RAB20

Chr 13

RAB20, member RAS oncogene family

NCBI Gene: 55647ENSG00000139832UniProt: Q9NX57

RAB20 encodes a small GTPase that regulates intracellular membrane trafficking, specifically controlling apical endocytosis, phagosome maturation and acidification, and phagosome-lysosome fusion. The gene shows low constraint to loss-of-function variation (pLI = 0.004, LOEUF = 1.6), but no confirmed disease associations have been established in humans. Currently, mutations in RAB20 have not been definitively linked to any recognized genetic disorders.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
4
Pubs (1 yr)
111
P/LP submissions
0%
P/LP missense
1.60
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— RAB20
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
111 unique Pathogenic / Likely Pathogenic· 56 VUS of 170 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.60LOEUF
pLI 0.004
Z-score 0.58
OE 0.73 (0.36–1.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.70Z-score
OE missense 0.84 (0.72–0.97)
118 obs / 141.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.73 (0.36–1.60)
0≤0.351.4
Missense OE0.84 (0.72–0.97)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 4 / 5.5Missense obs/exp: 118 / 141.3Syn Z: 0.43
DN
0.79top 25%
GOF
0.76top 25%
LOF
0.2386th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

170 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic110
Likely Pathogenic1
VUS56
Likely Benign1
110
Pathogenic
1
Likely Pathogenic
56
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
110
0
110
Likely Pathogenic
0
0
1
0
1
VUS
0
37
19
0
56
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total0381300168

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

View in ClinVar →

Protein Context — Lollipop Plot

RAB20 · 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 →
Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
YTHDC2-mediated RAB20 degradation regulates NLRP3 inflammasome priming to improve chronic glomerulonephritis.
Tang YY et al.·Gene
2026
RAB20 deficiency promotes the development of silicosis via NLRP3 inflammasome.
Peng Z et al.·Front Immunol
2022Open Access
RAB20 Promotes Proliferation via G2/M Phase through the Chk1/cdc25c/cdc2-cyclinB1 Pathway in Penile Squamous Cell Carcinoma.
Tan X et al.·Cancers (Basel)
2022Open Access
TPI1-reduced extracellular vesicles mediated by Rab20 downregulation promotes aerobic glycolysis to drive hepatocarcinogenesis.
Liu BHM et al.·J Extracell Vesicles
2021Open Access
High-Glucose-Induced Rab20 Upregulation Disrupts Gap Junction Intercellular Communication and Promotes Apoptosis in Retinal Endothelial and Müller Cells: Implications for Diabetic Retinopathy.
Kim D et al.·J Clin Med
2020Open Access
Top 5 resultsSearch Europe PMC ↗

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