Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Charcot-Marie-Tooth_disease
gptkb:centronuclear_myopathy |
| gptkbp:encodes |
dynamin-2 protein
|
| gptkbp:Entrez_Gene_ID |
1759
ENSG00000137768 |
| gptkbp:expressedIn |
ubiquitous tissues
|
| gptkbp:fullName |
dynamin 2
|
| gptkbp:function |
vesicle trafficking
GTPase activity endocytosis regulation |
| gptkbp:HGNC_ID |
2974
|
| https://www.w3.org/2000/01/rdf-schema#label |
DNM2
|
| gptkbp:interactsWith |
gptkb:BIN1
gptkb:amphiphysin SH3GL1 |
| gptkbp:locatedOnChromosome |
12q13.3
|
| gptkbp:mutationAssociatedWith |
muscle weakness
peripheral neuropathy |
| gptkbp:OMIM |
602378
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Dnm2
|
| gptkbp:proteinFamily |
gptkb:dynamin_family
|
| gptkbp:UniProtID |
Q92769
|
| gptkbp:bfsParent |
gptkb:Dynamin_family
|
| gptkbp:bfsLayer |
7
|