MTMR7: Myotubularin Related Protein 7
A lipid phosphatase involved in phosphoinositide metabolism and potential roles in neurological and metabolic disorders.
Gene Information Card
| Symbol | MTMR7 |
|---|---|
| Full Name | myotubularin related protein 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 9108 ncbi.nlm.nih.gov/gene/9108 |
| Ensembl ID | ENSG00000104472 |
| UniProt ID | Q9Y216 |
| OMIM ID | 611561 |
| HGNC ID | 7453 |
| Aliases | KIAA0371, MTMR7 |
Description
MTMR7 encodes a member of the myotubularin family of dual-specificity phosphatases. The protein specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol (3,5)-bisphosphate (PtdIns(3,5)P2), key regulators of endosomal trafficking and signaling. MTMR7 is predominantly expressed in brain and skeletal muscle, and its dysregulation has been implicated in neurological and metabolic conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Motor and Sensory Neuropathy (potential) | Loss of MTMR7 phosphatase activity may disrupt phosphoinositide homeostasis in neurons, impairing endosomal trafficking and axonal maintenance. | Limited; inferred from family member MTMR2 mutations in CMT4B (OMIM #603557) and functional studies. |
| Type 2 Diabetes (potential) | MTMR7 expression in skeletal muscle modulates insulin signaling via PI3K/Akt pathway; altered phosphatase activity may contribute to insulin resistance. | Association studies and in vitro models (PMID: 19074966). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Skeletal Muscle | 8.3 | Low |
| Heart | 5.1 | Low |
| Liver | 2.0 | Not detected |
| Kidney | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| C2C12 (myoblast) | 9.8 | Muscle differentiation model |
| HEK293 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT/PolyPhen |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; truncation of phosphatase domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the phosphatase domain are predicted to abolish PtdIns3P phosphatase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; potential if mutant protein dimerizes with wild-type myotubularins.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3-phosphate phosphatase activity | • phosphatidylinositol-3 |
| • 5-bisphosphate phosphatase activity | • protein tyrosine phosphatase activity |
| • endosome | • cytosol |
| • phosphatidylinositol dephosphorylation | • endosomal transport |
| • signal transduction |
Pathways
• Phosphatidylinositol phosphate metabolism (R-HSA-1483255)
• PI3K/AKT signaling (Reactome R-HSA-1257604)
Protein Summary
MTMR7 is a 660-amino acid protein containing a GRAM domain, a phosphatase domain, and a coiled-coil region. It specifically dephosphorylates PtdIns3P and PtdIns(3,5)P2, regulating endosomal membrane dynamics. The protein is highly expressed in brain and skeletal muscle, where it modulates vesicle trafficking and insulin signaling. Mutations in MTMR7 are rare but may contribute to neurological and metabolic phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTMR7 Knockout HEK293 Cell Line | EDJ-KQ1670 | Human | 9108 | Details Get a Quote |
| MTMR7 Knockout A-549 Cell Line | EDJ-KQ21441 | Human | 9108 | Details Get a Quote |
| MTMR7 Knockout HCT 116 Cell Line | EDJ-KQ21442 | Human | 9108 | Details Get a Quote |
| MTMR7 Knockout HeLa Cell Line | EDJ-KQ21443 | Human | 9108 | Details Get a Quote |
