Gene info: ID 6331

Gene: SCN5A

GENE ID: 6331

Synonyms: CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1

Description: sodium voltage-gated channel alpha subunit 5

Gene type: protein-coding

Location: 3p22.2

dbXrefs: Ensembl:ENSG00000183873 MIM:600163 Vega:OTTHUMG00000156166 UniprotKB:Q14524

RefSeq: NG_008934.1

Retrived from: PubMed

SNPs: 0 ANCO-SNPs

Phenotype: ND|AD

# Publications: 3

Sherlock p-value : NA (AD) NA (ND) (Frontal_Cortex)

Pascal p-value : 2.357e-1 (AD) 2.958e-1 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
NTNG1	0.75
IGSF3	0.738
PRSS12	0.737
PCDH19	0.72
GRM7	0.719
UNC5D	0.711
HDAC9	0.702
FBLN7	0.702
CACNA1G	0.701
PIP5K1B	0.701

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
NFIA	-0.469
STON2	-0.452
CARHSP1	-0.432
AKR1C3	-0.43
HEY2	-0.429
OTUD7B	-0.428
ZHX2	-0.428
TMEM176A	-0.428
HVCN1	-0.425
ARHGAP19	-0.424

ID	Drug Name	Drug Type	CAS Num	Status	Role
DB00192	Indecainide	Small Molecule	74517-78-5	Approved	Target
DB00243	Ranolazine	Small Molecule	95635-55-5	Approved\|Investigational	Target
DB00252	Phenytoin	Small Molecule	57-41-0	Approved	Target
DB00280	Disopyramide	Small Molecule	3737-09-5	Approved	Target
DB00281	Lidocaine	Small Molecule	137-58-6	Approved	Target
DB00379	Mexiletine	Small Molecule	31828-71-4	Approved\|Investigational	Target
DB00473	Hexylcaine	Small Molecule	532-77-4	Approved\|Withdrawn	Target
DB00527	Cinchocaine	Small Molecule	85-79-0	Approved	Target
DB00532	Mephenytoin	Small Molecule	50-12-4	Investigational\|Withdrawn	Target
DB00564	Carbamazepine	Small Molecule	298-46-4	Approved\|Investigational	Target
DB00661	Verapamil	Small Molecule	52-53-9	Approved	Target
DB00680	Moricizine	Small Molecule	31883-05-3	Approved\|Investigational\|Withdrawn	Target
DB00740	Riluzole	Small Molecule	1744-22-5	Approved\|Investigational	Target
DB00750	Prilocaine	Small Molecule	721-50-6	Approved	Target
DB00754	Ethotoin	Small Molecule	86-35-1	Approved	Target
DB00776	Oxcarbazepine	Small Molecule	28721-07-5	Approved	Target
DB00868	Benzonatate	Small Molecule	104-31-4	Approved	Target
DB00907	Cocaine	Small Molecule	50-36-2	Approved\|Illicit	Target
DB00908	Quinidine	Small Molecule	56-54-2	Approved\|Investigational	Target
DB00909	Zonisamide	Small Molecule	68291-97-4	Approved\|Investigational	Target
DB01035	Procainamide	Small Molecule	51-06-9	Approved	Target
DB01056	Tocainide	Small Molecule	41708-72-9	Approved	Target
DB01182	Propafenone	Small Molecule	54063-53-5	Approved	Target
DB01195	Flecainide	Small Molecule	54143-55-4	Approved\|Withdrawn	Target
DB01228	Encainide	Small Molecule	66778-36-7	Approved\|Investigational\|Withdrawn	Target
DB01320	Fosphenytoin	Small Molecule	93390-81-9	Approved\|Investigational	Target
DB01346	Quinidine barbiturate	Small Molecule	-	Approved	Target
DB01426	Ajmaline	Small Molecule	4360-12-7	Approved\|Investigational	Target
DB01429	Aprindine	Small Molecule	37640-71-4	Approved	Target
DB06217	Vernakalant	Small Molecule	794466-70-9	Approved\|Investigational	Target
DB11633	Isavuconazole	Small Molecule	241479-67-4	Approved\|Investigational	Target
DB00313	Valproic Acid	Small Molecule	99-66-1	Approved\|Investigational	Target
DB05541	Brivaracetam	Small Molecule	357336-20-0	Approved\|Investigational	Target

