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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MTMR2
myotubularin related protein 2
Chromosome 11 Β· 11q21
NCBI Gene: 8898Ensembl: ENSG00000087053.20HGNC: HGNC:7450UniProt: A0A6Q8PGS5
71PubMed Papers
21Diseases
0Drugs
60Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of phosphatidylinositol dephosphorylationphosphatidylinositol-3,5-bisphosphate 3-phosphatase activitycytosolprotein bindingCharcot-Marie-Tooth disease type 4B1Charcot-Marie-Tooth disease type 4genetic disorderAbnormality of the skeletal system
✦AI Summary

MTMR2 is a lipid phosphatase that catalyzes dephosphorylation of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate at the D-3 position 12. This enzymatic activity regulates phosphoinositide levels critical for autophagy initiation and autophagosome maturation 3. MTMR2 functions as a negative regulator of autophagy; its selective degradation during mitochondrial stress enhances autophagosome biogenesis and mitophagy, promoting mitochondrial quality control in neurons 4. Loss-of-function mutations in MTMR2 cause autosomal recessive Charcot-Marie-Tooth disease type 4B1, a demyelinating peripheral neuropathy affecting endosomal membrane trafficking 56. Notably, MTMR2 exhibits tissue-specific enrichment in the peripheral nervous system during development 5. Beyond its genetic association with CMT4B, MTMR2 is aberrantly upregulated in multiple cancer types including hepatocellular carcinoma, NK/T cell lymphoma, and gastric cancer, where elevated expression correlates with poor prognosis and metastatic potential 789. Therapeutically, MTMR2 expression ameliorates myotubular myopathy caused by MTM1 mutations, suggesting potential for compensatory protein therapy in myopathies 10.

Sources cited
1
MTMR2 dephosphorylates D-3 position of PtdIns3P and PtdIns(3,5)P2
PMID: 11733541
2
MTMR2 lipid phosphatase activity on phosphoinositides
PMID: 12668758
3
MTMR2 regulates phosphoinositides for autophagy and autophagosome maturation
PMID: 35580604
4
MTMR2 is degraded during mitochondrial stress to enhance autophagy and mitophagy
PMID: 40783388
5
MTMR2 mutations cause CMT4B demyelinating neuropathy; tissue-specific expression in peripheral nervous system
PMID: 11867209
6
MTMR2 mutations implicated in Charcot-Marie-Tooth peripheral neuropathies via endosomal phosphoinositide dysregulation
PMID: 18429927
7
MTMR2 upregulation in hepatocellular carcinoma correlates with poor prognosis
PMID: 37907649
8
MTMR2 elevated in NK/T cell lymphoma; promotes metastasis via JAK1 pathway
PMID: 32767332
9
MTMR2 upregulation in gastric cancer promotes invasion and metastasis via IFNΞ³/STAT1 pathway
PMID: 31113461
10
MTMR2 expression rescues MTM1-associated myopathy phenotype
PMID: 28934386
Disease Associationsβ“˜21
Charcot-Marie-Tooth disease type 4B1Open Targets
0.77Strong
Charcot-Marie-Tooth disease type 4Open Targets
0.55Moderate
genetic disorderOpen Targets
0.50Moderate
Abnormality of the skeletal systemOpen Targets
0.42Moderate
substance-related disorderOpen Targets
0.39Weak
demyelinating hereditary motor and sensory neuropathyOpen Targets
0.37Weak
nephritisOpen Targets
0.31Weak
NephropathyOpen Targets
0.31Weak
ovarian dysfunctionOpen Targets
0.30Weak
cannabis dependenceOpen Targets
0.29Weak
opioid use disorderOpen Targets
0.29Weak
smoking initiationOpen Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.28Weak
nicotine dependenceOpen Targets
0.27Weak
osteoarthritis, hipOpen Targets
0.25Weak
osteoarthritis, kneeOpen Targets
0.24Weak
intelligenceOpen Targets
0.21Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.20Weak
ThromboembolismOpen Targets
0.18Weak
Epidermal Inclusion CystOpen Targets
0.18Weak
Charcot-Marie-Tooth disease, demyelinating, type 4B1UniProt
Pathogenic Variants60
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)Pathogenic
