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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:0001371 | Flexion contracture |
| HP:0001436 | Abnormality of the foot musculature |
| HP:0001520 | Large for gestational age |
| HP:0001558 | Decreased fetal movement |
| HP:0001561 | Polyhydramnios |
| HP:0002021 | Pyloric stenosis |
| HP:0002047 | Malignant hyperthermia |
| HP:0002194 | Delayed gross motor development |
| HP:0002355 | Difficulty walking |
| HP:0002522 | Areflexia of lower limbs |
| 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 |
