myotubularin related protein 14
Symbol
MTMR14
(may also be known as: None)
Organism
Human
Description
This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
Orthologs
| Symbol | Species | |
|---|---|---|
| EDTP | Drosophila melanogaster | |
| mtmr14 | Danio rerio | |
| Mtmr14 | Mus musculus | |
| Mtmr14 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
| Identifier | Name | Type | Tissues | Organism | Gene | Data | Actions |
|---|---|---|---|---|---|---|---|
| DAA2918 | Gene expression of MTMR14 decreases with age | Molecular | adipose tissue | Human | MTMR14 | — |
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0001726 | ruffle | cellular_component | |
| GO:0005737 | cytoplasm | cellular_component | |
| GO:0048471 | perinuclear region of cytoplasm | cellular_component | |
| GO:0004438 | phosphatidylinositol-3-phosphatase activity | molecular_function | |
| GO:0004725 | protein tyrosine phosphatase activity | molecular_function | |
| GO:0016787 | hydrolase activity | molecular_function | |
| GO:0016791 | phosphatase activity | molecular_function | |