Charcot-Marie-Tooth disease type 4B1|Inborn genetic diseases|Charcot-Marie-Tooth disease type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 364
NM_016156.6(MTMR2):c.1882_1885dup (p.Ala629fs)Likely pathogenic
Charcot-Marie-Tooth disease type 4|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 629
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs)Pathogenic
Charcot-Marie-Tooth disease type 4|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 455
NM_016156.6(MTMR2):c.804+2T>GLikely pathogenic
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1
β˜…β˜…β˜†β˜†2024
NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer)Pathogenic
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1
β˜…β˜…β˜†β˜†2023β†’ Residue 154
NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)Pathogenic
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1
β˜…β˜…β˜†β˜†2023β†’ Residue 162
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)Pathogenic
Charcot-Marie-Tooth disease type 4B1|Charcot-Marie-Tooth disease type 4
β˜…β˜…β˜†β˜†2023β†’ Residue 256
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)Pathogenic
Charcot-Marie-Tooth disease type 4|Inborn genetic diseases
β˜…β˜…β˜†β˜†2023β†’ Residue 531
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)Pathogenic
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1
β˜…β˜…β˜†β˜†2020β†’ Residue 514
NM_016156.6(MTMR2):c.1479+1_1479+2delLikely pathogenic
Charcot-Marie-Tooth disease type 4
β˜…β˜†β˜†β˜†2025
NM_016156.6(MTMR2):c.1720G>T (p.Glu574Ter)Pathogenic
Charcot-Marie-Tooth disease type 4
β˜…β˜†β˜†β˜†2024β†’ Residue 574
NM_016156.6(MTMR2):c.934C>T (p.Gln312Ter)Pathogenic
Charcot-Marie-Tooth disease type 4
β˜…β˜†β˜†β˜†2024β†’ Residue 312
NM_016156.6(MTMR2):c.1693del (p.Tyr565fs)Pathogenic
Charcot-Marie-Tooth disease type 4
β˜…β˜†β˜†β˜†2024β†’ Residue 565
NM_016156.6(MTMR2):c.447_455del (p.Tyr149_Glu152delinsTer)Likely pathogenic
Charcot-Marie-Tooth disease type 4B1
β˜…β˜†β˜†β˜†2024β†’ Residue 149
NM_016156.6(MTMR2):c.357+1G>ALikely pathogenic
Charcot-Marie-Tooth disease type 4B1
β˜…β˜†β˜†β˜†2024
NM_016156.6(MTMR2):c.1327C>T (p.Arg443Ter)Likely pathogenic
Charcot-Marie-Tooth disease type 4B1
β˜…β˜†β˜†β˜†2024β†’ Residue 443
NM_016156.6(MTMR2):c.1474A>T (p.Arg492Ter)Pathogenic
Charcot-Marie-Tooth disease type 4
β˜…β˜†β˜†β˜†2024β†’ Residue 492
NM_016156.6(MTMR2):c.1862_1865dup (p.Thr623fs)Likely pathogenic
Charcot-Marie-Tooth disease type 4B1
β˜…β˜†β˜†β˜†2024β†’ Residue 623
NM_016156.6(MTMR2):c.187-2A>GLikely pathogenic
Charcot-Marie-Tooth disease type 4B1
β˜…β˜†β˜†β˜†2024
NM_016156.6(MTMR2):c.1232delinsGTCTT (p.Thr411fs)Likely pathogenic
Charcot-Marie-Tooth disease type 4B1
β˜…β˜†β˜†β˜†2024β†’ Residue 411
View on ClinVar β†—
Related Genes
SBF1Protein interaction99%MTMR12Protein interaction98%MTMR10Protein interaction97%PIK3R2Protein interaction95%PIKFYVEProtein interaction94%INPP4AProtein interaction93%
Tissue Expression6 tissues
Brain
100%
Heart
67%
Lung
41%
Ovary
40%
Bone Marrow
39%
Liver
11%
Gene Interaction Network
Click a node to explore
MTMR2SBF1MTMR12MTMR10PIK3R2PIKFYVEINPP4A
PROTEIN STRUCTURE
Preparing viewer…
PDB1ZSQ Β· 1.82 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.56–0.90]
RankingsWhere MTMR2 stands among ~20K protein-coding genes
  • #6,648of 20,598
    Most Researched71
  • #1,171of 5,498
    Most Pathogenic Variants60 Β· top quartile
  • #8,123of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedMTMR2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Mitochondrial damage triggers the concerted degradation of negative regulators of neuronal autophagy.
PMID: 40783388
Nat Commun Β· 2025
0.90
3
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
PMID: 11867209
Gene Β· 2002
0.80
4
An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma.
PMID: 37907649
Sci Rep Β· 2023
0.70
5
MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1.
PMID: 32767332
Eur Rev Med Pharmacol Sci Β· 2020
0.60