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
|
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
GAD2 gene
|