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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RMDN3
regulator of microtubule dynamics 3
Chromosome 15 · 15q15.1
NCBI Gene: 55177Ensembl: ENSG00000137824.17HGNC: HGNC:25550UniProt: Q96TC7
97PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intracellular calcium ion homeostasismitochondrionmitochondrial outer membranespindle microtubuleneurodegenerative diseaseprostate carcinomaprostate cancermultinodular goiter
✦AI Summary

RMDN3 (regulator of microtubule dynamics 3) functions as a critical tethering protein that facilitates communication between the endoplasmic reticulum (ER) and mitochondria. The protein localizes to the mitochondrial outer membrane and forms part of the VAPB-PTPIP51 tethering complex, where RMDN3 is also known as PTPIP51 1. This tethering function is essential for maintaining mitochondria-associated membranes (MAMs) that regulate calcium homeostasis, lipid metabolism, and cellular survival pathways 2. Under oxidative stress conditions, RMDN3 undergoes phosphorylation that enhances ER-mitochondria contacts and enables the transfer of lipid radicals from mitochondria to the ER, thereby reducing mitochondrial oxidative damage and preventing cell death 3. The VAPB-PTPIP51 interaction also regulates autophagy by controlling calcium delivery from ER stores to mitochondria 4. Disruption of RMDN3/PTPIP51 function has clinical significance in neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, frontotemporal dementia, and amyotrophic lateral sclerosis, where impaired ER-mitochondria signaling contributes to disease pathology 5. Additionally, RMDN3 has been implicated in melanoma susceptibility and early embryonic development 67.

Sources cited
1
RMDN3 is a determinant of ER-mitochondria proximity in Purkinje cells and localizes to mitochondrial outer membrane
PMID: 31501572
2
RMDN3/PTPIP51 forms tethering complex with VAPB to create MAMs that regulate calcium homeostasis and lipid metabolism
PMID: 38719161
3
RMDN3 phosphorylation increases ER-mitochondria contacts and facilitates lipid radical transfer from mitochondria to ER under oxidative stress
PMID: 39929810
4
VAPB-PTPIP51 tethers regulate autophagy through their role in mediating calcium delivery to mitochondria from ER stores
PMID: 28132811
5
VAPB-PTPIP51 interaction is disrupted in neurodegenerative diseases including Alzheimer's, Parkinson's, FTD and ALS
PMID: 40045432
6
CYP1B1/RMDN3 locus is associated with multiple primary melanoma susceptibility
PMID: 40036058
7
RMDN3 may regulate microtubule formation in early embryonic arrest development
PMID: 30776465
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
prostate carcinomaOpen Targets
0.23Weak
prostate cancerOpen Targets
0.19Weak
multinodular goiterOpen Targets
0.12Weak
benign neoplasm of eyeOpen Targets
0.07Suggestive
amyotrophic lateral sclerosisOpen Targets
0.06Suggestive
nontoxic goiterOpen Targets
0.06Suggestive
infectionOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
cystic fibrosisOpen Targets
0.05Suggestive
skin basal cell carcinomaOpen Targets
0.05Suggestive
lower respiratory tract diseaseOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
squamous cell carcinomaOpen Targets
0.04Suggestive
mathematical abilityOpen Targets
0.04Suggestive
essential hypertensionOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OSBPL5Protein interaction99%OSBPL8Protein interaction99%PTPN1Protein interaction96%VDAC1Protein interaction96%MFN1Protein interaction94%MOSPD2Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
81%
Lung
70%
Brain
62%
Ovary
46%
Heart
42%
Gene Interaction Network
Click a node to explore
RMDN3OSBPL5OSBPL8PTPN1VDAC1MFN1MOSPD2
PROTEIN STRUCTURE
Preparing viewer…
PDB7CC7 · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.47–0.80]
RankingsWhere RMDN3 stands among ~20K protein-coding genes
  • #4,963of 20,598
    Most Researched97 · top quartile
  • #6,679of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedRMDN3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cell-type-specific profiling of brain mitochondria reveals functional and molecular diversity.
PMID: 31501572
Nat Neurosci · 2019
1.00
2
Modulation of ER-mitochondria tethering complex VAPB-PTPIP51: Novel therapeutic targets for aging-associated diseases.
PMID: 38719161
Ageing Res Rev · 2024
0.90
3
ER-mitochondria contacts mediate lipid radical transfer via RMDN3/PTPIP51 phosphorylation to reduce mitochondrial oxidative stress.
PMID: 39929810
Nat Commun · 2025
0.80
4
Association of Inherited Genetic Variants with Multiple Primary Melanoma.
PMID: 40036058
Cancer Epidemiol Biomarkers Prev · 2025
0.70
5
Structural and functional studies of the VAPB-PTPIP51 ER-mitochondria tethering proteins in neurodegenerative diseases.
PMID: 40045432
Acta Neuropathol Commun · 2025
0.60