Property Summary

NCBI Gene PubMed Count 84
PubMed Score 1152.72
PubTator Score 284.73

Knowledge Summary

Patent (38,770)


  Disease (6)

Disease Target Count
Epilepsy 346
Administration of Corneal Anesthesia 6
Administration of Local Anesthetic Nerve Block 14
Administration of Regional Anesthesia 7
Anesthesia for cesarean section 8
Atrial Fibrillation 110
Bipolar disorder in remission 19
Cardioversion of Atrial Fibrillation 9
Cough 21
Dysuria 24
Epilepsy characterized by intractable complex partial seizures 28
Hemorrhoids 13
Infestation by Phthirus pubis 7
Infestation by Sarcoptes scabiei var hominis 7
Itching of skin 19
Lennox-Gastaut syndrome 34
Life-Threatening Ventricular Tachycardia 15
Local Anesthesia for Endotracheal Intubation 6
Local Anesthesia for Ophthalmologic Procedure 7
Local Anesthesia for Urethral Pain 6
Local anesthesia 40
Local anesthesia, by infiltration 14
Local anesthetic intrathecal block 7
Localization-related epilepsy 13
Major Nerve Block for Surgery 8
Malaria 140
Minor Skin Wound Pain 12
Motor cortex epilepsy 10
Mouth Irritation 12
Neuralgia 16
Partial seizure 15
Pediculosis capitis 7
Postherpetic neuralgia 12
Premature ejaculation 16
Prevent Minor Bacterial Skin Infection 10
Prevention of Seizures following Cranial Trauma or Surgery 7
Pruritus ani 14
Pseudobulbar affect 5
Regional Anesthesia for Labor Pain 9
Regional Anesthesia for Ophthalmologic Surgery 6
Regional Anesthesia for Postoperative Pain 9
Regional Anesthesia for Surgery 9
Seizures in Neurosurgery 7
Simple partial seizure 26
Skin irritation 12
Sore throat symptom 12
Status Epilepticus 85
Suppression of the Gag Reflex 12
Tinea Infections 10
Tinea corporis 25
Tinea pedis 30
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Urethritis 10
Urinary Tract Irritation 24
Ventricular arrhythmia 14
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0


  Differential Expression (18)

Disease log2 FC p
malignant mesothelioma -2.500 1.6e-05
astrocytic glioma -3.100 3.0e-03
posterior fossa group A ependymoma -5.700 5.2e-19
oligodendroglioma -2.800 1.9e-14
glioblastoma -5.100 1.6e-05
osteosarcoma -1.301 6.3e-04
sonic hedgehog group medulloblastoma -6.000 9.2e-09
atypical teratoid / rhabdoid tumor -5.700 7.2e-08
medulloblastoma, large-cell -5.800 6.6e-08
primitive neuroectodermal tumor -2.300 8.9e-03
lung cancer 1.900 4.9e-05
pediatric high grade glioma -4.400 1.5e-06
pilocytic astrocytoma -2.200 4.0e-06
non primary Sjogren syndrome sicca -1.200 2.0e-02
subependymal giant cell astrocytoma -4.158 4.7e-02
lung carcinoma 4.000 1.8e-41
Breast cancer -2.200 3.0e-14
psoriasis 2.000 5.1e-27

Gene RIF (65)

