Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:X-linked_intellectual_disability
gptkb:early-onset_Parkinson's_disease |
| gptkbp:encodes |
gptkb:Ras-related_protein_Rab-39B
|
| gptkbp:Entrez_Gene_ID |
ENSG00000102081
200958 |
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
vesicle trafficking
|
| gptkbp:HGNC_ID |
gptkb:HGNC:18274
|
| https://www.w3.org/2000/01/rdf-schema#label |
RAB39B
|
| gptkbp:locatedOnChromosome |
gptkb:Xq28
gptkb:X_chromosome |
| gptkbp:mutationAssociatedWith |
loss of function mutations cause neurological disorders
|
| gptkbp:OMIM |
300774
|
| gptkbp:orthologInMouse |
gptkb:Rab39b
|
| gptkbp:proteinFamily |
gptkb:Ras_superfamily
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
gptkb:Q96DA2
|
| gptkbp:bfsParent |
gptkb:Xq28
|
| gptkbp:bfsLayer |
6
|