Statements (27)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:GAD65
|
gptkbp:associatedWith |
epilepsy
schizophrenia type 1 diabetes |
gptkbp:discoveredIn |
1991
|
gptkbp:encodes |
gptkb:glutamate_decarboxylase_2
|
gptkbp:Entrez_Gene_ID |
2572
ENSG00000128683 |
gptkbp:expressedIn |
gptkb:pancreatic_islets
central nervous system |
gptkbp:function |
catalyzes conversion of glutamate to GABA
|
gptkbp:hasTranscriptVariant |
multiple
|
gptkbp:HGNC_ID |
4092
|
https://www.w3.org/2000/01/rdf-schema#label |
GAD2 gene
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_10
10p12.1 |
gptkbp:mutationAssociatedWith |
can affect GABA synthesis
|
gptkbp:OMIM |
138275
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
gptkb:Gad2
|
gptkbp:product |
gptkb:GAD65
|
gptkbp:relatedTo |
gptkb:GAD1_gene
|
gptkbp:UniProtID |
Q05329
|
gptkbp:bfsParent |
gptkb:GAD65
gptkb:GADase |
gptkbp:bfsLayer |
7
|