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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MTMR3
myotubularin related protein 3
Chromosome 22 · 22q12.2
NCBI Gene: 8897Ensembl: ENSG00000100330.17HGNC: HGNC:7451UniProt: Q13615
81PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmmembraneprotein tyrosine phosphatase activityprotein bindingneurodegenerative diseaseAlzheimer diseaselysosomal storage diseasemultiple sclerosis
✦AI Summary

MTMR3 is a lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,5-bisphosphate, regulating both membrane trafficking and cell signaling 1234. Beyond its catalytic function, MTMR3 possesses molecular adaptor activity and regulates midbody abscission during cytokinesis 5. MTMR3 interacts with mTORC1 and suppresses its activity, modulating autophagy through PtdIns3P-dependent mechanisms 6. The protein participates in cancer cell migration and invasion by activating Rac1 GTPase through PtdIns5P production 7. In innate immunity, MTMR3 amplifies pattern recognition receptor-induced cytokine secretion by decreasing autophagy and increasing caspase-1 activation 8. Disease relevance: MTMR3 risk alleles associate with inflammatory bowel disease through enhanced innate immune responses 98, IgA nephropathy via increased TLR9-induced IgA immunity 10, and primary open-angle glaucoma as a protective factor 11. Elevated MTMR3 expression correlates with increased breast cancer risk 12. These findings highlight MTMR3's multifaceted role in autophagy, immunity, and cancer progression, making it a potential therapeutic target.

Sources cited
1
Beyond its catalytic function, MTMR3 possesses molecular adaptor activity and regulates midbody abscission during cytokinesis .
PMID: 25659891
2
MTMR3 interacts with mTORC1 and suppresses its activity, modulating autophagy through PtdIns3P-dependent mechanisms .
PMID: 26787466
3
The protein participates in cancer cell migration and invasion by activating Rac1 GTPase through PtdIns5P production .
PMID: 24840251
4
In innate immunity, MTMR3 amplifies pattern recognition receptor-induced cytokine secretion by decreasing autophagy and increasing caspase-1 activation .
PMID: 26240347
5
Disease relevance: MTMR3 risk alleles associate with inflammatory bowel disease through enhanced innate immune responses , , IgA nephropathy via increased TLR9-induced IgA immunity , and primary open-angle glaucoma as a protective factor .
PMID: 37414396
6
Disease relevance: MTMR3 risk alleles associate with inflammatory bowel disease through enhanced innate immune responses , , IgA nephropathy via increased TLR9-induced IgA immunity , and primary open-angle glaucoma as a protective factor .
PMID: 40459497
7
Elevated MTMR3 expression correlates with increased breast cancer risk .
PMID: 37910386
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
Alzheimer diseaseOpen Targets
0.53Moderate
lysosomal storage diseaseOpen Targets
0.50Moderate
multiple sclerosisOpen Targets
0.50Moderate
Parkinson diseaseOpen Targets
0.50Moderate
denturesOpen Targets
0.40Weak
dental cariesOpen Targets
0.33Weak
neuroinflammatory disorderOpen Targets
0.32Weak
inflammatory bowel diseaseOpen Targets
0.31Weak
lung carcinomaOpen Targets
0.29Weak
cataractOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.24Weak
vertebral disorderOpen Targets
0.24Weak
Abruptio PlacentaeOpen Targets
0.24Weak
hypothyroidismOpen Targets
0.23Weak
ulcerative colitisOpen Targets
0.23Weak
type 2 diabetes mellitusOpen Targets
0.23Weak
Uterine leiomyomaOpen Targets
0.23Weak
glaucomaOpen Targets
0.22Weak
vascular diseaseOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIKFYVEProtein interaction94%PIK3C3Protein interaction94%FIG4Protein interaction93%PIP4K2CProtein interaction93%PIP4K2AProtein interaction93%PIP4K2BProtein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
96%
Ovary
52%
Lung
47%
Heart
34%
Liver
25%
Gene Interaction Network
Click a node to explore
MTMR3PIKFYVEPIK3C3FIG4PIP4K2CPIP4K2APIP4K2B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q13615
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.30Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.16–0.30]
RankingsWhere MTMR3 stands among ~20K protein-coding genes
  • #5,878of 20,598
    Most Researched81
  • #1,168of 17,882
    Most Constrained (LOEUF)0.30 · top 10%
Genes detectedMTMR3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD.
PMID: 31286804
Autophagy · 2020
1.00
2
MTMR3 risk alleles enhance Toll Like Receptor 9-induced IgA immunity in IgA nephropathy.
PMID: 37414396
Kidney Int · 2023
0.90
3
Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Genes Associated With POAG.
PMID: 40459497
Invest Ophthalmol Vis Sci · 2025
0.80
4
Breast cancer risk is associated with the HULC rs7763881, MTMR3 rs12537 polymorphisms, and serum levels of HULC and MTMR3 in Egyptian patients.
PMID: 37910386
Mol Biol Rep · 2023
0.70
5
The PtdIns3-phosphatase MTMR3 interacts with mTORC1 and suppresses its activity.
PMID: 26787466
FEBS Lett · 2016
0.60