Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
Nav1.8
PN3 |
| gptkbp:associatedWith |
gptkb:Brugada_syndrome
gptkb:congenital_insensitivity_to_pain pain perception cardiac conduction |
| gptkbp:discoveredBy |
Catterall laboratory
|
| gptkbp:encodes |
Sodium channel protein type 10 subunit alpha
|
| gptkbp:Entrez_Gene_ID |
6336
ENSG00000196876 |
| gptkbp:expressedIn |
heart
peripheral nervous system |
| gptkbp:function |
mediates sodium ion transport
|
| gptkbp:HGNC_ID |
HGNC:10582
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCN10A
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
3p22.2 |
| gptkbp:mutationAssociatedWith |
cardiac arrhythmia risk
altered pain sensitivity |
| gptkbp:OMIM |
604427
|
| gptkbp:orthologInMouse |
Scn10a
|
| gptkbp:proteinFamily |
gptkb:voltage-gated_potassium_channel
|
| gptkbp:UniProtID |
Q9Y5Y9
|
| gptkbp:bfsParent |
gptkb:Familial_atrial_fibrillation
|
| gptkbp:bfsLayer |
7
|