AutismKB 2.0

Annotation Detail for SCN4A


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Basic Information Top
Gene Symbol:SCN4A ( HOKPP2,HYKPP,HYPP,NAC1A,Na(V)1.4,Nav1.4,SkM1 )
Gene Full Name: sodium channel, voltage-gated, type IV, alpha subunit
Band: 17q23.3
Quick LinksEntrez ID:6329; OMIM: 603967; Uniprot ID:SCN4A_HUMAN; ENSEMBL ID: ENSG00000007314; HGNC ID: 10591
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of ion transport and metabolism
H00215Periodic paralysis
Genetic disorders
Desease IDDesease Name
1758Common cold
1870Drug abuse
1982Myopathy
No data
No data
Desease Name
Hyperkalemic periodic paralysis, type 2
Myasthenic syndrome
Myotonia congenita, atypical, acetazolamide-responsive
Cramps, familial, potassium-aggravated
Paramyotonia congenita
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C036531 2,6-xylenol 2,6-xylenol binds to and results in decreased activity of SCN4A proteinaffects binding|decreases activity 14662728
C430966 2-methyl-4-chlorophenol 2-methyl-4-chlorophenol affects the activity of SCN4A protein polymorphismaffects activity 11282107
C042041 3-cresol 3-cresol affects the activity of SCN4A protein polymorphismaffects activity 11282107
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SCN4A mRNAincreases expression 18648102
C029107 4-chlorophenol 4-chlorophenol affects the activity of SCN4A protein polymorphismaffects activity 11282107
C029107 4-chlorophenol 4-chlorophenol binds to and results in decreased activity of SCN4A proteinaffects binding|decreases activity 14662728
D019386 Alendronate Alendronate affects the expression of SCN4A mRNAaffects expression 16079270
D000638 Amiodarone Amiodarone results in decreased expression of SCN4A mRNAdecreases expression 15520326
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SCN4A mRNAaffects expression 16483693
D002713 Chlorine [Ozone co-treated with Chlorine] results in increased expression of SCN4A mRNAaffects cotreatment|increases expression 18636392
C007027 chloroxylenol chloroxylenol affects the activity of SCN4A protein polymorphismaffects activity 11282107
C007027 chloroxylenol chloroxylenol binds to and results in decreased activity of SCN4A proteinaffects binding|decreases activity 14662728
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SCN4A mRNAaffects expression 16079270
D008012 Lidocaine Lidocaine binds to and results in decreased activity of SCN4A proteinaffects binding|decreases activity 14662728
D010126 Ozone [Ozone co-treated with Chlorine] results in increased expression of SCN4A mRNAaffects cotreatment|increases expression 18636392
D010269 Paraquat Paraquat affects the expression of SCN4A mRNAaffects expression 15206577
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SCN4A mRNAaffects binding|decreases expression|increases activity 19710929
D020849 Raloxifene Raloxifene affects the expression of SCN4A mRNAaffects expression 16079270
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.5818287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9717505938
MESH:D055371 Acute Lung Injury Chlorine 9.1720601635
MESH:D055371 Acute Lung Injury pirinixic acid 9.1718653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8114692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.753712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.5016434500
MESH:D000382 Agricultural Workers' Diseases Paraquat 3.7811874814
MESH:D000419 Albuminuria Raloxifene 4.6017451421 17308373
MESH:D000544 Alzheimer Disease Ozone 4.3815513908
MESH:D000544 Alzheimer Disease Raloxifene 4.3815800139
MESH:D001145 Arrhythmias, Cardiac Amiodarone 9.6918218290 18057881 20041841
MESH:D001145 Arrhythmias, Cardiac Lidocaine 9.69513065
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.4811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6615885639
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5615570426
MESH:D001249 Asthma Ozone 2.6417854713 16373670
MESH:D001281 Atrial Fibrillation Amiodarone 3.9019698954 18651412
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.051440618 11289319
MESH:D001778 Blood Coagulation Disorders Amiodarone 9.1019483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.1019483382
MESH:D001930 Brain Injuries Raloxifene 4.4916580743
MESH:D001943 Breast Neoplasms Raloxifene 2.6715758505 17049068 17893378 15572757 16912660 17261762 17595753 17952589 17440819 15775269 17242785 16837676
