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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RABEPK
Rab9 effector protein with kelch motifs
Chromosome 9 · 9q33.3
NCBI Gene: 10244Ensembl: ENSG00000136933.18HGNC: HGNC:16896UniProt: A0A024R8A0
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingreceptor-mediated endocytosisvesicle docking involved in exocytosisendosomeAbnormality of the skeletal systemnicotine dependencecannabis dependencesmoking initiation
✦AI Summary

RABEPK (Rab9 effector protein with kelch motifs) functions as a Rab9 effector protein required for endosome to trans-Golgi network (TGN) transport, playing a critical role in vesicle docking and receptor-mediated endocytosis. The protein localizes to the cytosol, endosomes, and TGN membranes, where it mediates vesicle trafficking through protein-protein interactions. Beyond its canonical transport function, RABEPK has emerged as a genetically associated factor in complex neuropsychiatric and disease phenotypes. Genome-wide association studies identified intronic variants in RABEPK associated with opioid use disorder (OUD) in a cross-ancestry meta-analysis of 425,944 subjects 1. A separate GWAS meta-analysis of opioid addiction identified RABEPK within a significant gene cluster (SCAI/PPP6C/RABEPK) 2. Additionally, RABEPK was identified as a candidate gene in a unique family with developmental colour agnosia, suggesting potential involvement in higher-order cognitive functions 3. In cancer contexts, elevated RABEPK expression correlates with poor prognosis in colorectal cancer patients and shows association with drug resistance 4. RABEPK was also identified as a hub susceptibility gene for COVID-19 in lung adenocarcinoma patients 5 and showed differential expression patterns in response to Asian dust exposure 6. Notably, RABEPK maps within quantitative trait loci regions modulating prion disease incubation time 7, suggesting pleiotropic effects across neurological conditions.

Sources cited
1
RABEPK intronic variants identified in cross-ancestry GWAS meta-analysis of opioid use disorder (N=425,944)
PMID: 36171425
2
RABEPK identified in gene cluster (SCAI/PPP6C/RABEPK) associated with opioid addiction in GWAS
PMID: 39403933
3
RABEPK identified as candidate gene for developmental colour agnosia with indirect link to brain function
PMID: 37672513
4
Elevated RABEPK expression associated with poor prognosis and drug resistance in colorectal cancer
PMID: 38664314
5
RABEPK identified as hub susceptibility gene for COVID-19 in lung adenocarcinoma patients
PMID: 34840672
6
RABEPK showed differential expression patterns in response to Asian dust exposure
PMID: 24278502
7
RABEPK maps inside QTL regions modulating prion disease incubation time in mice; shows differential splicing
PMID: 17303092
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.33Weak
nicotine dependenceOpen Targets
0.30Weak
cannabis dependenceOpen Targets
0.26Weak
smoking initiationOpen Targets
0.25Weak
anxiety disorderOpen Targets
0.19Weak
chronic obstructive pulmonary diseaseOpen Targets
0.16Weak
opioid use disorderOpen Targets
0.15Weak
smoking cessationOpen Targets
0.12Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
substance-related disorderOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
infectionOpen Targets
0.09Suggestive
Hallux valgusOpen Targets
0.09Suggestive
upper respiratory tract disorderOpen Targets
0.09Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.08Suggestive
small cell lung carcinomaOpen Targets
0.08Suggestive
squamous cell carcinomaOpen Targets
0.08Suggestive
PainOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VAMP3Protein interaction85%RAB9AProtein interaction85%PLIN3Protein interaction85%TIMM21Protein interaction78%CCDC158Shared pathway50%MRC1Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Brain
34%
Heart
30%
Ovary
26%
Lung
25%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
RABEPKVAMP3RAB9APLIN3TIMM21CCDC158MRC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z6M1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.56–1.07]
RankingsWhere RABEPK stands among ~20K protein-coding genes
  • #13,499of 20,598
    Most Researched23
  • #10,828of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedRABEPK
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
An emerging multi-omic understanding of the genetics of opioid addiction.
PMID: 39403933
J Clin Invest · 2024
1.00
2
Identification of candidate genes for developmental colour agnosia in a single unique family.
PMID: 37672513
PLoS One · 2023
0.86
3
Cross-ancestry meta-analysis of opioid use disorder uncovers novel loci with predominant effects in brain regions associated with addiction.
PMID: 36171425
Nat Neurosci · 2022
0.71
4
Gene expression profiling on sheep brain reveals differential transcripts in scrapie-affected/not-affected animals.
PMID: 17303092
Brain Res · 2007
0.57
5
Identification of genes related to ribosomal proteins in colorectal cancer: exploring their potential as biomarkers, prognostic indicators, and therapeutic targets.
PMID: 38664314
Mol Biol Rep · 2024
0.43