MTMR3: Myotubularin Related Protein 3
A dual-specificity phosphatase involved in phosphoinositide metabolism and autophagy regulation
Gene Information Card
| Symbol | MTMR3 |
|---|---|
| Full Name | Myotubularin Related Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 8897 ncbi.nlm.nih.gov/gene/8897 |
| Ensembl ID | ENSG00000100330 |
| UniProt ID | Q13615 |
| OMIM ID | 603558 |
| HGNC ID | 7450 |
| Aliases | FYVE-DSP1, ZFYVE10, MTMR3 |
Description
MTMR3 encodes myotubularin related protein 3, a dual-specificity phosphatase that dephosphorylates phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3-phosphate. It contains a FYVE zinc finger domain and a coiled-coil region, and is involved in phosphoinositide metabolism, autophagy, and endosomal trafficking. Mutations in MTMR3 have been associated with cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered expression and potential role in autophagy dysregulation | PMID: 25605248 |
| Colorectal cancer | Somatic mutations and copy number alterations | COSMIC |
| Breast cancer | Differential expression and potential tumor suppressor role | PMID: 23542377 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 15.2 | High |
| Heart | 6.1 | Low |
| Lung | 9.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression |
| HeLa | 11.2 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| MCF7 | 7.3 | 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 functional effect |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.02% | Reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing phosphatase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
Not reported for MTMR3.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3 | • 5-bisphosphate phosphatase activity |
| • phosphatidylinositol-3-phosphate phosphatase activity | • protein tyrosine phosphatase activity |
| • autophagy | • endosomal transport |
| • phosphatidylinositol dephosphorylation |
Pathways
• Phosphatidylinositol phosphate metabolism
• Autophagy
• Endocytosis
Protein Summary
MTMR3 is a 1198-amino acid protein with a FYVE zinc finger domain that targets it to phosphatidylinositol 3-phosphate-enriched membranes. It functions as a phosphatase converting phosphatidylinositol 3,5-bisphosphate to phosphatidylinositol 5-phosphate and phosphatidylinositol 3-phosphate to phosphatidylinositol. It regulates autophagy by modulating PI3P levels on autophagosomal membranes. The protein also interacts with other myotubularin family members and is implicated in vesicular trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTMR3 Knockout HEK293 Cell Line | EDJ-KQ1665 | Human | 8897 | Details Get a Quote |
| MTMR3 Knockout HCT 116 Cell Line | EDJ-KQ20082 | Human | 8897 | Details Get a Quote |
| MTMR3 Knockout A-549 Cell Line | EDJ-KQ21430 | Human | 8897 | Details Get a Quote |
| MTMR3 Knockout HeLa Cell Line | EDJ-KQ21432 | Human | 8897 | Details Get a Quote |
| MTMR3 Knockout HAP1 Cell Line | EDC07868 | Human | 8897 | Details Get a Quote |