MESH:D016535 Bronchial Hyperreactivity Ozone 3.6818417511 14754758 15516495 19059883 17626835 16777450 18315731
MESH:D002057 Burns, Chemical 3-cresol 7.2511593614
MESH:D002100 Cachexia Ozone 4.7616183385
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.753581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.687296757
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 4.0817572228
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.8915710769 19225199
MESH:D002318 Cardiovascular Diseases Raloxifene 3.4515775269
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.1018974383
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.767505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 13.399022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 13.3917110522 11677210 15861022 16919318 17333356 16105132 17681005
MESH:D002779 Cholestasis pirinixic acid 13.3919176532
MESH:D003072 Cognition Disorders Raloxifene 4.6315800139
MESH:D003865 Depressive Disorder, Major Raloxifene 4.1617474826
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.8214531868 12868966 2524372 11298694 11906362 8970840 8156756 18759878
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4318249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.503621924 2952479
MESH:D003928 Diabetic Nephropathies Raloxifene 3.9415920148 17451421 17308373
MESH:D056486 Drug-Induced Liver Injury 3-cresol 6.6811593614
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.689022650 9328219 18289764 6482804 18692083 9653073 11289319 18648102 1440618 7440962 16192314 6679447 8291058
MESH:D056486 Drug-Induced Liver Injury Amiodarone 6.6815265979 18218290
MESH:D004417 Dyspnea Chlorine 4.6520016425
MESH:D004487 Edema pirinixic acid 6.9112083418
MESH:D004487 Edema Raloxifene 6.9115860553
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.1512538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 9.1515845917
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.113581430
MESH:D005234 Fatty Liver Amiodarone 18.8414986274
MESH:D005234 Fatty Liver Ethinyl Estradiol 18.8415345470
MESH:D005234 Fatty Liver pirinixic acid 18.8419236843 20131406
MESH:D005234 Fatty Liver Raloxifene 18.8417473493
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.056705139
MESH:D005739 Gas Poisoning Chlorine 5.0420016425
MESH:D005911 Gliosis Paraquat 5.1911124998
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.047505956
MESH:D006331 Heart Diseases Raloxifene 3.5411110106
MESH:D006333 Heart Failure pirinixic acid 2.5420558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.526705139
MESH:D006529 Hepatomegaly Amiodarone 8.6215265979
MESH:D006529 Hepatomegaly pirinixic acid 8.6218467677 16221962 19176532 19772884
MESH:D006930 Hyperalgesia Alendronate 4.7216769263
MESH:D006937 Hypercholesterolemia Amiodarone 3.889751232 8137927
MESH:D006943 Hyperglycemia pirinixic acid 3.1920558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 3.9515034207
MESH:D006967 Hypersensitivity 3-cresol 6.2017718109
MESH:D006973 Hypertension Raloxifene 2.8717577099 15787275
OMIM:170400 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 marker/mechanism
OMIM:613345 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 marker/mechanism
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8216569931 16945680
MESH:D007037 Hypothyroidism Amiodarone 4.5317991464 18020914
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.7417937319
MESH:D007248 Infertility, Male Paraquat 6.744850670
MESH:D007333 Insulin Resistance pirinixic acid 2.6316306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.058074119 9022650
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 2.976582329
MESH:D007889 Leiomyoma Raloxifene 4.5016973256
MESH:D008064 Lipidoses Amiodarone 3.5115342952 17567588
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.209327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.8220007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.53598648 1399818 3712494 6587162
MESH:D008133 Long QT Syndrome Amiodarone 3.5811989578 17391786 15350150
MESH:D008171 Lung Diseases Amiodarone 7.6012587719
MESH:D008171 Lung Diseases Ozone 7.6019066396 8266340
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.5118516814
MESH:D055370 Lung Injury Ozone 3.8620417186
MESH:D008175 Lung Neoplasms Ozone 2.098597069 7614698
MESH:D008679 Metaplasia Ozone 5.1410496685
MESH:D008708 Methemoglobinemia Lidocaine 5.613537620
