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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:0008994 | Proximal muscle weakness in lower limbs |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0010546 | Muscle fibrillation |
| HP:0010628 | Facial palsy |
| HP:0012768 | Neonatal asphyxia |
| HP:0100284 | EMG: myotonic discharges |
| Disease ID | Disease Name |
|---|---|
| ORPHA:169189 |
|
| OMIM:160150 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100731708 | CAVPO21033 | ||
| 101589727 | OCTDE02583 | ||
| 101724817 | HETGA07427 | ||
| 100014047 | MONDO30562 | ||
| 114044510 | VOMUR07608 | ||
| 113880292 | BOBOX09626 | ||
| 100956987 | OTOGA15571 | ||
| 102799444 | NEOBR20225 | ||
| 102004757 | CHILA24097 | ||
| 108248376 | KRYMA25244 |
