AutismKB 2.0

Annotation Detail for SCN2A


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Basic Information Top
Gene Symbol:SCN2A ( BFIC3,HBA,HBSCI,HBSCII,NAC2,Na(v)1.2,Nav1.2,SCN2A1,SCN2A2 )
Gene Full Name: sodium channel, voltage-gated, type II, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6326; OMIM: 182390; Uniprot ID:SCN2A_HUMAN; ENSEMBL ID: ENSG00000136531; HGNC ID: 10588
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1777Intractable epilepsy
1791Neuropathy
1977Rheumatism
1982Myopathy
1997Dental plaque
2124Autistic disorder
Desease Name
epilepsy
NEUROLOGICAL
No data
Desease Name
Convulsions, benign familial infantile, 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C047781 lamotrigine lamotrigine results in decreased activity of SCN2A proteindecreases activity 11212204
D010672 Phenytoin Phenytoin results in decreased activity of SCN2A proteindecreases activity 11212204
D012964 Sodium [SCN2A protein binds to SCN1B protein] which affects the transport of Sodiumaffects binding|affects transport 9236205
D013779 Tetrodotoxin Tetrodotoxin results in decreased activity of [SCN2A protein binds to SCN1B protein]affects binding|decreases activity 9236205
C028800 toxin II (Anemonia sulcata) toxin II (Anemonia sulcata) binds to and affects the activity of [SCN2A protein binds to SCN1B protein]affects activity|affects binding 9236205
D014635 Valproic Acid Valproic Acid results in increased expression of SCN2A mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenytoin 10.509677735 9118846 8986270 10563481 3425630 6195326
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 10.508875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2519490988
MESH:D000550 Amblyopia Valproic Acid 5.7517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.8317497229
MESH:D050197 Atherosclerosis Phenytoin 4.0915136057
MESH:D001321 Autistic Disorder Valproic Acid 1.9916609825 18396377 18775368 15238991 17688650 20603192 17157402 18558336 18177632 19460635 18985861 18940202 18316065 19232924 17507914
MESH:D001714 Bipolar Disorder Valproic Acid 3.2120046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.598888407
MESH:D002493 Central Nervous System Diseases Phenytoin 5.724080065
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8020734317
OMIM:601042 CHOREOATHETOSIS/SPASTICITY, EPISODIC Phenytoin 6.3311748493
MESH:D002971 Cleft Lip Phenytoin 4.292227380
MESH:D002972 Cleft Palate Phenytoin 3.856856622 3877104 2227380 10789828 6862529 1687470
MESH:D003103 Coloboma Phenytoin 5.489212184
MESH:D000013 Congenital Abnormalities Phenytoin 4.9810627286
MESH:D019465 Craniofacial Abnormalities Phenytoin 3.158986270 9212184 19952982
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.158888407 16575769 17688650
OMIM:607208 DRAVET SYNDROME Phenytoin 5.8111748493
MESH:D003875 Drug Eruptions Phenytoin 5.9215024534
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.241733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.401851702
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Phenytoin 5.0617654737
MESH:D004816 Epidermal Necrolysis, Toxic lamotrigine 13.3620235791
MESH:D004816 Epidermal Necrolysis, Toxic Phenytoin 13.3620235791
MESH:D004820 Epidermolysis Bullosa Phenytoin 6.756251365 1399206
MESH:D004831 Epilepsies, Myoclonic lamotrigine 12.9617275665
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 12.9617275665 3659116
MESH:D004828 Epilepsies, Partial lamotrigine 20.5317116037
MESH:D004828 Epilepsies, Partial Phenytoin 20.5311558140 17116037
MESH:D004828 Epilepsies, Partial Valproic Acid 20.533922381 16628512
MESH:D004827 Epilepsy marker/mechanism 16464983
MESH:D004827 Epilepsy lamotrigine 12.2519668019
MESH:D004827 Epilepsy Phenytoin 12.2520417680 11434505 821787
MESH:D004827 Epilepsy Valproic Acid 12.2518234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.876426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Phenytoin 13.127750514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 13.127750514
MESH:D004833 Epilepsy, Temporal Lobe lamotrigine 7.3616499746
MESH:D004830 Epilepsy, Tonic-Clonic Phenytoin 12.463659116
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 12.463659116
MESH:D005234 Fatty Liver Valproic Acid 3.6214986274 19224547
MESH:D005313 Fetal Death Phenytoin 5.5110627286
MESH:D005315 Fetal Diseases Valproic Acid 5.4116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.5118558336 8888407
MESH:D005885 Gingival Hyperplasia Phenytoin 6.139029455
MESH:D019214 Gingival Overgrowth Phenytoin 6.7516390469 14659971
MESH:D006849 Hydrocephalus Valproic Acid 5.3317688650
MESH:D020138 Hyperhomocysteinemia Phenytoin 4.9510459572
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1916294345 17596541
MESH:D008107 Liver Diseases Phenytoin 3.2714986274
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7817228818
MESH:D008607 Mental Retardation Phenytoin 3.759212184
MESH:D008881 Migraine Disorders Valproic Acid 3.4118803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.358888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3117596541
MESH:D020191 Myoclonic Epilepsies, Progressive Phenytoin 5.9817484760
MESH:D009224 Myotonia Congenita Phenytoin 5.871896199
MESH:D009436 Neural Tube Defects Phenytoin 8.359118846
MESH:D009436 Neural Tube Defects Valproic Acid 8.3516359493 8888407
MESH:D010018 Osteomalacia Phenytoin 5.8717016548
MESH:D010146 Pain Phenytoin 4.2415215642
MESH:D017689 Polydactyly Phenytoin 5.339212184
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2920603192
MESH:D019310 Pseudolymphoma Phenytoin 14.3712752131 1419762 8603615
MESH:D019310 Pseudolymphoma Valproic Acid 14.3711422049 12752131
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5319155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures lamotrigine 11.509844417 16499746
MESH:D012640 Seizures Phenytoin 11.5019919933 11044598 16876388 15946322 3691417 9844417 3137016 10029267
MESH:D012640 Seizures Valproic Acid 11.503137016 16876388 14763951 17978042 1511512 15475178 11044598 11738929
OMIM:607745 SEIZURES, BENIGN FAMILIAL INFANTILE, 3 marker/mechanism
OMIM:608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO lamotrigine 7.0120485159 19668019
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0219490988
MESH:D013226 Status Epilepticus Valproic Acid 5.0612833885
MESH:D013262 Stevens-Johnson Syndrome lamotrigine 13.3320235791
MESH:D013262 Stevens-Johnson Syndrome Phenytoin 13.3320235791
MESH:D014178 Translocation, Genetic Valproic Acid 5.7517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.983119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.068888407
Pathway ID Pathway Name
REACT:18266 Axon guidance
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35004
    • No data
    Releated disease ID Related disease Name
    PA444065Epilepsy
    PA444065Epilepsy
    Releated drug ID Related drug Name
    PA448785carbamazepine
    PA450164lamotrigine
    PA450732oxcarbazepine
    PA450947phenytoin
    PA451728topiramate
    PA448785carbamazepine
    PA450164lamotrigine
    PA450732oxcarbazepine
    PA450947phenytoin
    PA451728topiramate
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00555 antagonist Lamotrigine Antidepressants;Anticonvulsants;Analgesics;Calcium Channel Blockers;Antimanic Agents;Excitatory Amino Acid Antagonists
    DB00818 antagonist Propofol Free Radical Scavengers;Hypnotics and Sedatives;Antiemetics;Anticonvulsants;Anesthetics, Intravenous
    DB00909 antagonist Zonisamide Antioxidants;Anticonvulsants
    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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