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 5.5815863610
MESH:D009101 Multiple Myeloma Raloxifene 3.4416497877
MESH:D009135 Muscular Diseases pirinixic acid 3.5216239165
MESH:D009181 Mycoses Amiodarone 4.9317974566 12754197
MESH:D009203 Myocardial Infarction pirinixic acid 2.1419151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9516411023
OMIM:608390 MYOTONIA, POTASSIUM-AGGRAVATED marker/mechanism
MESH:D020967 Myotonic Disorders marker/mechanism
MESH:D009232 Myxoma Raloxifene 5.5816343187
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.473581430
MESH:D009369 Neoplasms pirinixic acid 1.9517405874
MESH:D009410 Nerve Degeneration Paraquat 3.7216893418
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.916679447
MESH:D009765 Obesity pirinixic acid 1.8120558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.424026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.053988306
MESH:D010024 Osteoporosis Alendronate 7.8017882678
MESH:D010024 Osteoporosis Raloxifene 7.8017882678 15775268 19059307
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.2317823083 17893378 15758505 15579764
MESH:D010146 Pain Lidocaine 4.9515215642
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6911578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.507296757
MESH:D010245 Paralyses, Familial Periodic marker/mechanism
MESH:D020513 Paralysis, Hyperkalemic Periodic marker/mechanism
MESH:C538616 Paramyotonia congenita of Von Eulenburg marker/mechanism
MESH:D010300 Parkinson Disease Paraquat 2.8112911755 16510128 11124998 11181820 15451049 15824117 11445065 16140633
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.4416190885
MESH:D010538 Peritonitis Ozone 4.1416369182
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.506228378
MESH:D011014 Pneumonia Ozone 11.1318007984 18381685 18929643
MESH:D011014 Pneumonia Paraquat 11.1312504350
MESH:D011471 Prostatic Neoplasms Raloxifene 3.6116220300 15731164 16536755
MESH:D011537 Pruritus Ethinyl Estradiol 3.3315861022 16919318
MESH:D011658 Pulmonary Fibrosis Amiodarone 5.8412832656 12490602 11597910
MESH:D011658 Pulmonary Fibrosis Paraquat 5.8416324872 17997886
MESH:D011693 Purpura Raloxifene 5.5815770314
MESH:D015427 Reperfusion Injury pirinixic acid 2.3919058328
MESH:D012120 Respiration Disorders Chlorine 5.2418579056
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 3.9111700416
MESH:D012135 Respiratory Sounds Paraquat 4.0711874814
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 8.923692021
MESH:D012162 Retinal Degeneration Paraquat 8.9216458197
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.1018724381
MESH:D013088 Spermatocele Ethinyl Estradiol 3.9716709447
MESH:D013276 Stomach Ulcer Amiodarone 3.3218087811
MESH:D020521 Stroke Raloxifene 3.8216837676
MESH:D013610 Tachycardia Amiodarone 4.3011238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.2019225199
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6311994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1515669648
MESH:D013959 Thyroid Diseases Amiodarone 4.7919731979
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.893712494 7505956 6587162 6582329 1399818
MESH:D013971 Thyrotoxicosis Amiodarone 4.8719584973 18020914
MESH:D013978 Tibial Fractures Raloxifene 5.2419048282
MESH:D016171 Torsades de Pointes Amiodarone 4.2117467628 11989578
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.208074119
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 5.2017572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3114692618
MESH:D054556 Venous Thromboembolism Raloxifene 5.2416837676
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5414671159 15869587
MESH:D014846 Vulvar Neoplasms Raloxifene 5.5816343187
Pathway ID Pathway Name
REACT:18266 Axon guidance
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35006
    • No data
    No data
    Releated drug ID Related drug Name
    PA450488mexiletine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00818 antagonist Propofol Free Radical Scavengers;Hypnotics and Sedatives;Antiemetics;Anticonvulsants;Anesthetics, Intravenous
    DB00909 antagonist Zonisamide Antioxidants;Anticonvulsants
    DB01195 blocker Flecainide Antiarrhythmic Agents;Anti-Arrhythmia Agents
    DB06716 antagonist Fospropofol Hypnotics and Sedatives;Anesthetics, Intravenous
    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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