MTMR6: Myotubularin Related Protein 6
A phosphoinositide phosphatase involved in immune regulation and vesicular trafficking
Gene Information Card
| Symbol | MTMR6 |
|---|---|
| Full Name | Myotubularin Related Protein 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.3 |
| NCBI Gene ID | 8897 ncbi.nlm.nih.gov/gene/8897 |
| Ensembl ID | ENSG00000139514 |
| UniProt ID | Q9Y217 |
| OMIM ID | 603561 |
| HGNC ID | 7452 |
| Aliases | FYVE-DSP2, MTMR6, myotubularin related protein 6 |
Description
MTMR6 encodes a member of the myotubularin family of phosphoinositide phosphatases. The protein dephosphorylates phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3-phosphate, regulating endosomal trafficking and calcium signaling. It is involved in immune cell function, particularly in T-cell activation and mast cell degranulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | MTMR6 deficiency impairs T-cell receptor signaling and calcium mobilization | PMID: 24958875 |
| Asthma | MTMR6 variants associated with altered mast cell function and airway hyperresponsiveness | PMID: 19179494 |
| Cancer | MTMR6 expression changes in various tumors; potential role in tumor immune evasion | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Medium |
| Lung | 6.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat T cells | 15.2 | High expression |
| THP-1 monocytes | 9.8 | Moderate expression |
| HEK293 | 4.5 | Low expression |
| HeLa | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with immunodeficiency |
| c.567G>A (p.Gly189Arg) | Missense | <0.01% | Reduced phosphatase activity |
| c.890A>G (p.Asn297Ser) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish phosphatase activity, impairing endosomal trafficking and immune signaling.
Gain of Function (GOF)
No gain-of-function mutations reported in MTMR6.
Dominant Negative (DN)
No dominant-negative mutations reported in MTMR6.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3 | • 5-bisphosphate phosphatase activity |
| • phosphatidylinositol-3-phosphate phosphatase activity | • endosome |
| • early endosome | • late endosome |
| • protein dephosphorylation | • phosphatidylinositol dephosphorylation |
| • vesicle-mediated transport | • T cell receptor signaling pathway |
| • mast cell degranulation |
Pathways
• Phosphatidylinositol phosphate metabolism
• Endosomal trafficking
• T-cell receptor signaling
• Fc epsilon RI signaling in mast cells
Protein Summary
MTMR6 is a 621-amino acid protein containing a phosphatase domain and a FYVE zinc finger domain that targets it to endosomal membranes. It dephosphorylates PI(3,5)P2 and PI(3)P, regulating endosomal dynamics and calcium signaling. The protein is critical for proper T-cell activation and mast cell function, and its deficiency leads to immune dysregulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTMR6 Knockout HEK293 Cell Line | EDJ-KQ1669 | Human | 9107 | Details Get a Quote |
| MTMR6 Knockout A-549 Cell Line | EDJ-KQ20089 | Human | 9107 | Details Get a Quote |
| MTMR6 Knockout HCT 116 Cell Line | EDJ-KQ21439 | Human | 9107 | Details Get a Quote |
| MTMR6 Knockout HeLa Cell Line | EDJ-KQ21440 | Human | 9107 | Details Get a Quote |
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