Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
Epilepsy
benign familial neonatal seizures |
| gptkbp:discoveredBy |
Biervert et al.
|
| gptkbp:encodes |
Potassium voltage-gated channel subfamily Q member 2
|
| gptkbp:Entrez_Gene_ID |
3784
ENSG00000185790 |
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
regulation of neuronal excitability
potassium ion transport |
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:6294
|
| https://www.w3.org/2000/01/rdf-schema#label |
KCNQ2
|
| gptkbp:interactsWith |
gptkb:KCNE2
gptkb:KCNQ3 |
| gptkbp:locatedOnChromosome |
chromosome 20
20q13.33 |
| gptkbp:memberOf |
KCNQ gene family
|
| gptkbp:mutationAssociatedWith |
epilepsy
|
| gptkbp:OMIM |
602235
|
| gptkbp:orthologInMouse |
Kcnq2
|
| gptkbp:product |
Kv7.2
|
| gptkbp:UniProtID |
O43526
|
| gptkbp:bfsParent |
gptkb:KCNQ_family
|
| gptkbp:bfsLayer |
7
|