Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Dravet_syndrome
gptkb:arrhythmia gptkb:SCN2B gptkb:SCN3B gptkb:SCN1A epilepsy SCN4B |
| gptkbp:discoveredBy |
George et al.
|
| gptkbp:encodes |
Sodium channel subunit beta-1
|
| gptkbp:Entrez_Gene_ID |
6327
ENSG00000105711 |
| gptkbp:expressedIn |
brain
heart |
| gptkbp:firstDescribed |
1992
|
| gptkbp:function |
modulates sodium channel activity
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
10575
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCN1B
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19
19q13.11 |
| gptkbp:mutationAssociatedWith |
gptkb:Brugada_syndrome
generalized epilepsy with febrile seizures plus |
| gptkbp:OMIM |
600235
|
| gptkbp:orthologInMouse |
Scn1b
|
| gptkbp:proteinFamily |
voltage-gated sodium channel beta subunits
|
| gptkbp:UniProtID |
Q07699
|
| gptkbp:bfsParent |
gptkb:Familial_atrial_fibrillation
|
| gptkbp:bfsLayer |
7
|