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FLASH GENE

Symbol

SCN5A

contributors: mct - updated : 04-09-2016

HGNC name	sodium channel, voltage-gated, type V, alpha subunit
HGNC id	10593

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BRGS1 Brugada syndrome 1 CMD1E cardiomyopathy, dilated 1E LQT3 long QT syndrome with ventricular tachyarrhythmia, type 3 PCCD1 progressive cardiac conduction defect 1 PCCD2 progressive cardiac conduction defect 2 SSS1 Sick sinus syndrome 1
Location	3p22.2      Physical location : 38.589.553 - 38.691.164
Synonym name	cardiac sodium channel alpha subunit
	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)
Synonym symbol(s)	IVF, HB2, HB1, Nav1.5, CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, VF1

DNA

TYPE	functioning gene
STRUCTURE	101.61 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
motif	repetitive sequence
text structure	dinucleotide repeat polymorphism in intron 16
	multiple positive and negative cis-acting elements extending into intron 1

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_198056 28 - 8504 NP_932173 227 2016 - 2008 18378609 NM_000335 28 - 8501 NP_000326 227 2015 - 2008 18378609 NM_001099405 27 - 8450 NP_001092875 225 1998 - 2008 18378609 NM_001099404 28 - 8504 NP_001092874 227 2016 - 2008 18378609 NM_001160161 27 - 8343 NP_001153633 221.2 1962 - - also called isoform f NM_001160160 28 - 8406 NP_001153632 223 1983 - - also called isoform e

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart atrium       Reproductive female system ovary

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac myocardium   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four transmembrane domains (4TM) of homology, each with six alpha helical membrane spanning segments
	two cytoplasmic loops
	dinucleotide repeat polymorphism
	one IQ domain
	C-terminus with a PY-motif (xPPxY) acting as binding site for Nedd4/Nedd4-like ubiquitin-protein ligases

HOMOLOGY

interspecies

homolog to murine Scn5a

Homologene

FAMILY

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	SCN5A and DLG1 are both localized at intercalated discs
	localizes at lateral membranes of cardiomyocytes with dystrophin and syntrophin

basic FUNCTION

sodium voltage-gated channel, type V, tetradotoxin-resistant, playing a critical role for heart excitability and conduction

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

SNTA1-based NOS1 complex attached to SCN5A is a key regulator of sodium current

INTERACTION

DNA

RNA

small molecule

protein	interacting with NEDD4L (acting on SCN5A by decreasing the channel density at the cell surface)
	interacting with TCAP
	TBX5 drives SCN5A expression to regulate cardiac conduction system function
	GJA1 associates with SCN5A in the cardiomyocyte perinexus
	SCN5A is post-translationally modified by arginine methylation, by PRMT3 and PRMT5
	N-linked glycosylation of SCNB2 is required for surface localization of SCN5A, a property that is often defective in inherited cardiac arrhythmias

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LQT3 , PCCD2 , PCCD1 , SSS1 , CMD1E , BRGS1

related resource

Congenital Long QT Syndrome at GeneDis Gene Connection for the Heart Long QT Syndrome Database

Susceptibility

to cardiac arrhythmia and sudden death

Variant & Polymorphism SNP , other	Y1102 and H558R allele increasing risk of arrhythmia
	SNP S1103Y associated with cardiac arrhythmia and sudden death
	rs11720524 located in intron 1 in SCN5A remained significantly associated with sudden/arrhythmic death

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS