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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
REEP3
receptor accessory protein 3
Chromosome 10 Β· 10q21.3
NCBI Gene: 221035Ensembl: ENSG00000165476.15HGNC: HGNC:23711UniProt: Q6NUK4
35PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nuclear envelope organizationmitotic nuclear membrane reassemblyprotein bindingcytoplasmic microtubuleatrial fibrillationcholelithiasistype 2 diabetes mellitushypertension
✦AI Summary

REEP3 (receptor accessory protein 3) is a microtubule-binding protein that plays critical roles in endoplasmic reticulum (ER) morphology regulation and cell division. REEP3, along with REEP4, serves as a major determinant of ER tubular morphology during mitosis, specifically promoting ER tubulation through reticulon homology domains (RHDs) to generate the high-curvature morphology characteristic of mitotic ER 1. The protein functions to clear ER membranes from metaphase chr10 during mitosis, ensuring proper nuclear envelope reassembly 1. REEP3 belongs to an evolutionarily conserved protein family involved in ER morphogenesis, microtubule cytoskeleton regulation, and G protein-coupled receptor trafficking 2. Disease associations include potential roles in autism pathogenesis through position effects on gene expression 3, contributions to cisplatin resistance in osteosarcoma 4, and correlation with poor prognosis in pancreatic cancer where elevated expression associates with immune infiltration and unfavorable survival outcomes 5. REEP3 has also been identified as a risk locus in genome-wide association studies of IgA nephropathy 6 and migraine subtypes 7, suggesting broader involvement in various pathological processes.

Sources cited
1
REEP3/4 are major determinants of ER tubular morphology during mitosis and promote ER tubulation through RHDs
PMID: 30995177
2
REEP family involvement in ER morphogenesis, microtubule regulation, and GPCR trafficking
PMID: 36191880
3
REEP3 identified as candidate gene for autism through chromosomal breakpoint analysis
PMID: 17290275
4
REEP3 contributes to cisplatin resistance in osteosarcoma cells
PMID: 36408691
5
Elevated REEP3 expression correlates with poor prognosis and immune infiltration in pancreatic cancer
PMID: 38879709
6
REEP3 identified as genome-wide significant risk locus for IgA nephropathy
PMID: 37337107
7
REEP3 identified as cross-subtype gene in migraine GWAS analysis
PMID: 40826382
Disease Associationsβ“˜20
atrial fibrillationOpen Targets
0.46Moderate
cholelithiasisOpen Targets
0.39Weak
type 2 diabetes mellitusOpen Targets
0.35Weak
hypertensionOpen Targets
0.32Weak
substance-related disorderOpen Targets
0.31Weak
migraine disorderOpen Targets
0.31Weak
preeclampsiaOpen Targets
0.30Weak
major depressive disorderOpen Targets
0.30Weak
essential hypertensionOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.29Weak
skin agingOpen Targets
0.27Weak
retinal edemaOpen Targets
0.27Weak
information processing speedOpen Targets
0.25Weak
goutOpen Targets
0.25Weak
gallstonesOpen Targets
0.24Weak
osteoarthritis, hipOpen Targets
0.24Weak
Iron deficiency anemiaOpen Targets
0.23Weak
Intrahepatic cholestasis of pregnancyOpen Targets
0.23Weak
breast cancerOpen Targets
0.21Weak
venous thromboembolismOpen Targets
0.21Weak
Pathogenic Variants1
NC_000010.11:g.(?_59792917)_(68231677_?)delLikely pathogenic
Intellectual developmental disorder, autosomal dominant 70
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
JMJD1CProtein interaction90%ALPLProtein interaction76%REEP4Shared pathway68%TMEM170AShared pathway50%BROXShared pathway33%REEP2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
68%
Liver
62%
Lung
56%
Ovary
33%
Bone Marrow
15%
Gene Interaction Network
Click a node to explore
REEP3JMJD1CALPLREEP4TMEM170ABROXREEP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6NUK4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.18LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.66 [0.38–1.18]
RankingsWhere REEP3 stands among ~20K protein-coding genes
  • #11,053of 20,598
    Most Researched35
  • #5,217of 5,498
    Most Pathogenic Variants1
  • #12,427of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedREEP3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.
PMID: 37337107
Nat Genet Β· 2023
1.00
2
The REEP family of proteins: Molecular targets and role in pathophysiology.
PMID: 36191880
Pharmacol Res Β· 2022
0.90
3
Unveiling migraine subtype heterogeneity and risk loci: integrated genome-wide association study and single-cell transcriptomics discovery.
PMID: 40826382
J Headache Pain Β· 2025
0.80
4
REEP3 and REEP4 determine the tubular morphology of the endoplasmic reticulum during mitosis.
PMID: 30995177
Mol Biol Cell Β· 2019
0.70
5
Identification of genes contributing to cisplatin resistance in osteosarcoma cells.
PMID: 36408691
FEBS Open Bio Β· 2023
0.60