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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:0003712 | Skeletal muscle hypertrophy |
| HP:0003738 | Exercise-induced myalgia |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0004488 | Macrocephaly at birth |
| HP:0005268 | Miscarriage |
| HP:0005335 | Sleepy facial expression |
| HP:0007126 | Proximal amyotrophy |
| HP:0008180 | Mildly elevated creatine kinase |
| HP:0008948 | Proximal upper limb amyotrophy |
| HP:0008981 | Calf muscle hypertrophy |
| Disease ID | Disease Name |
|---|---|
| ORPHA:169189 |
|
| OMIM:160150 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 108534803 | RHIBE41425 | ||
| 104667167 | RHIRO37384 | ||
| 100594364 | NOMLE19868 | ||
| 113151701 | ANATE35187 | ||
| 107569464 | SINGR78731 | ||
| 107586366 | SINGR37568 | ||
| 111584396 | AMPOC26082 | ||
| 109514829 | HIPCM25683 | ||
| 105299058 | PTEVA02718 | ||
| 115043061 | ECHNA05205 |
