HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MTMR7
myotubularin related protein 7
Chromosome 8 · 8p22
NCBI Gene: 9108Ensembl: ENSG00000003987.15HGNC: HGNC:7454UniProt: B7Z9Q7
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein bindingcytoplasmphosphatidylinositol-3,5-bisphosphate phosphatase activityneurodegenerative diseaseinsomniaspermatocelespondylolisthesis
✦AI Summary

MTMR7 (myotubularin-related protein 7) is a lipid phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3-bisphosphate, with a preference for water-soluble substrates 1. The protein localizes to Golgi-like granules and cytosol, and forms functional complexes with MTMR9, which enhances its phosphatase activity 1. MTMR7 functions as a tumor suppressor by inhibiting PI3K/AKT and ERK1/2 signaling pathways downstream of growth factor receptors 2. In reproductive biology, MTMR7 maintains spermatogonial stem cell homeostasis by preventing excessive proliferation through PI3K/AKT pathway inhibition 3 and regulates human spermatogonial stem cell proliferation and migration via FLNB-mediated β-catenin signaling 4. Additionally, MTMR7 directly binds and inhibits mutant K-RAS (G12V), reducing RAS GTPase activity and downstream oncogenic signaling 5. Recent findings identify MTMR7 as a novel STIM1-binding protein, linking phosphoinositide metabolism to store-operated calcium entry 6. Clinically, MTMR7 expression is reduced in colorectal cancer with advancing tumor grade and stage, and has been implicated as a genetic modifier in prion diseases 27.

Sources cited
1
MTMR7 dephosphorylates PtdIns(3)P and Ins(1,3)P2, localizes to Golgi and cytosol, and forms complexes with MTMR9
PMID: 12890864
2
MTMR7 acts as tumor suppressor by inhibiting PI3K/AKT and ERK1/2 signaling, expression decreases with colorectal cancer progression
PMID: 27409167
3
MTMR7 maintains spermatogonial stem cell homeostasis by inhibiting PI3K/AKT signaling
PMID: 31478454
4
MTMR7 regulates human spermatogonial stem cell proliferation and migration via FLNB-β-catenin signaling
PMID: 40638605
5
MTMR7 directly binds and inhibits mutant K-RAS (G12V), reducing RAS GTPase activity
PMID: 38462034
6
MTMR7 is a novel STIM1-binding protein linking phosphoinositide signaling to store-operated calcium entry
PMID: 40327889
7
MTMR7 identified as genetic modifier locus in prion diseases
PMID: 23518043
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
insomniaOpen Targets
0.30Weak
spermatoceleOpen Targets
0.27Weak
spondylolisthesisOpen Targets
0.23Weak
metabolic diseaseOpen Targets
0.22Weak
colorectal carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
orofacial cleftOpen Targets
0.05Suggestive
Parkinson diseaseOpen Targets
0.05Suggestive
Genu valgumOpen Targets
0.03Suggestive
Genu varumOpen Targets
0.03Suggestive
lung carcinomaOpen Targets
0.03Suggestive
Lewy body dementiaOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
adenomaOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
Pallister-Hall syndromeOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
pulmonary hypertensionOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIKFYVEProtein interaction94%PIK3C3Protein interaction94%CDIPTProtein interaction92%INPP4AProtein interaction91%PIK3C2GProtein interaction91%INPP4BProtein interaction91%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
24%
Ovary
16%
Liver
10%
Lung
6%
Heart
5%
Gene Interaction Network
Click a node to explore
MTMR7PIKFYVEPIK3C3CDIPTINPP4APIK3C2GINPP4B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y216
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.76–1.12]
RankingsWhere MTMR7 stands among ~20K protein-coding genes
  • #13,245of 20,598
    Most Researched24
  • #11,561of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedMTMR7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MTMR7 regulates human spermatogonial stem cells proliferation and migration via targeting FLNB.
PMID: 40638605
PLoS One · 2025
1.00
2
Myotubularin-related protein 7 inhibits insulin signaling in colorectal cancer.
PMID: 27409167
Oncotarget · 2016
0.90
3
Genetics of prion diseases.
PMID: 23518043
Curr Opin Genet Dev · 2013
0.80
4
Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9.
PMID: 12890864
Proc Natl Acad Sci U S A · 2003
0.70
5
Myotubularin-related-protein-7 inhibits mutant (G12V) K-RAS by direct interaction.
PMID: 38462034
Cancer Lett · 2024
0.60