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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:0000006 | Autosomal dominant inheritance |
| HP:0000020 | Urinary incontinence |
| HP:0000028 | Cryptorchidism |
| HP:0000508 | Ptosis |
| HP:0000544 | External ophthalmoplegia |
| HP:0000883 | Thin ribs |
| HP:0001048 | Cavernous hemangioma |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001290 | Generalized hypotonia |
| 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 | ||
| 106565250 | SALSA60663 | ||
| 106583633 | SALSA104366 | ||
| 115150142 | SALTR34055 | ||
| 115208333 | SALTR39347 |
