HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MTMR4
myotubularin related protein 4
Chromosome 17 · 17q22
NCBI Gene: 9110Ensembl: ENSG00000108389.10HGNC: HGNC:7452UniProt: A0A804HJV7
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphatidylinositol-3-phosphate phosphatase activityendosome membranemembraneearly phagosome membraneneurodegenerative diseaseintelligenceatrial fibrillationrefractive error
✦AI Summary

MTMR4 is a lipid phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate, converting them to phosphatidylinositol and phosphatidylinositol 5-phosphate 1. This activity negatively regulates endocytic recycling, endosomal trafficking, and lysosomal maturation by reducing PI3P levels on endosomal membranes 1. MTMR4 dynamically localizes to phagosomes and regulates their maturation by controlling PI3P degradation; MTMR4 overexpression inhibits FcγR-mediated phagocytosis, while knockdown enhances phagosomal maturation and bacterial degradation 2. In innate immunity, MTMR4 suppresses DNA-mediated immune responses by modulating PI3P-dependent STING trafficking in endosomal compartments 3. Beyond lipid phosphatase activity, MTMR4 functions as a molecular adapter regulating mitotic cytokinesis and negatively modulates BMP/Smad signaling through R-Smad dephosphorylation 4. Recently, RAF1 kinase phosphorylation of MTMR4 at autolysosomes was identified as critical for autophagic lysosome reformation and autophagy regulation 5. Clinically, MTMR4 polymorphisms associate with plasma cholesterol levels, and altered MTMR4 expression correlates with thoracic aortic aneurysm and atherosclerosis pathology 67.

Sources cited
1
MTMR4 is a myotubularin-related phosphatase that dephosphorylates PI3P and PI3,5P2 at the D3 position, regulating endosomal trafficking and autophagy
PMID: 25195910
2
MTMR4 regulates phagosomal PI3P turnover and controls phagocytosis and phagosomal maturation in macrophages
PMID: 31543504
3
MTMR4 negatively regulates innate immune responses to DNA by modulating STING trafficking through PI3P metabolism
PMID: 30944173
4
MTMR4 dephosphorylates activated R-Smads and negatively regulates BMP/Dpp signaling
PMID: 23150675
5
RAF1 kinase phosphorylates MTMR4 at autolysosomes to regulate autophagic lysosome reformation and autophagy
PMID: 40184255
6
MTMR4 polymorphisms associate with plasma cholesterol levels and lipid profiles
PMID: 19329342
7
MTMR4 expression is altered in thoracic aortic aneurysm and represents a potential therapeutic target
PMID: 32678444
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
intelligenceOpen Targets
0.10Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
refractive errorOpen Targets
0.06Suggestive
hypertensionOpen Targets
0.04Suggestive
tooth eruptionOpen Targets
0.04Suggestive
Ischemic strokeOpen Targets
0.04Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
Åland Islands eye diseaseOpen Targets
0.03Suggestive
prostate carcinomaOpen Targets
0.02Suggestive
gliomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
pulmonary tuberculosisOpen Targets
0.01Suggestive
AtrophyOpen Targets
0.01Suggestive
familial long QT syndromeOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
esophageal cancerOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMAD3Protein interaction100%PI4K2AProtein interaction94%PIKFYVEProtein interaction94%PIK3C3Protein interaction94%PIP4K2CProtein interaction93%PIP4P1Protein interaction92%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
59%
Brain
48%
Ovary
39%
Heart
33%
Lung
29%
Gene Interaction Network
Click a node to explore
MTMR4SMAD3PI4K2APIKFYVEPIK3C3PIP4K2CPIP4P1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NYA4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.16–0.29]
RankingsWhere MTMR4 stands among ~20K protein-coding genes
  • #9,483of 20,598
    Most Researched45
  • #1,103of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedMTMR4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Crystallization and preliminary X-ray crystallographic analysis of the PH-GRAM domain of human MTMR4.
PMID: 25195910
Acta Crystallogr F Struct Biol Commun · 2014
1.00
2
RAF1 kinase contributes to autophagic lysosome reformation.
PMID: 40184255
Cell Rep · 2025
0.90
3
The myotubularin MTMR4 regulates phagosomal phosphatidylinositol 3-phosphate turnover and phagocytosis.
PMID: 31543504
J Biol Chem · 2019
0.80
4
PtdIns3P phosphatases MTMR3 and MTMR4 negatively regulate innate immune responses to DNA through modulating STING trafficking.
PMID: 30944173
J Biol Chem · 2019
0.70
5
MicroRNAs in ascending thoracic aortic aneurysms.
PMID: 32678444
Biosci Rep · 2020
0.60