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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MTMR6
myotubularin related protein 6
Chromosome 13 · 13q12.13
NCBI Gene: 9107Ensembl: ENSG00000139505.13HGNC: HGNC:7453UniProt: A0A9L9PXJ0
65PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphatidylinositol-3-phosphate phosphatase activityprotein bindingphosphatidylinositol-3,5-bisphosphate phosphatase activityphosphatidylinositol dephosphorylationneurodegenerative diseaseAlzheimer diseasemultiple sclerosislysosomal storage disease
✦AI Summary

MTMR6 is a lipid phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate at the D-3 position, generating phosphatidylinositol and phosphatidylinositol 5-phosphate 1. The enzyme exhibits high binding affinity for PI3P, PI(3,5)P2, and other phospholipids including phosphatidic acid and phosphatidylserine 1. MTMR6 functions through formation of heteromeric complexes, particularly with the catalytically inactive MTMR9, which stabilizes both proteins and increases MTMR6 phosphatase activity up to 84-fold 1. The protein negatively regulates Ca2+-activated K+ channel KCa3.1 activity in CD4+ T-cells by depleting intracellular PI3P levels, requiring both coiled-coil and PH/GRAM domains for proper localization and channel inhibition 2. MTMR6 plays crucial roles in cellular processes including autophagy regulation by maintaining autophagic flux 3, DNA damage-induced apoptosis suppression when complexed with MTMR9 1, and immune regulation through TLR2-mediated pathways in macrophages during Leishmania infection 4. Clinically, MTMR6 represents a potential therapeutic target for visceral leishmaniasis, as its silencing reduces parasite load and enhances protective immune responses 5. The protein has also been implicated in pancreatic cancer susceptibility and shows altered expression patterns in smoking-related brain changes 67.

Sources cited
1
MTMR6 is a lipid phosphatase that dephosphorylates PI3P and PI(3,5)P2, forms complexes with MTMR9, and regulates apoptosis
PMID: 19038970
2
MTMR6 negatively regulates KCa3.1 channels and requires specific domains for proper localization
PMID: 16914545
3
MTMR6 regulates autophagy by maintaining autophagic flux
PMID: 32915229
4
MTMR6 is a TLR2-modulated ion channel-associated phosphatase involved in Leishmania infection
PMID: 38330797
5
MTMR6 silencing protects against Leishmania infection and represents a therapeutic target
PMID: 38295542
6
MTMR6 is associated with pancreatic cancer susceptibility
PMID: 39002386
7
MTMR6 shows altered DNA methylation in smoking-related brain changes
PMID: 32731254
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
Alzheimer diseaseOpen Targets
0.50Moderate
lysosomal storage diseaseOpen Targets
0.50Moderate
multiple sclerosisOpen Targets
0.50Moderate
Parkinson diseaseOpen Targets
0.50Moderate
melanomaOpen Targets
0.16Weak
neuroinflammatory disorderOpen Targets
0.14Weak
poisoningOpen Targets
0.06Suggestive
head and neck malignant neoplasiaOpen Targets
0.06Suggestive
oral squamous cell carcinomaOpen Targets
0.04Suggestive
osteoporosisOpen Targets
0.04Suggestive
postmenopausal osteoporosisOpen Targets
0.04Suggestive
melorheostosisOpen Targets
0.03Suggestive
Respiratory insufficiencyOpen Targets
0.03Suggestive
hair colorOpen Targets
0.03Suggestive
pyknoachondrogenesisOpen Targets
0.03Suggestive
musculoskeletal system diseaseOpen Targets
0.02Suggestive
pyogenic granulomaOpen Targets
0.02Suggestive
pernicious anemiaOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PI4KBProtein interaction99%PIKFYVEProtein interaction94%PIK3C3Protein interaction94%INPP4AProtein interaction94%PIK3C2BProtein interaction94%PIK3C2GProtein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
71%
Heart
64%
Lung
33%
Liver
25%
Ovary
23%
Gene Interaction Network
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MTMR6PI4KBPIKFYVEPIK3C3INPP4APIK3C2BPIK3C2G
PROTEIN STRUCTURE
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PDB2YF0 · 2.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.48–0.80]
RankingsWhere MTMR6 stands among ~20K protein-coding genes
  • #7,187of 20,598
    Most Researched65
  • #6,655of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedMTMR6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Myotubularin-related protein 6 is an ion channel-associated pro-leishmanial phosphatase.
PMID: 38330797
Int Immunopharmacol · 2024
1.00
2
Interplay between myotubularins and Ca
PMID: 38710289
Biochim Biophys Acta Mol Cell Res · 2024
0.90
3
Myotubularin-related protein-6 silencing protects mice from Leishmania donovani infection.
PMID: 38295542
Int Immunopharmacol · 2024
0.80
4
Specificity of the myotubularin family of phosphatidylinositol-3-phosphatase is determined by the PH/GRAM domain.
PMID: 16914545
J Biol Chem · 2006
0.70
5
MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis.
PMID: 19038970
J Biol Chem · 2009
0.60