MTMR11: Myotubularin Related Protein 11
A pseudophosphatase involved in phosphoinositide metabolism and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | MTMR11 |
|---|---|
| Full Name | Myotubularin related protein 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 9603 ncbi.nlm.nih.gov/gene/9603 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q9H0H5 |
| OMIM ID | 611560 |
| HGNC ID | 7452 |
| Aliases | FLJ20186, MGC138290, MGC138291 |
Description
MTMR11 (myotubularin related protein 11) is a member of the myotubularin family of phosphoinositide phosphatases. Unlike most family members, MTMR11 is a pseudophosphatase due to the absence of critical catalytic residues, but it retains the ability to bind phosphoinositides and may regulate vesicular trafficking and signaling pathways. It is ubiquitously expressed and has been implicated in cancer and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Potential role in tumor suppression or promotion via phosphoinositide signaling dysregulation | Limited evidence from expression studies and COSMIC mutation data |
| Neurological disorders | Possible involvement in neuronal signaling and vesicle transport | Inferred from family member functions; direct evidence lacking |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Testis | 6.2 | Medium |
| Lung | 5.1 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | Embryonic kidney cells |
| HeLa | 6.5 | Cervical cancer cells |
| K562 | 5.3 | Leukemia cells |
| A549 | 4.8 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Unknown functional effect |
| c.1456C>T (p.Arg486Trp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in MTMR11.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol phosphate metabolism
• Vesicle-mediated transport
Protein Summary
MTMR11 encodes a 748-amino acid protein with a GRAM domain and a phosphatase-like domain lacking catalytic activity. It localizes to endosomal membranes and may regulate phosphoinositide levels through protein-protein interactions. Its pseudophosphatase status suggests a regulatory role in myotubularin complex signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTMR11 Knockout HEK293 Cell Line | EDJ-KQ7209 | Human | 10903 | Details Get a Quote |
| MTMR11 Knockout A-549 Cell Line | EDJ-KQ32152 | Human | 10903 | Details Get a Quote |
| MTMR11 Knockout HCT 116 Cell Line | EDJ-KQ32153 | Human | 10903 | Details Get a Quote |
| MTMR11 Knockout HeLa Cell Line | EDJ-KQ32154 | Human | 10903 | Details Get a Quote |
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