Hs04725837_cn

• Gene Symbol: SCN5A
• Assay Reference Genome Location: Chr.3:38574526 on build GRCh38
• Cytoband: 3p22.2

Target Gene Details

• Entrez Gene ID: 6331
• Gene Name: sodium voltage-gated channel alpha subunit 5
• Gene Aliases: CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
• Location: Chr.3:38548061-38649673 on Build GRCh38
• Assay Gene Location: Within Intron 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCN5A	NM_000335.4			NP_000326.2
	NM_001099404.1			NP_001092874.1
	NM_001099405.1			NP_001092875.1
	NM_001160160.1			NP_001153632.1
	NM_001160161.1			NP_001153633.1
	NM_198056.2			NP_932173.1
	XM_011533991.2			XP_011532293.1
	XM_017007017.1			XP_016862506.1
	AB158469.2			BAD12084.1
	AB158470.2			BAD12085.1
	AB208866.1			BAD92103.1
	AF482988.1			AAO91669.1
	AY038064.1			AAK74065.1
	AY148488.1			AAN61120.1
	BC140813.1
	BC144621.1
	EF629346.1
	EF629347.1
	KC858891.1
	M77235.1			AAA58644.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv3770	Chr.3:38564119 - 38600375 on Build GRCh38	Insertion	SCN5A

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

regulation of heart rate
cardiac ventricle development
brainstem development
sodium ion transport
positive regulation of sodium ion transport
response to denervation involved in regulation of muscle adaptation
neuronal action potential
telencephalon development
cerebellum development
sodium ion transmembrane transport
odontogenesis of dentin-containing tooth
positive regulation of action potential
positive regulation of epithelial cell proliferation
membrane depolarization
cardiac muscle contraction
regulation of postsynaptic membrane potential
regulation of ventricular cardiac muscle cell membrane repolarization
regulation of atrial cardiac muscle cell membrane depolarization
regulation of atrial cardiac muscle cell membrane repolarization
regulation of ventricular cardiac muscle cell membrane depolarization
cardiac conduction
cellular response to calcium ion
cardiac muscle cell action potential involved in contraction
regulation of cardiac muscle cell contraction
ventricular cardiac muscle cell action potential
membrane depolarization during action potential
membrane depolarization during cardiac muscle cell action potential
SA node cell action potential
AV node cell action potential
bundle of His cell action potential
membrane depolarization during AV node cell action potential
membrane depolarization during SA node cell action potential
membrane depolarization during Purkinje myocyte cell action potential
membrane depolarization during bundle of His cell action potential
AV node cell to bundle of His cell communication
regulation of heart rate by cardiac conduction
regulation of sodium ion transmembrane transport

Function(s)

voltage-gated sodium channel activity
protein binding
calmodulin binding
fibroblast growth factor binding
enzyme binding
protein kinase binding
protein domain specific binding
ankyrin binding
ubiquitin protein ligase binding
ion channel binding
nitric-oxide synthase binding
voltage-gated sodium channel activity involved in cardiac muscle cell action potential
voltage-gated sodium channel activity involved in AV node cell action potential
voltage-gated sodium channel activity involved in bundle of His cell action potential
voltage-gated sodium channel activity involved in Purkinje myocyte action potential
voltage-gated sodium channel activity involved in SA node cell action potential
scaffold protein binding