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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:3571 | liver cancer | |
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| DOID:0080089 | tubular aggregate myopathy 1 | |
| DOID:0080102 | congenital myopathy 4A | |
| DOID:0110632 | megaconial type congenital muscular dystrophy | |
| DOID:0110633 | rigid spine muscular dystrophy 1 | |
| DOID:0110634 | congenital muscular dystrophy 1B |
- 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 |
|---|---|---|---|
| 105730282 | AOTNA17913 | ||
| 101045778 | SAIBB12043 | ||
| 111221688 | SERDU07033 | ||
| 108427615 | PYGNA09510 | ||
| 103152719 | POEFO22959 | ||
| 101604223 | JACJA02415 | ||
| 118309131 | SCOMX28407 | ||
| 117036826 | RHIFE16453 | ||
| 100224025 | TAEGU03942 | ||
| 103227971 | CHLSB10546 |
