Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia |
| gptkbp:discoveredBy |
Deng et al.
|
| gptkbp:discoveredIn |
2011
|
| gptkbp:encodes |
ubiquilin-2 protein
|
| gptkbp:Entrez_Gene_ID |
29978
|
| gptkbp:expressedIn |
gptkb:spinal_cord
brain |
| gptkbp:function |
gptkb:ubiquitin-proteasome_pathway
protein degradation |
| gptkbp:HGNC_ID |
HGNC:12502
|
| https://www.w3.org/2000/01/rdf-schema#label |
UBQLN2 gene
|
| gptkbp:locatedOnChromosome |
gptkb:X_chromosome
gptkb:Xp11.21 |
| gptkbp:mutationAssociatedWith |
missense mutation
frameshift mutation |
| gptkbp:OMIM |
300264
|
| gptkbp:orthologInMouse |
Ubqln2
|
| gptkbp:pathway |
protein quality control
autophagy |
| gptkbp:proteinFamily |
gptkb:ubiquilin_family
ubiquitin-associated domain ubiquitin-like domain |
| gptkbp:UniProtID |
Q9UHD9
|
| gptkbp:bfsParent |
gptkb:UBQLN2
|
| gptkbp:bfsLayer |
7
|