26637798 This study provide the evidence SCN2A mutation releate to Autism Spectrum Disorder.
26555645 We argue that very rare, loss-of-function mutations at SCN2A act in a moderately penetrant manner to increase the risk of developing several neuropsychiatric disorders including seizure disorders, intellectual disability, autism and schizophrenia.
26311622 Mutations in SCN1A and SCN2A are a predisposing factor of acute encephalopathy with biphasic seizures and late reduced diffusion
26291284 SCN2A is the second most common cause of epilepsy of infancy with migrating focal seizures
25998125 Two lysine residues (residues 105-106)of AnkG are critical for Nav1.2 but not KCNQ3 channel binding.
25961639 Findings provide convergent evidence that a common polymorphism in SCN2A accounts for significant interindividual variability in human general cognitive ability, possibly by modulating prefrontal cortex physiology
25818041 Epileptic encephalopathy related to mutations in the SCN2A genes.
25459969 A heterozygous mutation (c.3631G > A; p.E1211K) was identified in exon 21 of SCN2A gene. This is the first case of SCN2A mutation identified in Chinese.
25457084 Case suggests that SCN2A mutations might predispose children to repetitive encephalopathy with variable clinical and imaging findings.
25155934 the mechanism of AED resistance remains uncertain, which led us to evaluate the impact of polymorphisms of the SCN1A, SCN2A and ABCC2 genes on the AED response in Chinese Han patients with epilepsy in the present study.
24718902 identified common variants in SCN2A that, in the context of schizophrenia and risk for schizophrenia, show substantial and consistent associations with broad cognitive performance, brain physiology, and mRNA expression in the brain.
24659627 mutation of SCN2A is associated with a range of epilepsy phenotypes including severe infantile-onset epilepsy
24579881 Exome sequencing reveals a de novo mutation in SCN2A linked to a genetically heterogeneous disorder with epilepsy and intellectual disability, expanding the phenotype of SCN2A mutations.
24337656 sodium channel polymorphisms are associated with epilepsy
24220630 Following SCN2A knockdown, the concentration of Cu-Zn SOD declined and the si-SCN2A vector group showed a repeated discharge.
23935176 SCN2A mutations are an important genetic cause of Ohtahara syndrome. Given the wide clinical spectrum associated with SCN2A mutations, genetic testing for SCN2A should be considered for children with different epileptic conditions.
23859570 Our data from the Hong Kong and Malaysia cohorts showed no significant allele, genotype and haplotype association of polymorphisms in the SCN1A, SCN2A, and SCN3A genes with drug responsiveness in epilepsy.
23827426 An SCN2A missense mutation is associated with infantile spasms and bitemporal hypometabolism.
23758435 Mutation of SCN2A induces neuronal hyperexcitability, resulting in infantile epilepsy with favorable outcome
23550958 study identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin
23360469 Identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6 and 8 months provides further confirmation that this gene is involved in families with a delayed age of onset.
23016767 This study demonistrated that associated with a duplication of the SCN2A and SCN3A gene cluster on 2q24 in patient with early onset epilepsy.
22677033 This study demonistrated the detailed functional analysis of Na(v)1.2 mutant, R1312T, which was originally found in a child with Dravet syndrome.
22591750 This finding suggests that SCN2A mutation is a predisposing factor for acute encephalopathy.
22525008 The results of this study shown that both A1685V (GEFS+) and A1685D (SMEI) mutant Nav1.1 channels are characterized by complete loss of function when they are expressed alone
22495306 association of the gene SCN2A, previously identified in epilepsy syndromes, with the risk of autism
22029951 Functional studies of SCN2A mutations show that they can cause divergent biophysical defects in Na(V)1.2 and impair cell surface expressions[review]
21762452 Environmental enrichment from birth reduces spontaneous seizures and neuronal damage in the Q54 model of temporal lobe epilepsy.
21439835 Thermodynamic and structural studies of Calmodulin (CaM)-Na(v)1.2(IQp) interactions show that apo and (Ca(2+))(4)-CaM adopt distinct conformations that both permit tight association with Na(v)1.2(IQp) during gating.
21377452 We studied the developmental changes of Na(v)1.1 and Na(v)1.2 in the human hippocampus and temporal lobe
21156207 Genetic variants in the voltage-gated ion channel SCN2A dramatically influence the phenotype of mice carrying an SCN1A mutation as well as the seizures caused by the SCN1A mutation.
