MTMR2: Myotubularin Related Protein 2
A Phosphoinositide Phosphatase Implicated in Charcot-Marie-Tooth Neuropathy and Cancer
Gene Information Card
| Symbol | MTMR2 |
|---|---|
| Full Name | Myotubularin Related Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q21 |
| NCBI Gene ID | 8898 ncbi.nlm.nih.gov/gene/8898 |
| Ensembl ID | ENSG00000187079 |
| UniProt ID | Q13614 |
| OMIM ID | 603557 |
| HGNC ID | 7450 |
| Aliases | CMT4B1, MTMR2, myotubularin related protein 2 |
Description
MTMR2 encodes a member of the myotubularin family of dual-specificity phosphatases. The protein dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bisphosphate, key regulators of endosomal trafficking and membrane dynamics. Mutations in MTMR2 cause Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe autosomal recessive demyelinating neuropathy. Altered expression has also been reported in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 4B1 (CMT4B1) | Loss-of-function mutations impair phosphatase activity, leading to abnormal myelin outfoldings and peripheral nerve degeneration. | OMIM #603557; ClinVar |
| Hereditary motor and sensory neuropathy | Similar mechanism as CMT4B1, with progressive distal muscle weakness and sensory loss. | OMIM #603557 |
| Glioblastoma | Reduced MTMR2 expression may contribute to tumor progression via altered phosphoinositide signaling. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Peripheral nerve | 12.3 | Medium-High |
| Testis | 6.2 | Medium |
| Skeletal muscle | 4.1 | Low-Medium |
| Heart | 3.8 | Low-Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| HeLa (cervical carcinoma) | 7.4 | Epithelial |
| HepG2 (hepatocellular carcinoma) | 5.6 | Liver-derived |
| A549 (lung carcinoma) | 4.9 | Lung-derived |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4C>T (p.Arg2*) | Nonsense | Rare | Loss of function; associated with CMT4B1 |
| c.208C>T (p.Arg70*) | Nonsense | Rare | Loss of function; associated with CMT4B1 |
| c.397C>T (p.Arg133Trp) | Missense | Rare | Impaired phosphatase activity; CMT4B1 |
| c.1492C>T (p.Arg498*) | Nonsense | Rare | Loss of function; CMT4B1 |
Mutation functional classification
Loss of Function (LOF)
Most MTMR2 mutations are loss-of-function, leading to reduced or absent phosphatase activity and causing CMT4B1.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MTMR2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3 | • 5-bisphosphate phosphatase activity |
| • phosphatidylinositol-3-phosphate phosphatase activity | • protein tyrosine phosphatase activity |
| • endosome membrane | • early endosome |
| • phosphatidylinositol dephosphorylation | • vesicle-mediated transport |
Pathways
• Phosphatidylinositol phosphate metabolism
• Endosomal trafficking
• Vesicle-mediated transport
Protein Summary
MTMR2 is a 643-amino acid protein containing a phosphatase domain and a coiled-coil domain. It localizes to endosomal membranes and dephosphorylates PI(3)P and PI(3,5)P2, regulating endosomal sorting and membrane homeostasis. Loss of function leads to abnormal myelin outfoldings in Schwann cells, causing peripheral neuropathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTMR2 Knockout HEK293 Cell Line | EDJ-KQ1664 | Human | 8898 | Details Get a Quote |
| MTMR2 Knockout A-549 Cell Line | EDJ-KQ21427 | Human | 8898 | Details Get a Quote |
| MTMR2 Knockout HCT 116 Cell Line | EDJ-KQ21428 | Human | 8898 | Details Get a Quote |
| MTMR2 Knockout HeLa Cell Line | EDJ-KQ21429 | Human | 8898 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
