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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RAB20
RAB20, member RAS oncogene family
Chromosome 13 · 13q34
NCBI Gene: 55647Ensembl: ENSG00000139832.6HGNC: HGNC:18260UniProt: Q9NX57
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phagocytic vesicleGolgi apparatusphagosome acidificationphagosome-lysosome fusionhypothyroidismneurodegenerative diseasethyroid diseaseAlzheimer disease
✦AI Summary

RAB20 is a small GTPase that regulates intracellular membrane trafficking and plays critical roles in phagosome maturation and pathogen defense. In macrophages, RAB20 is upregulated by interferon-γ and controls phagosome maturation by inducing early delays and extending Rab5a and PI3P association with phagosomes 1. RAB20 maintains phagosome integrity and promotes endosomal membrane influx to control Mycobacterium tuberculosis replication within spacious proteolytic phagolysosomes 2. The protein also facilitates phagosome acidification and lysosome fusion, with deficiency leading to increased lysosomal injury and enhanced NLRP3 inflammasome activation in silicosis 3. RAB20 localizes to the Golgi apparatus and mitochondria, where it mediates hypoxia-induced apoptosis as a HIF-1 target gene 4 5. In hepatocellular carcinoma, RAB20 downregulation affects extracellular vesicle composition, reducing TPI1 content and promoting aerobic glycolysis that drives tumorigenesis 6. The gene is also overexpressed in pancreatic adenocarcinomas and regulated by Ikaros in B-cell acute lymphoblastic leukemia 5 7. These findings establish RAB20 as a key regulator of membrane trafficking with significant roles in immune defense, cellular metabolism, and cancer pathogenesis.

Sources cited
1
RAB20 is upregulated by interferon-γ and controls phagosome maturation by inducing delays and extending Rab5a/PI3P association
PMID: 24569883
2
RAB20 maintains phagosome integrity and controls M. tuberculosis replication in spacious proteolytic phagolysosomes
PMID: 28494243
3
RAB20 deficiency leads to lysosomal injury and enhanced NLRP3 inflammasome activation in silicosis
PMID: 36131930
4
RAB20 localizes to mitochondria and mediates hypoxia-induced apoptosis as a HIF-1 target
PMID: 21056597
5
RAB20 localizes to Golgi apparatus and is overexpressed in pancreatic adenocarcinomas
PMID: 16613320
6
RAB20 downregulation affects extracellular vesicles and promotes aerobic glycolysis in hepatocellular carcinoma
PMID: 34401050
7
RAB20 is regulated by Ikaros transcription factor in B-cell acute lymphoblastic leukemia
PMID: 32138279
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.49Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
thyroid diseaseOpen Targets
0.44Moderate
Alzheimer diseaseOpen Targets
0.33Weak
lysosomal storage diseaseOpen Targets
0.33Weak
multiple sclerosisOpen Targets
0.33Weak
Parkinson diseaseOpen Targets
0.33Weak
amyotrophic lateral sclerosisOpen Targets
0.31Weak
duodenitisOpen Targets
0.16Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
silicosisOpen Targets
0.07Suggestive
adverse effectOpen Targets
0.07Suggestive
response to stimulusOpen Targets
0.07Suggestive
colorectal cancerOpen Targets
0.07Suggestive
percutaneous transluminal coronary angioplastyOpen Targets
0.06Suggestive
benign colon neoplasmOpen Targets
0.06Suggestive
coronary artery diseaseOpen Targets
0.06Suggestive
colon carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
coronary atherosclerosisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RABGEF1Protein interaction73%RAB5CShared pathway33%RAB22AShared pathway33%RAB39AShared pathway29%RAB5BShared pathway29%ENTHD1Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Lung
91%
Bone Marrow
53%
Ovary
40%
Heart
26%
Brain
8%
Gene Interaction Network
Click a node to explore
RAB20RABGEF1RAB5CRAB22ARAB39ARAB5BENTHD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NX57
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.74LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.86 [0.42–1.74]
RankingsWhere RAB20 stands among ~20K protein-coding genes
  • #13,498of 20,598
    Most Researched23
  • #16,304of 17,882
    Most Constrained (LOEUF)1.74
Genes detectedRAB20
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RAB20 deficiency promotes the development of silicosis
PMID: 36131930
Front Immunol · 2022
1.00
2
Identification of an immune-regulated phagosomal Rab cascade in macrophages.
PMID: 24569883
J Cell Sci · 2014
0.90
3
Regulation of Small GTPase Rab20 by Ikaros in B-Cell Acute Lymphoblastic Leukemia.
PMID: 32138279
Int J Mol Sci · 2020
0.80
4
TPI1-reduced extracellular vesicles mediated by Rab20 downregulation promotes aerobic glycolysis to drive hepatocarcinogenesis.
PMID: 34401050
J Extracell Vesicles · 2021
0.70
5
DNA methylation pattern of hypertriglyceridemic subjects.
PMID: 34879978
Clin Investig Arterioscler · 2022
0.60