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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 |
|---|
| cytosol |
| synaptic vesicle |
| postsynaptic density |
| dendritic spine |
| perinuclear region of cytoplasm |
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:574 | peripheral nervous system disease | |
| DOID:7319 | axonal neuropathy | |
| DOID:0110157 | Charcot-Marie-Tooth disease type 2J | |
| DOID:0110158 | Charcot-Marie-Tooth disease type 2I | |
| DOID:0110159 | Charcot-Marie-Tooth disease type 2B | |
| DOID:0110160 | Charcot-Marie-Tooth disease axonal type 2T | |
| DOID:0110161 | Charcot-Marie-Tooth disease type 2R | |
| DOID:0110163 | Charcot-Marie-Tooth disease axonal type 2F | |
| DOID:0110164 | Charcot-Marie-Tooth disease type 2D | |
| DOID:0110165 | Charcot-Marie-Tooth disease type 2E |
