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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RAB38
RAB38, member RAS oncogene family
Chromosome 11 · 11q14.2
NCBI Gene: 23682Ensembl: ENSG00000123892.13HGNC: HGNC:9776UniProt: P57729
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein localization to membranephagosome acidificationmelanosome assemblymitochondrionbenign neoplasm of eyeplacental retentionasthmaliver disease
✦AI Summary

RAB38 is a small GTPase that functions as a key regulator of intracellular membrane trafficking in specialized cell types, particularly melanocytes, alveolar type II cells, and platelets 1. RAB38 primarily regulates the biogenesis and trafficking of lysosome-related organelles (LROs), including melanosomes, lamellar bodies, and platelet dense granules 12. The protein works cooperatively with RAB32 and the BLOC-3 complex (its guanine nucleotide exchange factor) to redirect trafficking machinery—including AP-1, AP-2, and AP-3 adaptor complexes—to ensure proper sorting and localization of melanogenic enzymes like TYRP1, TYR, and DCT/TYRP2 to melanosomes 2. Additionally, RAB38 plays roles in phagosome maturation during pathogen defense and regulates autophagosomal component recycling through SNX16 interactions 34. Recently, RAB38 was identified as a physiologic regulator of LRRK2, the Parkinson's disease-associated kinase, by mediating its membrane recruitment and substrate phosphorylation in melanocytes 5. Clinically, RAB38 dysfunction is implicated in Hermansky-Pudlak syndrome (HPS), characterized by oculocutaneous albinism, platelet storage defects, and progressive interstitial pneumonia 16. Genome-wide association studies have also identified RAB38 variants as genetic risk factors for hypertension-induced kidney disease and end-stage renal disease 7.

Sources cited
1
RAB38 is a physiologic regulator of LRRK2 that drives its membrane recruitment and substrate phosphorylation
PMID: 37625589
2
RAB38 is highly expressed in specialized cells with lysosome-related organelles; mutations cause oculocutaneous albinism and lung abnormalities similar to HPS
PMID: 30060521
3
RAB38 is a target of miR-124 and is involved in oxidative stress-induced apoptosis via AKT pathway regulation
PMID: 24875359
4
RAB38 genetic variants are associated with higher risk for ESRD in hypertensive patients
PMID: 33377622
5
Combined RAB32/RAB38 deficiency mimics severe HPS with coat color dilution, platelet dense granule defects, and impaired thrombosis
PMID: 31399401
6
RAB32 and RAB38 cooperate with BLOC-2, AP-1, and AP-3 to traffic melanin-producing enzymes to melanosomes
PMID: 23247405
7
BLOC-3 is the guanine nucleotide exchange factor for RAB32/38 and its dysfunction causes HPS
PMID: 40140412
8
RAB32 and RAB38 regulate autophagosomal component recycling through SNX16 interactions
PMID: 41237209
Disease Associationsⓘ20
benign neoplasm of eyeOpen Targets
0.45Moderate
placental retentionOpen Targets
0.25Weak
asthmaOpen Targets
0.25Weak
liver diseaseOpen Targets
0.24Weak
smoking initiationOpen Targets
0.24Weak
ganglion or cyst of synovium/tendon/bursaOpen Targets
0.21Weak
poisoningOpen Targets
0.19Weak
nerve plexus diseaseOpen Targets
0.19Weak
rheumatoid arthritisOpen Targets
0.19Weak
multinodular goiterOpen Targets
0.19Weak
immune system diseaseOpen Targets
0.19Weak
circadian rhythm sleep disorderOpen Targets
0.19Weak
ovarian dysfunctionOpen Targets
0.18Weak
benign neoplasmOpen Targets
0.16Weak
peripheral vascular diseaseOpen Targets
0.16Weak
Griscelli diseaseOpen Targets
0.10Weak
Griscelli disease type 3Open Targets
0.10Suggestive
Griscelli syndrome type 3Open Targets
0.10Suggestive
ringed hair diseaseOpen Targets
0.09Suggestive
uncombable hair syndromeOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NCAPGProtein interaction93%ANKRD27Protein interaction90%TYRProtein interaction78%HPS4Protein interaction77%LRRK2Protein interaction71%MYO7AProtein interaction70%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
60%
Ovary
38%
Liver
21%
Heart
19%
Brain
7%
Gene Interaction Network
Click a node to explore
RAB38NCAPGANKRD27TYRHPS4LRRK2MYO7A
PROTEIN STRUCTURE
Preparing viewer…
PDB6HDU · 1.79 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.52–1.19]
RankingsWhere RAB38 stands among ~20K protein-coding genes
  • #10,533of 20,598
    Most Researched38
  • #12,477of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedRAB38
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Endogenous Rab38 regulates LRRK2's membrane recruitment and substrate Rab phosphorylation in melanocytes.
PMID: 37625589
J Biol Chem · 2023
1.00
2
PMID: 30060521
Int J Mol Sci · 2018
0.90
3
MiR-124 protects human hepatic L02 cells from H2O2-induced apoptosis by targeting Rab38 gene.
PMID: 24875359
Biochem Biophys Res Commun · 2014
0.80
4
Genetic susceptibility of hypertension-induced kidney disease.
PMID: 33377622
Physiol Rep · 2021
0.70
5
Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis.
PMID: 31399401
Blood Adv · 2019
0.60