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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MTMR10
myotubularin related protein 10
Chromosome 15 · 15q13.3
NCBI Gene: 54893Ensembl: ENSG00000166912.18HGNC: HGNC:25999UniProt: Q9NXD2
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmmembranecytosolneurodegenerative diseaseAlzheimer diseasemultiple sclerosislysosomal storage disease
✦AI Summary

MTMR10 (myotubularin related protein 10) is a gene located at chromosome 15.3 that is implicated in various neuropsychiatric and developmental disorders through genomic deletions and duplications. MTMR10 is one of six genes commonly deleted in the 15q13.3 microdeletion syndrome, which is associated with intellectual disability, epilepsy, autism spectrum disorder, and schizophrenia 1 2. Mouse models with heterozygous deletions encompassing Mtmr10 exhibit increased seizure susceptibility, impaired spatial learning, and behavioral abnormalities relevant to autism and schizophrenia phenotypes 2 1. The protein localizes to cytoplasm, membrane, and cytosol compartments. Recent studies have identified MTMR10 variants associated with colorectal cancer susceptibility, where the rs3743231 CC genotype increases cancer risk through modulation of gene expression 3. Additionally, rare damaging variants in MTMR10 have been correlated with ADHD risk, suggesting involvement in immune processes and late-infancy cerebellar development 4. Prenatal deletions involving MTMR10 are associated with cardiovascular malformations and lateral ventriculomegaly 5. The gene also shows female-specific differential expression patterns in lung adenocarcinoma, where downregulation correlates with poor prognosis 6. However, the precise molecular mechanism of MTMR10 function remains incompletely characterized in the current literature.

Sources cited
1
MTMR10 is one of seven genes in the 15q13.3 microdeletion syndrome associated with epilepsy, autism, and schizophrenia
PMID: 27459725
2
Mouse models with deletions encompassing Mtmr10 show increased seizure susceptibility and impaired spatial learning
PMID: 32712126
3
MTMR10 rs3743231 CC genotype increases colorectal cancer risk through gene expression modulation
PMID: 39875006
4
Rare damaging variants in MTMR10 correlate with ADHD risk and immune processes
PMID: 40542392
5
Prenatal deletions involving MTMR10 associate with cardiovascular malformations and lateral ventriculomegaly
PMID: 41123664
6
MTMR10 shows female-specific differential expression in lung adenocarcinoma with prognostic significance
PMID: 39038326
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
Alzheimer diseaseOpen Targets
0.40Weak
lysosomal storage diseaseOpen Targets
0.40Weak
multiple sclerosisOpen Targets
0.40Weak
Parkinson diseaseOpen Targets
0.40Weak
eye diseaseOpen Targets
0.30Weak
response to antihypertensive drugOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.21Weak
benign neoplasm of eyeOpen Targets
0.19Weak
karyomegalic interstitial nephritisOpen Targets
0.12Weak
Abnormality of refractionOpen Targets
0.04Suggestive
eosinophilic esophagitisOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
HypocalcemiaOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
age-related macular degenerationOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MTMR2Protein interaction97%TRPM1Protein interaction95%FAN1Protein interaction95%OTUD7AProtein interaction81%IFT80Protein interaction76%KLF13Protein interaction73%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
66%
Heart
49%
Liver
46%
Lung
33%
Ovary
32%
Gene Interaction Network
Click a node to explore
MTMR10MTMR2TRPM1FAN1OTUD7AIFT80KLF13
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NXD2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.56–0.90]
RankingsWhere MTMR10 stands among ~20K protein-coding genes
  • #12,831of 20,598
    Most Researched26
  • #8,067of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedMTMR10
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?
PMID: 41123664
Arch Gynecol Obstet · 2025
1.00
2
Histone modification-based functional characterization and genetic association of polymorphisms in LRRC6 and MTMR10 within CRC susceptibility regions 8q24 and 15q13.3.
PMID: 39875006
Gene · 2025
0.90
3
Identification and Validation of Prognostic Risk Model for Female-Specific Lung Adenocarcinoma.
PMID: 39038326
Altern Ther Health Med · 2024
0.80
4
Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD.
PMID: 40542392
J Neurodev Disord · 2025
0.70
5
Central and peripheral immune responses to low-dose lipopolysaccharide in a mouse model of the 15q13.3 microdeletion.
PMID: 31629107
Cytokine · 2020
0.60