Statements (24)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
GAQ
G-α-q G-αq |
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:Sturge-Weber_syndrome
gptkb:uveal_melanoma |
gptkbp:discoveredIn |
1990s
|
gptkbp:encodes |
G protein subunit alpha q
|
gptkbp:Entrez_Gene_ID |
2776
|
gptkbp:expressedIn |
various tissues including brain and eye
|
gptkbp:function |
encodes a G protein alpha subunit involved in transmembrane signaling
|
gptkbp:HGNC_ID |
4381
|
https://www.w3.org/2000/01/rdf-schema#label |
GNAQ
|
gptkbp:length |
359 amino acids
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_9q21
|
gptkbp:mutationAssociatedWith |
activating mutations can lead to cancer
|
gptkbp:OMIM |
600998
|
gptkbp:orthologInMouse |
Gnaq
|
gptkbp:proteinFamily |
gptkb:Gq_alpha_subunit_family
|
gptkbp:UniProtID |
P50148
|
gptkbp:bfsParent |
gptkb:uveal_melanoma
gptkb:PLCB4 |
gptkbp:bfsLayer |
7
|