AutismKB 2.0

Annotation Detail for SCN5A


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Basic Information Top
Gene Symbol:SCN5A ( CDCD2,CMD1E,CMPD2,HB1,HB2,HBBD,HH1,ICCD,IVF,LQT3,Nav1.5,PFHB1,SSS1,VF1 )
Gene Full Name: sodium channel, voltage-gated, type V, alpha subunit
Band: 3p22.2
Quick LinksEntrez ID:6331; OMIM: 600163; Uniprot ID:SCN5A_HUMAN; ENSEMBL ID: ENSG00000183873; HGNC ID: 10593
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1787Heart disease
1832Congenital abnormality
1866Sudden infant death syndrome
1870Drug abuse
1878Ischemia
1911Intestinal disease
1944Breast cancer
2092Long QT syndrome
Desease Name
Electrocardiographic conduction measures
early onset of sudden infant death.
Atrial Fibrillation
CARDIOVASCULAR
SIDS/sudden infant death syndrome
QT interval
Drug-induced long-QT syndrome
inherited cardiac arrhythmia long QT syndrome
cardiac arrhythmias and sudden death
Brugada syndrome
cardiac conduction disturbances and degenerative changes
Desease Name
Electrocardiographic traits
PR interval
Electrocardiographic conduction measures
QT interval
Desease Name
Long QT syndrome-3
Brugada syndrome 1
Heart block, nonprogressive
Cardiomyopathy, dilated, 1E
Sick sinus syndrome 1
Heart block, progressive, type IA
Ventricular fibrillation, familial, 1
Sudden infant death syndrome, susceptibility to
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C520323 1-oleoyl-2-acetoyl-sn-glycerol 1-oleoyl-2-acetoyl-sn-glycerol results in decreased activity of SCN5A proteindecreases activity 12796143
D000638 Amiodarone Amiodarone results in decreased expression of SCN5A mRNAdecreases expression 15520326
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SCN5A mRNAaffects expression 16483693
D001977 Brompheniramine Brompheniramine results in decreased activity of SCN5A proteindecreases activity 17010640
D007545 Isoproterenol Isoproterenol results in increased expression of SCN5A mRNAincreases expression 17526999
D009543 Nifedipine Nifedipine results in decreased activity of SCN5A proteindecreases activity 17978865
16331678
D012964 Sodium SCN5A protein affects the transport of Sodiumaffects transport 17065252
D013779 Tetrodotoxin Tetrodotoxin results in decreased activity of SCN5A proteindecreases activity 17978865
D015032 Zinc Zinc results in decreased activity of SCN5A proteindecreases activity 16410023
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000169 Acrodermatitis Zinc 5.6917202136 16889938 17190629
MESH:D000544 Alzheimer Disease Zinc 2.7917119284 16580781 16325427 16410023
MESH:D000755 Anemia, Sickle Cell Zinc 5.1416916123
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9918057881 20041841 18218290
MESH:D001249 Asthma Zinc 3.0017085522
MESH:D001281 Atrial Fibrillation marker/mechanism 20062060
MESH:D001281 Atrial Fibrillation Amiodarone 4.0519698954 18651412
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.1119483382
MESH:D001919 Bradycardia Isoproterenol 5.476740701
MESH:D001930 Brain Injuries Zinc 4.9517109824
MESH:D053840 Brugada Syndrome marker/mechanism
MESH:D002294 Carcinoma, Squamous Cell Zinc 2.9516543248
MESH:D006332 Cardiomegaly Isoproterenol 4.2711179087 7544033
MESH:D002311 Cardiomyopathy, Dilated marker/mechanism
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9519225199 15710769
MESH:D002318 Cardiovascular Diseases Zinc 3.7916936243
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.3718974383
MESH:D019465 Craniofacial Abnormalities Zinc 2.4419302082
MESH:D003920 Diabetes Mellitus Zinc 4.3916479319