ID	Drug Name	Action	PubMed
C103345	18-methoxycoronaridine	18-methoxycoronaridine results in decreased activity of SCN5A protein	23707769
C105351	1-hydroxy-2-oxo-3,3-bis(2-aminoethyl)-1-triazene	"[Tretinoin co-treated with Phenylbutyrates co-treated with 1-hydroxy-2-oxo-3,3-bis(2-aminoethyl)-1-triazene] results in increased expression of SCN5A mRNA"	23284745
C105351	1-hydroxy-2-oxo-3,3-bis(2-aminoethyl)-1-triazene	"[Tretinoin co-treated with Phenylbutyrates co-treated with 1-hydroxy-2-oxo-3,3-bis(2-aminoethyl)-1-triazene] results in increased expression of SCN5A protein"	23284745
C520323	1-oleoyl-2-acetoyl-sn-glycerol	1-oleoyl-2-acetoyl-sn-glycerol results in decreased activity of SCN5A protein	12796143
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	"2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of SCN5A mRNA"	19114083
D000404	Ajmaline	SCN5A protein affects the susceptibility to Ajmaline	10662748\|1552032
D000404	Ajmaline	Ajmaline results in decreased activity of SCN5A protein	20174578
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of SCN5A mRNA	21298039
D000638	Amiodarone	Amiodarone results in decreased expression of SCN5A mRNA	15520326
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SCN5A mRNA	16483693
C006780	bisphenol A	bisphenol A binds to and results in decreased activity of SCN5A protein	22848561
C006780	bisphenol A	bisphenol A results in decreased methylation of SCN5A promoter	27312807
C006780	bisphenol A	bisphenol A results in decreased expression of SCN5A mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of SCN5A gene	28505145
D001977	Brompheniramine	Brompheniramine results in decreased activity of SCN5A protein	17010640
C018475	butyraldehyde	butyraldehyde results in decreased expression of SCN5A mRNA	26079696
D002725	Chloroform	Chloroform results in decreased activity of SCN5A protein	22024336
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SCN5A gene	20938992
D020117	Cisapride	Cisapride results in increased localization of SCN5A protein mutant form	16301357
C551994	crizotinib	crizotinib results in decreased activity of SCN5A protein	23707608
D003471	Cuprizone	Cuprizone affects the expression of SCN5A mRNA	27523638
D003630	Daunorubicin	Daunorubicin results in decreased expression of SCN5A mRNA	26537877\|2894005
C014347	decitabine	decitabine results in decreased methylation of SCN5A gene	27923600
D004317	Doxorubicin	Doxorubicin results in decreased expression of SCN5A mRNA	26537877\|2894005
D004317	Doxorubicin	Doxorubicin affects the methylation of SCN5A gene	28962528
D004317	Doxorubicin	Doxorubicin results in decreased expression of SCN5A mRNA	19915844
C070189	(endo-N-8-methyl-8-azabicyclo-(3.2.1)oct-3-yl)-2,3-dihydro-3-isopropyl-2-oxo-1H-benzimidazol-1-carboxamide	"(endo-N-8-methyl-8-azabicyclo-(3.2.1)oct-3-yl)-2,3-dihydro-3-isopropyl-2-oxo-1H-benzimidazol-1-carboxamide results in decreased activity of SCN5A protein"	28552773
C101866	ezogabine	ezogabine affects the activity of SCN5A protein	28641963
D005424	Flecainide	SCN5A mutant form affects the susceptibility to Flecainide	12687841
D005424	Flecainide	SCN5A gene mutant form affects the susceptibility to Flecainide	17805561
D016650	Fluorescein-5-isothiocyanate	Fluorescein-5-isothiocyanate binds to SCN5A protein	27129696
D016666	Fluvoxamine	Fluvoxamine results in decreased activity of SCN5A protein	19875396
D016666	Fluvoxamine	SCN5A protein affects the susceptibility to Fluvoxamine	19875396
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SCN5A gene	20938992
C039281	furan	furan results in increased expression of SCN5A mRNA	27387713
D017313	Fenretinide	Fenretinide results in decreased expression of SCN5A mRNA	28973697
C438914	icajine	icajine binds to and results in decreased activity of SCN5A protein	21616062
D007545	Isoproterenol	Isoproterenol results in increased expression of SCN5A mRNA	17526999
C410337	K 7174	K 7174 results in increased expression of SCN5A mRNA	24086573
D008012	Lidocaine	SCN5A protein mutant form affects the susceptibility to Lidocaine	18599870
D008012	Lidocaine	Lidocaine results in decreased activity of SCN5A protein	23261645
D018021	Lithium Chloride	Lithium Chloride results in decreased activity of SCN5A protein	16144991
D008694	Methamphetamine	Methamphetamine results in decreased methylation of SCN5A promoter	26307267
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SCN5A gene	20938992
D007050	Ibogaine	Ibogaine results in decreased activity of SCN5A protein	23707769
D008801	Mexiletine	Mexiletine binds to SCN5A protein	22848561
D008942	Mitoxantrone	Mitoxantrone results in decreased expression of SCN5A mRNA	26537877\|2894005
C051752	nefazodone	nefazodone affects the activity of SCN5A protein	26821276
D009543	Nifedipine	Nifedipine results in decreased activity of SCN5A protein	16331678\|1797886
C030110	oxaliplatin	oxaliplatin affects the activity of SCN5A protein	19422847
C046012	pentanal	pentanal results in increased expression of SCN5A mRNA	26079696
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in increased expression of SCN5A mRNA	23602845
D010654	Phenylbutyrates	"[Tretinoin co-treated with Phenylbutyrates co-treated with 1-hydroxy-2-oxo-3,3-bis(2-aminoethyl)-1-triazene] results in increased expression of SCN5A mRNA"	23284745
D010654	Phenylbutyrates	"[Tretinoin co-treated with Phenylbutyrates co-treated with 1-hydroxy-2-oxo-3,3-bis(2-aminoethyl)-1-triazene] results in increased expression of SCN5A protein"	23284745
D010936	Plant Extracts	Plant Extracts results in decreased expression of SCN5A mRNA	23557933
D011441	Propylthiouracil	Propylthiouracil affects the expression of SCN5A mRNA	24780913
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of SCN5A mRNA	27029645
D011794	Quercetin	Quercetin results in increased expression of SCN5A protein	19207037
D011802	Quinidine	SCN5A gene mutant form affects the susceptibility to Quinidine	17805561
D012964	Sodium	SCN5A protein affects the transport of Sodium	17065252
C017947	sodium arsenite	sodium arsenite results in decreased expression of SCN5A mRNA	21776218
D013331	Strychnine	Strychnine binds to and results in decreased activity of SCN5A protein	21616062
C473478	sunitinib	sunitinib results in decreased activity of SCN5A protein	21906609\|2370760
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in increased expression of SCN5A mRNA	25172293
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SCN5A mRNA	21570461
D013779	Tetrodotoxin	Tetrodotoxin results in decreased activity of SCN5A protein	17978865
C009495	titanium dioxide	titanium dioxide results in decreased expression of SCN5A mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of SCN5A mRNA	28065790
D014212	Tretinoin	"[Tretinoin co-treated with Phenylbutyrates co-treated with 1-hydroxy-2-oxo-3,3-bis(2-aminoethyl)-1-triazene] results in increased expression of SCN5A mRNA"	23284745
D014212	Tretinoin	"[Tretinoin co-treated with Phenylbutyrates co-treated with 1-hydroxy-2-oxo-3,3-bis(2-aminoethyl)-1-triazene] results in increased expression of SCN5A protein"	23284745
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of SCN5A mRNA	29024780
D014635	Valproic Acid	Valproic Acid affects the expression of SCN5A mRNA	25979313
D015032	Zinc	Zinc results in decreased activity of SCN5A protein	16410023

