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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
myotubularin related protein 14
Summary
- Gene Symbol
-
- MTMR14
- Aliases
-
- FLJ22405
- FLJ90311
- egg-derived tyrosine phosphatase homolog (Drosophila)
- hEDTP
- hJumpy
- Organism
- Homo sapiens (human)
Annotation
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidylinositol biosynthetic process |
|
|
| macroautophagy |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidylinositol-3-phosphate phosphatase activity | ||
| protein serine/threonine phosphatase activity |
|
|
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
|
|
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:2725 | capillary hemangioma | |
| DOID:3191 | nemaline myopathy | |
| DOID:3529 | congenital myopathy 1A | |
| DOID:4001 | ovarian carcinoma | |
| DOID:4090 | agnosia | |
| DOID:422 | congenital structural myopathy | |
| DOID:423 | myopathy | |
| DOID:483 | cavernous hemangioma | |
| DOID:539 | ophthalmoplegia | |
| DOID:684 | hepatocellular carcinoma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0003307 | Hyperlordosis |
| HP:0003388 | Easy fatigability |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003677 | Slowly progressive |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0003701 | Proximal muscle weakness |
| Disease ID | Disease Name |
|---|---|
| ORPHA:169189 |
|
| OMIM:160150 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 103386626 | CYNSE04029 | ||
| 105812594 | PROCO19830 | ||
| 109092397 | CYPCA48139 | ||
| 109092399 | CYPCA55321 | ||
| 103751415 | NANGA02962 | ||
| 116449589 | CORMO01289 | ||
| 103270574 | CARSF22336 |