MESH:D056486 Drug-Induced Liver Injury Amiodarone 2.4418218290 15265979
MESH:D004938 Esophageal Neoplasms Zinc 2.9016543248
MESH:D005234 Fatty Liver Amiodarone 3.7214986274
MESH:D005756 Gastritis Zinc 5.1117241300
MESH:D006130 Growth Disorders Zinc 4.0817217573
MESH:D006333 Heart Failure Isoproterenol 8.1718097624
MESH:D006333 Heart Failure Zinc 8.1717162251
MESH:D006335 Heart Injuries Zinc 6.0917074742
MESH:D016481 Helicobacter Infections Zinc 4.7517241300
MESH:D006527 Hepatolenticular Degeneration Zinc 4.9517276780
MESH:D006529 Hepatomegaly Amiodarone 4.0115265979
MESH:D006937 Hypercholesterolemia Amiodarone 4.089751232 8137927
MESH:D006973 Hypertension Nifedipine 4.3020102058
MESH:D006984 Hypertrophy Isoproterenol 5.4012791704
MESH:D007022 Hypotension Isoproterenol 5.016740701
MESH:D007037 Hypothyroidism Amiodarone 4.7718020914 17991464
MESH:D007511 Ischemia Zinc 4.8916584753
MESH:D007674 Kidney Diseases Zinc 3.4316960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.6316518626
MESH:D008064 Lipidoses Amiodarone 3.6515342952 17567588
MESH:D008133 Long QT Syndrome marker/mechanism 10627139 12796143 17110414
MESH:D008133 Long QT Syndrome Amiodarone 3.7315350150 11989578 17391786
MESH:D008171 Lung Diseases Amiodarone 3.5012587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.8018516814
MESH:D008325 Mammary Neoplasms, Experimental Zinc 3.4212773700
MESH:D009181 Mycoses Amiodarone 5.2212754197 17974566
MESH:D009203 Myocardial Infarction Isoproterenol 3.9217052832 19172585 19595682 16697266 16584858 16538859 15740881
MESH:D011225 Pre-Eclampsia Zinc 4.3317114810
OMIM:113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA marker/mechanism
MESH:D011471 Prostatic Neoplasms Zinc 3.7916700911 12429649 16517595 16606632
MESH:D011654 Pulmonary Edema Isoproterenol 5.5710903255
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9212490602 11597910 12832656
MESH:D012162 Retinal Degeneration Zinc 4.2816584753
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.3718724381
OMIM:608567 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE marker/mechanism
MESH:D013276 Stomach Ulcer Amiodarone 8.6418087811
MESH:D013276 Stomach Ulcer Nifedipine 8.6414653237
MESH:D013398 Sudden Infant Death marker/mechanism
MESH:D013610 Tachycardia Amiodarone 4.5311238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.4319225199
MESH:D013959 Thyroid Diseases Amiodarone 5.0819731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.1218020914 19584973
MESH:D014062 Tongue Neoplasms Zinc 4.5916543248
MESH:D016171 Torsades de Pointes Amiodarone 4.4711989578 17467628
MESH:D018487 Ventricular Dysfunction, Left Isoproterenol 5.3818097624
OMIM:603829 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1 marker/mechanism
MESH:D020257 Ventricular Remodeling Isoproterenol 5.9718097624
Pathway ID Pathway Name
REACT:18266 Axon guidance
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA304
    • Releated gene ID Related gene Name
    PA304SCN5A
    Releated disease ID Related disease Name
    PA159018367Brugada syndrome
    PA443633Cardiomyopathy, Hypertrophic
    PA443796Coronary Artery Disease
    PA443797Coronary Disease
    PA446379Death, Sudden, Cardiac
    PA444368Heart Diseases
    PA445019Myocardial Infarction
    PA445769Sudden Infant Death
    PA445848Thromboembolism
    PA443224Abnormalities, Drug-Induced
    PA447228congenital long QT syndrome
    PA443459Atrial Fibrillation
    PA443228Abortion, Habitual
    PA443319Alzheimer Disease
    PA443632Cardiomyopathy, Dilated
    PA444365Heart Arrest
    PA445629Seizures
