MTMR14 Gene - Myotubularin Related Protein 14
A Phosphoinositide Phosphatase Involved in Autophagy and Muscle Function
Gene Information Card
| Symbol | MTMR14 |
|---|---|
| Full Name | Myotubularin Related Protein 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 64419 ncbi.nlm.nih.gov/gene/64419 |
| Ensembl ID | ENSG00000163644 |
| UniProt ID | Q8NCE2 |
| OMIM ID | 611089 |
| HGNC ID | 20490 |
| Aliases | FLJ20481, MGC131738, MGC148394, hJumpy |
Description
MTMR14 (myotubularin related protein 14) encodes a phosphoinositide phosphatase that dephosphorylates phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3-phosphate. The protein is involved in autophagy, endosomal trafficking, and skeletal muscle maintenance. Mutations in MTMR14 are associated with centronuclear myopathy and have been implicated in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Centronuclear myopathy (CNM) | Loss-of-function mutations impair phosphoinositide metabolism, disrupting autophagy and muscle fiber organization | OMIM #611089; ClinVar |
| Cancer (various types) | Somatic mutations and altered expression may affect autophagy and cell growth pathways | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 5.1 | Low |
| Liver | 3.2 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.7 | Cervical cancer cell line |
| HEK293 | 5.9 | Embryonic kidney cells |
| K562 | 4.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.149C>T (p.Pro50Leu) | Missense | Rare | Impaired phosphatase activity; associated with CNM |
| c.388G>A (p.Gly130Arg) | Missense | Rare | Reduced protein stability; CNM |
| c.1123C>T (p.Arg375Trp) | Missense | Rare | Loss of function; CNM |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro50Leu, p.Gly130Arg) reduce or abolish phosphatase activity, leading to autophagy defects and muscle pathology.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3 (GO:0004437) | • phosphatidylinositol-3-phosphate phosphatase activity (GO:0004438) |
| • autophagy (GO:0006914) | • macroautophagy (GO:0016236) |
| • endosomal membrane (GO:0033162) |
Pathways
• Autophagy - phosphoinositide signaling
• Endosomal trafficking
Protein Summary
MTMR14 is a 647-amino acid protein belonging to the myotubularin family. It contains a phosphatase domain that specifically dephosphorylates phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3-phosphate. The protein localizes to endosomal membranes and regulates autophagy by controlling phosphoinositide levels. Loss of function leads to impaired autophagic flux and is linked to centronuclear myopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTMR14 Knockout HEK293 Cell Line | EDJ-KQ988 | Human | 64419 | Details Get a Quote |
| MTMR14 Knockout A-549 Cell Line | EDJ-KQ20014 | Human | 64419 | Details Get a Quote |
| MTMR14 Knockout HCT 116 Cell Line | EDJ-KQ20015 | Human | 64419 | Details Get a Quote |
| MTMR14 Knockout HeLa Cell Line | EDJ-KQ20016 | Human | 64419 | Details Get a Quote |
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