MTMR4: Myotubularin Related Protein 4
A dual-specificity phosphatase involved in endosomal trafficking and phosphoinositide signaling
Gene Information Card
| Symbol | MTMR4 |
|---|---|
| Full Name | Myotubularin Related Protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 9110 ncbi.nlm.nih.gov/gene/9110 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q9NYL4 |
| OMIM ID | 603559 |
| HGNC ID | 7452 |
| Aliases | FYVE-DSP1, ZFYVE11 |
Description
MTMR4 (myotubularin related protein 4) encodes a dual-specificity phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bisphosphate. The protein contains a FYVE zinc finger domain that targets it to early endosomes, where it regulates endosomal trafficking and receptor signaling. MTMR4 is involved in the TGF-β signaling pathway by dephosphorylating the type I receptor and modulating Smad activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Liver | 4.1 | Low |
| Kidney | 7.8 | Medium |
| Testis | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.5 | Cervical carcinoma |
| HEK 293 | 7.2 | Embryonic kidney |
| K562 | 5.8 | Leukemia |
| HepG2 | 6.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Cys; predicted benign |
| c.567_568del | Frameshift | 0.001% | Loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause loss of phosphatase activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol phosphate metabolism (R-HSA-1483255)
• TGF-beta receptor signaling (R-HSA-2173789)
Protein Summary
MTMR4 is a 1195-amino acid protein with a dual-specificity phosphatase domain and a FYVE domain. It localizes to early endosomes and dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bisphosphate, regulating endosomal trafficking. It also dephosphorylates the TGF-β type I receptor, modulating Smad2/3 phosphorylation and TGF-β signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTMR4 Knockout HEK293 Cell Line | EDJ-KQ1666 | Human | 9110 | Details Get a Quote |
| MTMR4 Knockout A-549 Cell Line | EDJ-KQ21433 | Human | 9110 | Details Get a Quote |
| MTMR4 Knockout HCT 116 Cell Line | EDJ-KQ21434 | Human | 9110 | Details Get a Quote |
| MTMR4 Knockout HeLa Cell Line | EDJ-KQ21435 | Human | 9110 | Details Get a Quote |
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