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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MTMR14
myotubularin related protein 14
Chromosome 3 · 3p25.3
NCBI Gene: 64419Ensembl: ENSG00000163719.21HGNC: HGNC:26190UniProt: Q8NCE2
56PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphatidylinositol-3-phosphate phosphatase activityruffleperinuclear region of cytoplasmphosphatidylinositol-3,5-bisphosphate 3-phosphatase activityneurodegenerative diseaseParkinson diseasemultiple sclerosislysosomal storage disease
✦AI Summary

MTMR14 is a lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate at the D-3 position 1, regulating phosphoinositide-dependent cellular processes. The protein localizes to the cytosol and perinuclear region, where it modulates macroautophagy and inflammation 2. MTMR14 suppresses cardiac hypertrophy by inhibiting the Akt signaling pathway 3, and negatively regulates pro-inflammatory M1 macrophage polarization through PI3K/Akt and NF-κB pathways, thereby mitigating COPD progression 45. The protein also participates in Ca2+ homeostasis, a function relevant to myopathy pathogenesis 1. Clinically, mutations in MTMR14 are associated with centronuclear myopathy type 1, a congenital neuromuscular disorder characterized by centrally positioned nuclei in muscle fibers 6. Additionally, MTMR14 overexpression in liver cancer promotes cell survival and migration via modulation of cadherins and suppression of mitochondrial apoptotic pathways 7. MTMR14 expression is regulated by the ubiquitin-proteasome system via TRIM21-mediated degradation 4. These diverse functions position MTMR14 as a multifunctional regulator with therapeutic potential in neuromuscular, cardiovascular, pulmonary, and oncologic diseases.

Sources cited
1
MTMR14 is a member of the myotubularin family that dephosphorylates PtdIns(3)P and PtdIns(3,5)P2 and contributes to Ca2+ homeostasis
PMID: 38710289
2
MTMR14 plays a role in autophagy regulation as demonstrated by dysregulation of autophagy and LC3-II accumulation upon MTMR14 knockdown
PMID: 20595810
3
MTMR14 suppresses cardiac hypertrophy by inhibiting the Akt pathway
PMID: 32080168
4
MTMR14 negatively regulates M1 macrophage polarization through PI3K/Akt and NF-κB pathways in COPD and is regulated by TRIM21-mediated ubiquitin-proteasome degradation
PMID: 40640787
5
MTMR14 overexpression alleviates COPD by improving mitochondrial function and mitophagy homeostasis while reducing inflammation
PMID: 35035670
6
MTMR14 mutations are associated with centronuclear myopathy type 1, a congenital neuromuscular disorder with centrally placed nuclei on muscle biopsy
PMID: 18817572
7
MTMR14 is overexpressed in liver cancer and promotes cell survival and migration through regulation of cadherins and mitochondrial apoptotic pathways
PMID: 30586604
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.48Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
autosomal dominant centronuclear myopathyOpen Targets
0.42Moderate
neuroinflammatory disorderOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.28Weak
crush injuryOpen Targets
0.22Weak
liver diseaseOpen Targets
0.21Weak
chronic obstructive pulmonary diseaseOpen Targets
0.09Suggestive
Chédiak-Higashi syndromeOpen Targets
0.07Suggestive
azoospermiaOpen Targets
0.06Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.05Suggestive
pentosuriaOpen Targets
0.05Suggestive
spinocerebellar ataxia type 32Open Targets
0.04Suggestive
emphysemaOpen Targets
0.04Suggestive
spermatogenic failure 65Open Targets
0.04Suggestive
spermatogenic failure 84Open Targets
0.04Suggestive
spermatogenic failure 93Open Targets
0.04Suggestive
Myopathy, centronuclear, 1UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIKFYVEProtein interaction94%PIK3C3Protein interaction94%PIP4K2CProtein interaction93%PIP4K2AProtein interaction93%PIP4P2Protein interaction93%PIP4P1Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
87%
Lung
87%
Liver
54%
Ovary
49%
Brain
28%
Gene Interaction Network
Click a node to explore
MTMR14PIKFYVEPIK3C3PIP4K2CPIP4K2APIP4P2PIP4P1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8NCE2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.42–0.68]
RankingsWhere MTMR14 stands among ~20K protein-coding genes
  • #8,108of 20,598
    Most Researched56
  • #5,073of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedMTMR14
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
MTMR14 depletion aggravates intrapulmonary inflammation and emphysema in experimental COPD through activating macrophage M1 polarization.
PMID: 40640787
Respir Res · 2025
0.90
3
Centronuclear (myotubular) myopathy.
PMID: 18817572
Orphanet J Rare Dis · 2008
0.80
4
Myotubularin-related protein 14 suppresses cardiac hypertrophy by inhibiting Akt.
PMID: 32080168
Cell Death Dis · 2020
0.70
5
Interplay between myotubularins and Ca
PMID: 38710289
Biochim Biophys Acta Mol Cell Res · 2024
0.60