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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:0110635 | muscular dystrophy-dystroglycanopathy type B5 | |
| DOID:0110636 | congenital merosin-deficient muscular dystrophy 1A | |
| DOID:0110637 | muscular dystrophy-dystroglycanopathy type B6 | |
| DOID:0110639 | congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| DOID:0110640 | congenital muscular dystrophy due to LMNA mutation | |
| DOID:0111216 | autosomal recessive centronuclear myopathy | |
| DOID:0111217 | autosomal dominant centronuclear myopathy | |
| DOID:0111223 | centronuclear myopathy 1 | |
| DOID:0111225 | centronuclear myopathy X-linked | |
| DOID:1029 | familial periodic paralysis |
- 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 |
|---|---|---|---|
| 36959 | FB:FBgn0027506 | ||
| 103176603 | CALMI10926 | ||
| 323929 | ZFIN:ZDB-GENE-030131-2649 | DANRE39422 | |
| 103023723 | ASTMX00973 | ||
| 108272090 | ICTPU02673 | ||
| 113581550 | ELEEL27633 | ||
| 105024794 | ESOLU50224 | ||
| 106583633 | SALSA82910 | ||
| 115150142 | SALTR34055 | ||
| 115208333 | SALTR39347 |