20602612 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20371507 Transient expression of seizures occur due to a gain-of-function of mutant Na(V)1.2 channel.
20346423 Deletions in SCN2A gene is associated with autistic features and developmental delay.
19786696 de novo mutations SCN2A-E1211K, -I1473M, and -R102X indicate that SCN2A is an etiologic candidate underlying a variety of intractable childhood epilepsies
19783390 This finding suggests that both nonsense mutations and missense SCN2A mutations cause Dravet syndrome.
19743470 The direct effect of heat on Nav1.2 channels localized to the site of action potential initiation potentially causes a profound increase in neuronal excitability. This is likely to contribute to febrile seizure genesis.
19738391 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19694741 Observational study of gene-disease association. (HuGE Navigator)
19465131 Data demonstrate that the two N-terminal alternatively spliced FGF14 variants, FGF14-1a and FGF14-1b, differentially regulate currents produced by Nav1.2 and Nav1.6 channels.
19401682 Observational study of gene-disease association. (HuGE Navigator)
19270815 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19129176 Clinically significant mutations identified in the C-terminal region of NaV1 sodium channels cluster in the helix I-IV interface and the helix II-III interhelical segment or in helices III and IV of the NaV1.2 (1777-1882) structure.
18784617 The association of antiepileptic drugs responsiveness with genetic polymorphisms was investigated and any association with mRNA expression of the neuronal sodium channels was correlated.
18784617 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18479388 SCN2A gene mutations are associated with inherited benign neonatal-infantile epilepsy.
17805013 Nav1.2 immunostaining was not observed along demyelinated axons in chronic lesions but was expressed by scar and reactive astrocytes within the plaque.
17715289 Observational study of gene-disease association. (HuGE Navigator)
17715289 Allele frequencies of both the D2S111 and the D2S124 polymorphisms of the SCN2A gene were not significantly different between cases with a specific idiopathic generalized epilepsy subtype (with generalized tonic-clonic seizures) and healthy controls.
17641256 Observational study of gene-disease association. (HuGE Navigator)
17641256 In south china, the R188W mutation of the SCN2A gene not releate to children with febrile seizures.
17544618 Characterization of 5' untranslated regions SCN2A, and identification of cis-conserved noncoding sequences
17467289 analysis of neonatal & adult splice forms of NaV1.2 with a benign familial neonatal-infantile seizures mutation; developmentally regulated NaV1.2 splicing may be one mechanism that counters the normally high excitability of neonatal neurons
17386050 two large families with benign familial neonatal-infantile seizure (BFNIS) and novel SCN2A mutations; the families had 12 & 9 affected individuals, respectively, with phenotypes consistent with BFNIS; two mutations were discovered in SCN2A (E430Q; I1596S)
16914293 The SCN2A gene was tested for a possible role in hippocampal abnormalities in familial mesial temporal lobe epilepsy. We conclusively ruled out the SCN2A gene as a candidate in FMTLE.
16847056 Data show that the varied effects of beta1 and beta2 on Nav1.5 and Nav1.2 gating are apparently synergistic and highlight the complex manner, through subunit- and sugar-dependent mechanisms, by which Nav activity is modulated.
16464983 Genetic interaction between the combined mild alleles of monogenic epilepsy genes KCNQ2 and SCN2A1 results in severe epilepsy in transgenic mice.
16052353 Although data suggest that SCN2A1 activity does not directly influence membrane potential, intracellular Ca(2+) release, or proliferation in normal human pulmonary artery smooth muscle cells, its physiological functions remain unresolved.
15316014 Calmodulin mediates Ca2+ sensitivity of Nav1.2 and Nav1.5 sodium channels
15249644 a role for the hemizygous deletion of not one but two sodium channel genes (SCN1A and SCN2A) in another complicated and more severe epileptic phenotype.
15028761 We found a nonsense mutation of SCN2A in a patient with intractable epilepsy and severe mental decline. The phenotype is like severe myoclonic epilepsy in infancy but distinct because of partial epilepsy, delayed onset and no temperature sensitivity
12610651 in autism families, the variant R1902C in SCN2A is located in the calmodulin binding site and was found to reduce binding affinity for calcium-bound calmodulin.
12165424 Observational study of gene-disease association. (HuGE Navigator)
11738931 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence


