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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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REEP4
receptor accessory protein 4
Chromosome 8 · 8p21.3
NCBI Gene: 80346Ensembl: ENSG00000168476.12HGNC: HGNC:26176UniProt: E5RGS2
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitotic nuclear membrane reassemblynuclear envelope organizationendoplasmic reticulumperipheral neuropathyneurodegenerative diseasemale reproductive system diseaseacute myeloid leukemia
✦AI Summary

REEP4 is a microtubule-binding endoplasmic reticulum (ER) protein essential for proper cell division and nuclear envelope organization. During mitosis, REEP4 functions as a major determinant of ER morphology by promoting ER tubulation through its reticulon homology domain, generating the high-curvature tubular structure characteristic of mitotic ER 1. REEP4 also clears ER membranes from metaphase chr8 to prevent interference with chromosome 8 1. As part of the conserved REEP1-REEP4 subfamily, REEP4 participates in reticulophagy—the selective autophagy of ER under stress conditions 2. Beyond mitotic functions, REEP4 regulates ER morphogenesis and remodeling with roles in diverse physiological processes 3. Clinically, REEP4 variants have been implicated in focal dystonia disorders. Genetic screening identified damaging REEP4 mutations in blepharospasm and Meige syndrome patients 45, though larger cohorts and functional studies are needed to confirm causation. In reproductive health, reduced REEP4 expression in older oocytes (≥35 years) correlates with age-related chromosome 8 and aneuploidy 6. In lower-grade glioma, elevated REEP4 expression associates with poor prognosis, enhanced cell cycle signaling, and increased immune checkpoint expression 7, suggesting potential as a prognostic biomarker and therapeutic target in cancer.

Sources cited
1
REEP4 determines ER tubular morphology during mitosis and clears ER from metaphase chromosomes
PMID: 30995177
2
REEP4 (as part of REEP1-REEP4 subfamily) is essential for reticulophagy and ER autophagy
PMID: 38163952
3
REEP family involved in ER morphogenesis, microtubule regulation, and multiple disease pathways
PMID: 36191880
4
REEP4 mutations detected in blepharospasm patients and suggested as candidate gene
PMID: 30956059
5
Damaging REEP4 variants identified in Meige syndrome and blepharospasm patients
PMID: 35044558
6
Reduced REEP4 expression in older oocytes correlates with age-related chromosome missegregation
PMID: 32178390
7
High REEP4 expression in lower-grade glioma associates with poor prognosis and immune checkpoint upregulation
PMID: 38552216
Disease Associationsⓘ20
peripheral neuropathyOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.23Weak
male reproductive system diseaseOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.15Weak
neoplasmOpen Targets
0.04Suggestive
cardiovascular diseaseOpen Targets
0.02Suggestive
inflammatory bowel diseaseOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
nervous system diseaseOpen Targets
0.01Suggestive
benign essential blepharospasmOpen Targets
0.01Suggestive
DystoniaOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
Blepharospasm - oromandibular dystoniaOpen Targets
0.00Suggestive
blepharospasm-oromandibular dystonia syndromeOpen Targets
0.00Suggestive
Martsolf syndromeOpen Targets
0.00Suggestive
myopathyOpen Targets
0.00Suggestive
nasopharyngeal carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATL3Protein interaction73%REEP3Shared pathway68%REEP2Protein interaction59%REEP1Protein interaction55%TMEM170AShared pathway50%BROXShared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
62%
Liver
34%
Ovary
23%
Brain
14%
Heart
11%
Gene Interaction Network
Click a node to explore
REEP4ATL3REEP3REEP2REEP1TMEM170ABROX
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H6H4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.52 [0.36–0.79]
RankingsWhere REEP4 stands among ~20K protein-coding genes
  • #8,362of 20,598
    Most Researched54
  • #6,467of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedREEP4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The REEP family of proteins: Molecular targets and role in pathophysiology.
PMID: 36191880
Pharmacol Res · 2022
1.00
2
REEPing the harvest of reticulophagy and nucleophagy.
PMID: 38163952
Autophagy · 2024
0.90
3
Blepharospasm: A genetic screening study in 132 patients.
PMID: 30956059
Parkinsonism Relat Disord · 2019
0.80
4
REEP3 and REEP4 determine the tubular morphology of the endoplasmic reticulum during mitosis.
PMID: 30995177
Mol Biol Cell · 2019
0.70
5
Potential value of expression of receptor accessory protein 4 for evaluating the prognosis of lower-grade glioma patients.
PMID: 38552216
Aging (Albany NY) · 2024
0.60