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005244	voltage-gated ion channel activity	-	IEA	-
GO:0005248	voltage-gated sodium channel activity	-	IBA	21873635
GO:0005248	voltage-gated sodium channel activity	-	IDA	14500339 19074138 19808477 19943616 21895525 22514276
GO:0005248	voltage-gated sodium channel activity	-	IMP	23085483 26279430 26392562
GO:0005261	cation channel activity	-	IBA	21873635
GO:0005515	protein binding	-	IPI	12429735 16728661 16930557 18184654 18591664 19943616 22514276 22705208 23912080 26392562
GO:0005516	calmodulin binding	-	IPI	21167176
GO:0017134	fibroblast growth factor binding	-	IPI	12401812
GO:0019899	enzyme binding	-	IPI	19666841
GO:0019901	protein kinase binding	-	IPI	22514276
GO:0019904	protein domain specific binding	-	IPI	19943616
GO:0030506	ankyrin binding	-	IDA	15579534
GO:0031625	ubiquitin protein ligase binding	-	IPI	15217910
GO:0044325	ion channel binding	-	IPI	17592081 20042427 24998131
GO:0050998	nitric-oxide synthase binding	-	IPI	18591664
GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	-	IDA	18065446
GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	-	IMP	18616619 21895525 22529811
GO:0086060	voltage-gated sodium channel activity involved in AV node cell action potential	-	IMP	18616619
GO:0086061	voltage-gated sodium channel activity involved in bundle of His cell action potential	-	IMP	18065446
GO:0086062	voltage-gated sodium channel activity involved in Purkinje myocyte action potential	-	IMP	22766342
GO:0086063	voltage-gated sodium channel activity involved in SA node cell action potential	-	IMP	18616619
GO:0097110	scaffold protein binding	-	IPI	17060380