Text Mined References (89)

PMID Year Title
26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
26555645 2016 Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.
26311622 2015 Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
26291284 2015 SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
25998125 2015 An Ankyrin-G N-terminal Gate and Protein Kinase CK2 Dually Regulate Binding of Voltage-gated Sodium and KCNQ2/3 Potassium Channels.
25961639 2015 A Common Polymorphism in SCN2A Predicts General Cognitive Ability through Effects on PFC Physiology.
25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25459969 2015 SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.
25457084 2015 A case of recurrent encephalopathy with SCN2A missense mutation.
25344690 2014 Common variants associated with general and MMR vaccine-related febrile seizures.
25155934 2014 Association of SCN1A, SCN2A and ABCC2 gene polymorphisms with the response to antiepileptic drugs in Chinese Han patients with epilepsy.
24718902 2014 Differential effects of common variants in SCN2A on general cognitive ability, brain physiology, and messenger RNA expression in schizophrenia cases and control individuals.
24659627 2014 Confirming an expanded spectrum of SCN2A mutations: a case series.
24579881 2014 Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
24337656 2014 Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.
24297919 2013 Crystallographic insights into sodium-channel modulation by the ?4 subunit.
24220630 2014 Regulation of Cu-Zn superoxide dismutase on SCN2A in SH-SY5Y cells as a potential therapy for temporal lobe epilepsy.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23935176 2013 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
23859570 2013 SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.
23827426 2013 SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism.
23758435 2013 An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.
23550958 2013 Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
23016767 2012 Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.
22677033 2012 Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.
22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22591750 2012 Acute encephalopathy with a novel point mutation in the SCN2A gene.
22525008 2012 Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects.
22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
22029951 2012 Clinical spectrum of SCN2A mutations.
21762452 2011 Environmental enrichment reduces spontaneous seizures in the Q54 transgenic mouse model of temporal lobe epilepsy.
21439835 2011 Structural and energetic determinants of apo calmodulin binding to the IQ motif of the Na(V)1.2 voltage-dependent sodium channel.
21377452 2011 The developmental changes of Na(v)1.1 and Na(v)1.2 expression in the human hippocampus and temporal lobe.
21156207 2011 Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.
20956790 2010 SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
20602612 2010 Genetic profile of patients with epilepsy on first-line antiepileptic drugs and potential directions for personalized treatment.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20371507 2010 Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
20346423 Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.
19786696 2009 De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
19783390 2009 Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
19743470 2009 Heat opens axon initial segment sodium channels: a febrile seizure mechanism?
19738391 2009 Liability of the voltage-gated sodium channel gene SCN2A R19K polymorphism to oxaliplatin-induced peripheral neuropathy.
19694741 2009 Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population.
19465131 2009 FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels.
19401682 2010 High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.
19270815 2009 Gene-to-gene interaction between sodium channel-related genes in determining the risk of antiepileptic drug resistance.
19129176 2009 Solution structure of the NaV1.2 C-terminal EF-hand domain.
18784617 2008 Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.
18479388 2008 Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
17805013 2007 Sodium channel expression within chronic multiple sclerosis plaques.
17715289 2007 Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic clonic seizures.
17641256 2007 Association analysis of gamma2 subunit of gamma-aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II alpha-polypeptide gene mutation in southern Chinese children with febrile seizures.
17544618 2007 Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences.
17467289 2007 A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.
17386050 2007 SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
16914293 2006 THE SCN2A gene is not a likely candidate for familial mesial temporal lobe epilepsy.
16847056 2006 Isoform-specific effects of the beta2 subunit on voltage-gated sodium channel gating.
16652168 2006 Early events in node of Ranvier formation during myelination and remyelination in the PNS.
16464983 2006 Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.
16417554 2006 A novel SCN2A mutation in family with benign familial infantile seizures.
16382098 2005 International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
16052353 2005 Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15316014 2004 Calmodulin mediates Ca2+ sensitivity of sodium channels.
15249644 2004 Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.
15048894 2004 Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
15028761 2004 A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
12930796 2003 Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2.
12610651 2003 Sodium channels SCN1A, SCN2A and SCN3A in familial autism.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12243921 2002 Sodium-channel defects in benign familial neonatal-infantile seizures.
12165424 2002 Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans.
11738931 2001 The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.
11371648 2001 A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
11326335 2001 Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.
11245985 2001 Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.
11000491 2000 Identifying the promoter region of the human brain sodium channel subtype II gene (SCN2A).
10486327 1999 A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.
10344788 1998 Isolation of the 5'-flanking region for human brain sodium channel subtype II alpha-subunit.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
2571571 1989 Localization of a human brain sodium channel gene (SCN2A) to chromosome 2.
1846440 1991 Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23.
1325650 1992 Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.
1317301 1992 Differential expression of two sodium channel subtypes in human brain.