.66 (0.36–1.29)
0≤0.351.4
Missense OE?1.06 (0.92–1.23)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 6 / 9.1Missense obs/exp: 132 / 124.0Syn Z: -0.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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