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0002027	regulation of heart rate	-	IMP	10471492 18065446 18616619 21895525 22529811 23085483 26279430 26392562
GO:0003231	cardiac ventricle development	-	ISS	-
GO:0003360	brainstem development	-	ISS	-
GO:0006814	sodium ion transport	-	IDA	19074138 22514276
GO:0010765	positive regulation of sodium ion transport	-	IDA	14500339 18065446 19808477 22529811
GO:0014894	response to denervation involved in regulation of muscle adaptation	-	ISS	-
GO:0019228	neuronal action potential	-	IBA	21873635
GO:0021537	telencephalon development	-	ISS	-
GO:0021549	cerebellum development	-	ISS	-
GO:0035725	sodium ion transmembrane transport	-	IBA	21873635
GO:0035725	sodium ion transmembrane transport	-	IDA	14500339 19943616 21051419
GO:0035725	sodium ion transmembrane transport	-	IMP	21895525 23085483 26279430 26392562
GO:0042475	odontogenesis of dentin-containing tooth	-	ISS	-
GO:0045760	positive regulation of action potential	-	ISS	-
GO:0050679	positive regulation of epithelial cell proliferation	-	ISS	-
GO:0051899	membrane depolarization	-	IDA	14500339 21051419 21895525
GO:0060048	cardiac muscle contraction	-	IMP	18065446 21895525 22529811
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	-	IMP	7889574
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	-	IMP	19167345 22247482
GO:0060372	regulation of atrial cardiac muscle cell membrane repolarization	-	IMP	19167345
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	-	IMP	7889574 18065446 22529811
GO:0071277	cellular response to calcium ion	-	IDA	19074138
GO:0086002	cardiac muscle cell action potential involved in contraction	-	IMP	21895525
GO:0086004	regulation of cardiac muscle cell contraction	-	IMP	22529811
GO:0086005	ventricular cardiac muscle cell action potential	-	IMP	22529811
GO:0086010	membrane depolarization during action potential	-	IBA	21873635
GO:0086010	membrane depolarization during action potential	-	IDA	14500339 18065446 22529811
GO:0086012	membrane depolarization during cardiac muscle cell action potential	-	IMP	21895525
GO:0086014	atrial cardiac muscle cell action potential	-	IMP	18065446
GO:0086015	SA node cell action potential	-	IMP	18616619
GO:0086016	AV node cell action potential	-	IMP	18616619
GO:0086043	bundle of His cell action potential	-	IMP	18065446
GO:0086045	membrane depolarization during AV node cell action potential	-	IMP	18616619
GO:0086046	membrane depolarization during SA node cell action potential	-	IMP	18616619
GO:0086047	membrane depolarization during Purkinje myocyte cell action potential	-	IMP	22766342
GO:0086048	membrane depolarization during bundle of His cell action potential	-	IMP	18065446
GO:0086067	AV node cell to bundle of His cell communication	-	IMP	10471492
GO:0086091	regulation of heart rate by cardiac conduction	-	IMP	21895525
GO:0098912	membrane depolarization during atrial cardiac muscle cell action potential	-	IMP	18065446
GO:1902305	regulation of sodium ion transmembrane transport	-	IDA	18591664

