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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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REP15
RAB15 effector protein
Chromosome 12 · 12p11.22
NCBI Gene: 387849Ensembl: ENSG00000174236.4HGNC: HGNC:33748UniProt: Q6BDI9
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingreceptor recyclingtransferrin transportendosome membranetype 2 diabetes mellitusmelorheostosismelorheostosis with osteopoikilosis12q14 microdeletion syndrome
✦AI Summary

REP15 (RAB15 effector protein) is a GTPase effector that interacts with active, GTP-bound RAB15 and other Rab proteins including RAB3A-D and RAB34 1. Its primary function is regulating transferrin receptor recycling from the endocytic recycling compartment, a specialized compartment distinct from sorting endosomes 2. REP15 localizes specifically to endocytic recycling compartments and directly binds Rab15-GTP but not other Rab isoforms, enabling compartment-specific control of slow receptor recycling pathways 2. Beyond membrane trafficking, REP15 modulates downstream signaling including cell proliferation and migration 1. Clinically, REP15 dysregulation associates with colorectal cancer pathogenesis, identified as a prognosis-related driving gene in multi-omics analyses 3. Additionally, REP15 emerges as a candidate gene for Kallmann syndrome combined with intellectual disability when subject to dosage alterations 45, though causal roles require confirmation through targeted sequencing. The compartment-specific nature of REP15 function highlights mechanistically distinct endocytic recycling pathways and represents a potential therapeutic target in cancer and neurodevelopmental disorders.

Sources cited
1
REP15 is a compartment-specific Rab15 effector protein that regulates transferrin receptor recycling from the endocytic recycling compartment via direct Rab15-GTP binding
PMID: 16195351
2
REP15 interacts with active Rab GTPases (RAB15, RAB3A-D, RAB34) and controls cell proliferation, cell migration, and transferrin receptor recycling
PMID: 35871249
3
REP15 was identified as a novel prognosis-related driving gene for colorectal cancer through multi-omics analysis
PMID: 32573269
4
REP15 is a candidate gene for Kallmann syndrome combined with intellectual disability when subject to dosage alterations in the 12p11.21-12p11.23 region
PMID: 37034680
5
REP15 is identified as a candidate gene for Kallmann syndrome with intellectual disability based on copy number variation analysis and expression patterns in relevant tissues
PMID: 37563198
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.05Suggestive
melorheostosisOpen Targets
0.05Suggestive
melorheostosis with osteopoikilosisOpen Targets
0.05Suggestive
12q14 microdeletion syndromeOpen Targets
0.04Suggestive
pyknoachondrogenesisOpen Targets
0.04Suggestive
Dentin dysplasia - sclerotic bonesOpen Targets
0.04Suggestive
dentin dysplasia-sclerotic bones syndromeOpen Targets
0.04Suggestive
osteomesopyknosisOpen Targets
0.04Suggestive
dentin dysplasiaOpen Targets
0.04Suggestive
Dacryocystitis - osteopoikilosisOpen Targets
0.04Suggestive
dacryocystitis-osteopoikilosis syndromeOpen Targets
0.04Suggestive
osteoporosisOpen Targets
0.04Suggestive
postmenopausal osteoporosisOpen Targets
0.04Suggestive
lymphatic system diseaseOpen Targets
0.04Suggestive
Varicose veinsOpen Targets
0.04Suggestive
vein disorderOpen Targets
0.04Suggestive
gnathodiaphyseal dysplasiaOpen Targets
0.04Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.04Suggestive
biliary tract diseaseOpen Targets
0.03Suggestive
ParalysisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB3CProtein interaction92%RAB3BProtein interaction91%RAB15Protein interaction88%ETFBKMTCo-mentioned in literature33%LMTK2Shared pathway25%PLEKHJ1Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Liver
54%
Ovary
40%
Brain
34%
Lung
29%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
REP15RAB3CRAB3BRAB15ETFBKMTLMTK2PLEKHJ1
PROTEIN STRUCTURE
Preparing viewer…
PDB8A4A · 2.52 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.87LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF1.10 [0.52–1.87]
RankingsWhere REP15 stands among ~20K protein-coding genes
  • #17,696of 20,598
    Most Researched8
  • #17,010of 17,882
    Most Constrained (LOEUF)1.87
Genes detectedREP15
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Rab15 effector protein: a novel protein for receptor recycling from the endocytic recycling compartment.
PMID: 16195351
Mol Biol Cell · 2005
1.00
2
Multi-omics analysis to identify driving factors in colorectal cancer.
PMID: 32573269
Epigenomics · 2020
0.89
3
Genomic characterization of methicillin-resistant Staphylococcus aureus isolated from patients attending regional referral hospitals in Tanzania.
PMID: 39143496
BMC Med Genomics · 2024
0.78
4
Genetic characterization of two methicillin-resistant Staphylococcus aureus spa type t127 strains isolated from workers in the dairy production chain in Greece.
PMID: 34133323
Acta Microbiol Immunol Hung · 2021
0.67
5
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
PMID: 37034680
Res Sq · 2023
0.56