MTMR10: Myotubularin Related Protein 10
A catalytically inactive pseudophosphatase involved in phosphoinositide metabolism and potential tumor suppression.
Gene Information Card
| Symbol | MTMR10 |
|---|---|
| Full Name | Myotubularin Related Protein 10 |
| Gene Type | Protein coding (pseudophosphatase) |
| Chromosomal Location | 15q13.3 |
| NCBI Gene ID | 54893 ncbi.nlm.nih.gov/gene/54893 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9NXD2 |
| OMIM ID | 611748 |
| HGNC ID | 20496 |
| Aliases | FLJ20607, MGC138290 |
Description
MTMR10 encodes a member of the myotubularin family of phosphoinositide phosphatases. Unlike most family members, MTMR10 lacks catalytic phosphatase activity due to the absence of essential active-site residues, classifying it as a pseudophosphatase. It is thought to regulate phosphoinositide signaling by interacting with active myotubularins and may play a role in vesicular trafficking, cell growth, and tumor suppression. The gene is located on chromosome 15q13.3, a region associated with various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential tumor suppressor; altered expression may contribute to oncogenesis | COSMIC; literature |
| Prostate cancer | Downregulation observed; may affect PI3K/AKT signaling | COSMIC; literature |
| Breast cancer | Copy number loss and reduced expression reported | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.5 | Medium |
| Brain | 6.2 | Medium |
| Kidney | 5.1 | Low |
| Liver | 3.8 | Low |
| Heart | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | Embryonic kidney; moderate expression |
| HeLa | 5.8 | Cervical cancer; moderate expression |
| MCF7 | 4.2 | Breast cancer; low expression |
| PC3 | 3.5 | Prostate cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown; predicted benign |
| c.1456G>A (p.Gly486Ser) | Missense | <0.01% | Unknown; predicted benign |
| c.1789_1790insA | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein or nonsense-mediated decay, reducing functional MTMR10 levels.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects; MTMR10 is catalytically inactive and likely acts as a regulator.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol phosphate metabolism
• PI3K/AKT signaling (modulation via phosphoinositide regulation)
Protein Summary
MTMR10 is a 741-amino acid protein belonging to the myotubularin family. It contains a GRAM domain, a phosphatase domain (catalytically inactive), and a coiled-coil region. Despite lacking enzymatic activity, MTMR10 can heterodimerize with active myotubularins (e.g., MTMR2, MTMR6) and modulate their substrate specificity or localization. It is implicated in endosomal trafficking and phosphoinositide homeostasis. Loss of MTMR10 expression has been observed in several cancers, suggesting a potential tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTMR10 Knockout HEK293 Cell Line | EDJ-KQ14332 | Human | 54893 | Details Get a Quote |
| MTMR10 Knockout A-549 Cell Line | EDJ-KQ44439 | Human | 54893 | Details Get a Quote |
| MTMR10 Knockout HCT 116 Cell Line | EDJ-KQ44440 | Human | 54893 | Details Get a Quote |
| MTMR10 Knockout HeLa Cell Line | EDJ-KQ44441 | Human | 54893 | Details Get a Quote |
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