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0001518	voltage-gated sodium channel complex	-	IC	14500339
GO:0001518	voltage-gated sodium channel complex	-	IDA	19808477 20042427 21051419
GO:0005622	intracellular	-	IDA	19943616
GO:0005783	endoplasmic reticulum	-	IDA	22529811
GO:0005886	plasma membrane	-	IBA	21873635
GO:0005886	plasma membrane	-	IDA	16728661 17060380 22529811
GO:0005886	plasma membrane	-	IMP	23085483 26279430
GO:0005886	plasma membrane	-	TAS	-
GO:0005901	caveola	-	IDA	23420830
GO:0005901	caveola	colocalizes_with	TAS	17060380
GO:0009986	cell surface	-	IDA	14500339 19666841 19943616
GO:0014704	intercalated disc	-	IDA	15579534
GO:0014704	intercalated disc	-	ISS	18184654
GO:0016021	integral component of membrane	-	IDA	19074138
GO:0016328	lateral plasma membrane	-	TAS	21164104
GO:0030018	Z disc	-	IDA	19943616
GO:0030315	T-tubule	-	IDA	15579534
GO:0042383	sarcolemma	-	IDA	17060380
GO:0048471	perinuclear region of cytoplasm	-	IEA	-

KEGG ID	KEGG Term

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	IEA
R-HSA-373760	L1CAM interactions	IEA
R-HSA-397014	Muscle contraction	TAS
R-HSA-422475	Axon guidance	IEA
R-HSA-445095	Interaction between L1 and Ankyrins	IEA
R-HSA-5576891	Cardiac conduction	TAS
R-HSA-5576892	Phase 0 - rapid depolarisation	TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID	Title (Year)	Author	Journal
20102864	Etiology of sudden death in the community: results of anatomical, metabolic, and genetic evaluation. (2010 Jan)	Adabag AS	Am Heart J
27490364	High Resolution Genomic Scans Reveal Genetic Architecture Controlling Alcohol Preference in Bidirectionally Selected Rat Model. (2016 Aug)	Lo CL	PLoS Genet
22844511	Common genetic variants associated with sudden cardiac death: the FinSCDgen study. (2012)	Lahtinen AM	PLoS One