    PA445787Syncope
    PA446450Tachycardia, Ventricular
    PA446294Torsades de Pointes
    PA446028Ventricular Fibrillation
    PA444807Long QT Syndrome
    PA443421Arrhythmias, Cardiac
    PA447300Acquired Long QT Syndrome (aLQTS)
    Releated drug ID Related drug Name
    PA164712547Beta blocking agents, selective
    PA451906warfarin
    PA452233antipsychotics
    PA448486arsenic trioxide
    PA448498astemizole
    PA164754755bepridil
    PA448948chloroquine
    PA448964chlorpromazine
    PA449011cisapride
    PA449373disopyramide
    PA449389dofetilide
    PA134711056domperidone
    PA449422droperidol
    PA449839halofantrine
    PA449841haloperidol
    PA449958ibutilide
    PA450215levomethadyl acetate
    PA450386mesoridazine
    PA450401methadone
    PA450850pentamidine
    PA450965pimozide
    PA451108procainamide
    PA451209quinidine
    PA451457sotalol
    PA451472sparfloxacin
    PA451666thioridazine
    PA448383amiodarone
    PA449028clarithromycin
    PA449493erythromycin
    PA451788trimethoprim
    PA451619terfenadine
    PA449412doxorubicin
    PA1102qt-prolonging drugs
    PA451544sulfamethoxazole
    PA450488mexiletine
    PA452249antiarrhythmics, class i and iii
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00192 blocker Indecainide Antidysrhythmic Agents;Sodium channel blockers
    DB00243 antagonist Ranolazine Enzyme Inhibitors
    DB00252 antagonist Dilantin W Phenobarbital 30mg Cap Anticonvulsants
    DB00280 antagonist Disopyramide Antiarrhythmic Agents;Anti-Arrhythmia Agents
    DB00281 antagonist Xylonor Spray Antiarrhythmic Agents;Anesthetics;Anesthetics, Local;Anti-Arrhythmia Agents
    DB00379 antagonist Mexiletine Anti-Arrhythmia Agents
    DB00473 antagonist Hexylcaine Anesthetics;Local Anesthetics
    DB00527 antagonist Sandoz Proctomyxin Hc Anesthetics, Local
    DB00532 antagonist Mephenytoin Anticonvulsants
    DB00564 antagonist Carbamazepine Anticonvulsants;Analgesics;Antimanic Agents;Analgesics, Non-Narcotic
    DB00661 other Tarka Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
    DB00680 blocker Moricizine Anti-Arrhythmia Agents
    DB00740 antagonist Riluzole Anticonvulsants;Neuroprotective Agents;Anesthetics;Excitatory Amino Acid Antagonists
    DB00750 blocker Prilocaine Anesthetics;Local Anesthetics;Anesthetics, Local
    DB00754 blocker Ethotoin Anticonvulsants
    DB00776 antagonist Oxcarbazepine Anticonvulsants
    DB00868 blocker Benzonatate Antitussives
    DB00907 blocker Cocaine Vasoconstrictor Agents;Dopamine Uptake Inhibitors;Anesthetics;Local Anesthetics;Anesthetics, Local
    DB00908 blocker Quinidine Enzyme Inhibitors;Antiarrhythmic Agents;Antimalarials;Muscarinic Antagonists;Adrenergic alpha-Antagonists;Anti-Arrhythmia Agents
    DB00909 antagonist Zonisamide Antioxidants;Anticonvulsants
    DB01035 blocker Procainamide Antiarrhythmic Agents;Anti-Arrhythmia Agents
    DB01056 antagonist Tocainide Sodium channel blockers;Anti-Arrhythmia Agents
    DB01182 antagonist Propafenone Anti-Arrhythmia Agents
    DB01195 blocker Flecainide Antiarrhythmic Agents;Anti-Arrhythmia Agents
    DB01228 blocker Encainide Sodium channel blockers;Antiarrhythmic Agents;Anti-Arrhythmia Agents
    DB01320 antagonist Fosphenytoin Anticonvulsants
    DB01346 antagonist Quinidine barbiturate
    DB01426 antagonist Ajmaline Antiarrhythmic Agents;Anti-Arrhythmia Agents
    DB01429 antagonist Aprindine Anti-Arrhythmia Agents
    No data
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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