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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Myotubularin-related protein 2
Summary
- UniProt ID
- Q13614
- Gene Symbol
-
- MTMR2
- KIAA1073
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q13614
- PubChem
- Q13614
- SwissLipids
- The Human Metabolome Database
- HMDBP11837
- The O-GlcNAc Database
- Q13614
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell projection
- Charcot-Marie-Tooth disease
- Coiled coil
- Cytoplasm
- Disease variant
- Endosome
- Hydrolase
- Lipid metabolism
- Membrane
- Neurodegeneration
- Phosphoprotein
- Reference proteome
- Gene Ontology (GO)
| GO Term |
|---|
| nucleus |
| cytoplasm |
| vacuolar membrane |
| membrane |
| axon |
| intracellular membrane-bounded organelle |
| dendrite |
| extracellular exosome |
| synaptic membrane |
| early endosome membrane |
Sequence
MEKSSSCESLGSQPAAARPPSVDSLSSASTSHSENSVHTKSASVVSSDSISTSADNFSPDLRVLRESNKLAEMEEPPLLPGENIKDMAKDVTYICPFTGAVRGTLTVTNYRLYFKSMERDPPFVLDASLGVINRVEKIGGASSRGENSYGLETVCKDIRNLRFAHKPEGRTRRSIFENLMKYAFPVSNNLPLFAFEYKEVFPENGWKLYDPLLEYRRQGIPNESWRITKINERYELCDTYPALLVVPANIPDEELKRVASFRSRGRIPVLSWIHPESQATITRCSQPMVGVSGKRSKEDEKYLQAIMDSNAQSHKIFIFDARPSVNAVANKAKGGGYESEDAYQNAELVFLDIHNIHVMRESLRKLKEIVYPNIEETHWLSNLESTHWLEHIKLILAGALRIADKVESGKTSVVVHCSDGWDRTAQLTSLAMLMLDGYYRTIRGFEVLVEKEWLSFGHRFQLRVGHGDKNHADADRSPVFLQFIDCVWQMTRQFPTAFEFNEYFLITILDHLYSCLFGTFLCNSEQQRGKENLPKRTVSLWSYINSQLEDFTNPLYGSYSNHVLYPVASMRHLELWVGYYIRWNPRMKPQEPIHNRYKELLAKRAELQKKVEELQREISNRSTSSSERASSPAQCVTPVQTVV
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Synthesis of PIPs at the ER membrane | Homo sapiens |
| Synthesis of PIPs at the early endosome membrane | Homo sapiens |
| Synthesis of PIPs at the late endosome membrane | Homo sapiens |
| Synthesis of PIPs at the plasma membrane | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:423 | myopathy | |
| DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
| DOID:0050540 | Charcot-Marie-Tooth disease type 3 | |
| DOID:0050541 | Charcot-Marie-Tooth disease type 4 | |
| DOID:0060249 | scoliosis | |
| DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum | |
| DOID:0060843 | hereditary neuropathy with liability to pressure palsies | |
| DOID:0070161 | hereditary sensory and autonomic neuropathy type 2 | |
| DOID:0090003 | agenesis of the corpus callosum with peripheral neuropathy | |
| DOID:0110148 | Charcot-Marie-Tooth disease type 1A |
