|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
Cardiac sodium channel alpha subunit
HH1
Nav1.5 alpha subunit
|
|
gptkbp:associatedWith
|
gptkb:Long_QT_syndrome
gptkb:Brugada_syndrome
Atrial fibrillation
Progressive cardiac conduction defect
Sick sinus syndrome
|
|
gptkbp:biologicalProcess
|
cardiac muscle contraction
ion channel activity
regulation of heart rate
|
|
gptkbp:chromosomeArm
|
p
|
|
gptkbp:clinicalTrialPhase
|
available
|
|
gptkbp:discoveredBy
|
George et al.
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
Nav1.5
|
|
gptkbp:Entrez_Gene_ID
|
6331
ENSG00000183873
rs1805124
rs1805126
rs6599230
|
|
gptkbp:expressedIn
|
gptkb:Purkinje_fibers
heart
cardiac muscle
ventricular myocardium
|
|
gptkbp:function
|
voltage-gated sodium channel activity
cardiac action potential propagation
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:10593
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SCN5A
|
|
gptkbp:lengthOfProtein
|
2016 amino acids
|
|
gptkbp:locatedOnChromosome
|
3
3p22.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:arrhythmia
nonsense
deletion
insertion
missense
splice site
|
|
gptkbp:numberOfExons
|
28
|
|
gptkbp:OMIM
|
600163
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Scn5a
|
|
gptkbp:pathway
|
Cardiac conduction
Phase 0 depolarization
|
|
gptkbp:product
|
Sodium channel protein type 5 subunit alpha
|
|
gptkbp:proteinFamily
|
voltage-gated sodium channels
|
|
gptkbp:referenceGenome
|
NM_198056
|
|
gptkbp:referenceSequenceProtein
|
NP_932173
|
|
gptkbp:UniProtID
|
Q14524
|
|
gptkbp:bfsParent
|
gptkb:long_QT_syndrome
|
|
gptkbp:bfsLayer
|
6
|