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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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REEP5
receptor accessory protein 5
Chromosome 5 · 5q22.2
NCBI Gene: 7905Ensembl: ENSG00000129625.14HGNC: HGNC:30077UniProt: Q00765
81PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum tubular networkendoplasmic reticulumprotein bindingendoplasmic reticulum organizationfamilial adenomatous polyposis 1Alzheimer diseaseParkinson diseaseneurodegenerative disease
✦AI Summary

REEP5 (receptor accessory protein 5) is an endoplasmic reticulum (ER) membrane-shaping protein that plays multifaceted roles in cellular homeostasis and disease pathophysiology. Structurally, REEP5 belongs to the REEP5-6 subfamily of membrane curvature-generating proteins 1 and functions as an ER tubule-shaping protein 2. Primary mechanistically, REEP5 regulates ER morphogenesis and organization in cardiomyocytes, where it is enriched 3. REEP5 depletion causes SR/ER membrane destabilization, luminal vacuolization, decreased myocyte contractility, and disrupted calcium cycling 3. Beyond ER organization, REEP5 mediates mitochondrial-ER membrane contact sites (MERCs) by dynamically interacting with Mitofusins 1/2, enabling mitochondrial "hitchhiking" on tubular ER and regulating mitochondrial reactive oxygen species production 2. REEP5 also functions as a GPCR accessory protein, enhancing CXCR1-mediated cellular responses and regulating receptor endocytosis 4. Clinically, REEP5 dysfunction associates with cardiac disease pathophysiology 1. REEP5 gene polymorphisms influence antidepressant treatment response in major depression disorder 5. Additionally, the REEP5/TRAM1 complex interacts with SARS-CoV-2 NSP3 and promotes viral replication 6, and REEP5 participates in ER-phagy pathways relevant to liver fibrosis 7.

Sources cited
1
REEP5 belongs to REEP5-6 subfamily and is involved in ER morphogenesis, cardiac diseases, and other pathophysiological processes
PMID: 36191880
2
REEP5 is cardiac-enriched and essential for SR/ER organization; its depletion causes vacuolization, reduced contractility, and disrupted calcium cycling
PMID: 32075961
3
REEP5 is an ER tubule-shaping protein that interacts with Mitofusins to mediate mitochondrial-ER tethering and regulate mitochondrial ROS
PMID: 39133213
4
REEP5 functions as a GPCR accessory protein, enhancing CXCR1 responses and regulating ligand-stimulated receptor endocytosis
PMID: 27966653
5
REEP5 gene polymorphisms associate with antidepressant treatment response in major depression disorder
PMID: 22795047
6
REEP5/TRAM1 complex interacts with SARS-CoV-2 NSP3 and promotes viral replication
PMID: 37768083
7
REEP5 participates in ER-phagy pathways relevant to alleviating endoplasmic reticulum stress in liver fibrosis
PMID: 40154686
Disease Associationsⓘ20
familial adenomatous polyposis 1Open Targets
0.42Moderate
Alzheimer diseaseOpen Targets
0.31Weak
Parkinson diseaseOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.30Weak
multiple sclerosisOpen Targets
0.30Weak
lysosomal storage diseaseOpen Targets
0.30Weak
aortic valve stenosisOpen Targets
0.27Weak
triple-negative breast cancerOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
achalasia-alacrima syndromeOpen Targets
0.07Suggestive
infectionOpen Targets
0.05Suggestive
Miyoshi myopathyOpen Targets
0.04Suggestive
myocardial infarctionOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
ArthropathyOpen Targets
0.04Suggestive
pulmonary arterial hypertensionOpen Targets
0.04Suggestive
Townes-Brocks syndromeOpen Targets
0.04Suggestive
joint diseaseOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MSH2Protein interaction100%MSH6Protein interaction100%RTN3Protein interaction99%PFASProtein interaction92%ATL1Protein interaction85%RTN1Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Heart
99%
Liver
44%
Lung
33%
Ovary
29%
Bone Marrow
17%
Gene Interaction Network
Click a node to explore
REEP5MSH2MSH6RTN3PFASATL1RTN1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q00765
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.72–1.46]
RankingsWhere REEP5 stands among ~20K protein-coding genes
  • #5,888of 20,598
    Most Researched81
  • #14,924of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedREEP5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The membrane curvature-inducing REEP1-4 proteins generate an ER-derived vesicular compartment.
PMID: 39368994
Nat Commun · 2024
1.00
2
The REEP family of proteins: Molecular targets and role in pathophysiology.
PMID: 36191880
Pharmacol Res · 2022
0.90
3
Dynamic interaction of REEP5-MFN1/2 enables mitochondrial hitchhiking on tubular ER.
PMID: 39133213
J Cell Biol · 2024
0.80
4
The accessory proteins REEP5 and REEP6 refine CXCR1-mediated cellular responses and lung cancer progression.
PMID: 27966653
Sci Rep · 2016
0.70
5
Association of APC and REEP5 gene polymorphisms with major depression disorder and treatment response to antidepressants in a Han Chinese population.
PMID: 22795047
Gen Hosp Psychiatry · 2012
0.60