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Aliases for SCN2A Gene

Aliases for SCN2A Gene

  • Sodium Voltage-Gated Channel Alpha Subunit 2 2 3 5
  • Sodium Channel, Voltage-Gated, Type II, Alpha 2 Polypeptide 2 3
  • Sodium Channel, Voltage-Gated, Type II, Alpha 1 Polypeptide 2 3
  • Sodium Channel, Voltage-Gated, Type II, Alpha Subunit 2 3
  • Voltage-Gated Sodium Channel Subunit Alpha Nav1.2 3 4
  • Sodium Channel Protein Brain II Subunit Alpha 3 4
  • Sodium Channel Protein Type II Subunit Alpha 3 4
  • HBSC II 3 4
  • SCN2A1 3 4
  • SCN2A2 3 4
  • NAC2 3 4
  • Sodium Channel, Voltage Gated, Type II Alpha Subunit 2
  • Sodium Channel Protein, Brain Type 2 Alpha Subunit 3
  • Voltage-Gated Sodium Channel Type II Alpha Subunit 3
  • Sodium Channel Protein Type 2 Subunit Alpha 3
  • Voltage-Gated Sodium Channel Subtype II 3
  • Na(V)1.2 3
  • EIEE11 3
  • HBSCII 3
  • Nav1.2 3
  • HBSCI 3
  • BFIC3 3
  • BFIS3 3
  • BFNIS 3
  • HBA 3

External Ids for SCN2A Gene

Previous HGNC Symbols for SCN2A Gene

  • SCN2A1
  • SCN2A2

Previous GeneCards Identifiers for SCN2A Gene

  • GC02P165805
  • GC02P166095
  • GC02P157978

Summaries for SCN2A Gene

Entrez Gene Summary for SCN2A Gene

  • Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

GeneCards Summary for SCN2A Gene

SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2) is a Protein Coding gene. Diseases associated with SCN2A include Seizures, Benign Familial Infantile, 3 and Epileptic Encephalopathy, Early Infantile, 11. Among its related pathways are Cardiac conduction and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCN1A.

UniProtKB/Swiss-Prot for SCN2A Gene

  • Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.

Tocris Summary for SCN2A Gene

  • Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear.

Gene Wiki entry for SCN2A Gene

Additional gene information for SCN2A Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN2A Gene

Genomics for SCN2A Gene

GeneHancer (GH) Regulatory Elements for SCN2A Gene

Promoters and enhancers for SCN2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I165294 Promoter 1.5 EPDnew Ensembl 550.1 +164.0 163951 0.2 DRAP1 ELF3 CTCF MXI1 FOXA2 ZNF384 ZBTB40 RAD21 ZNF7 ETS1 GC02P165294 GC02P165295 SCN2A GC02M165331
GH02I165239 Promoter/Enhancer 1.1 VISTA EPDnew 550.1 +110.3 110253 2.2 CTCF MXI1 PKNOX1 ZNF654 TRIM22 MIER2 REST RAD21 POLR2A ZNF143 SCN2A SCN3A GC02P165275 GC02P165274 GC02M165203 GC02M165204
GH02I165295 Promoter 0.5 EPDnew 550.1 +165.7 165651 0.1 GC02P165294 GC02P165295 SCN2A GC02M165331
GH02I165469 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 4.2 +339.7 339652 1.2 PKNOX1 TAF1 ZNF384 FEZF1 RAD21 YY1 ZNF335 ZNF213 ZNF366 POLR2A CSRNP3 SCN2A GC02P165687
GH02I165196 Promoter 0.5 EPDnew 10.1 +66.4 66405 0.1 SCN3A SCN2A GC02M165149 ENSG00000236283
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SCN2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCN2A gene promoter:

Genomic Locations for SCN2A Gene

Genomic Locations for SCN2A Gene
chr2:165,130,149-165,392,310
(GRCh38/hg38)
Size:
262,162 bases
Orientation:
Plus strand
chr2:166,095,912-166,248,820
(GRCh37/hg19)

Genomic View for SCN2A Gene

Genes around SCN2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN2A Gene

Proteins for SCN2A Gene

  • Protein details for SCN2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99250-SCN2A_HUMAN
    Recommended name:
    Sodium channel protein type 2 subunit alpha
    Protein Accession:
    Q99250
    Secondary Accessions:
    • A6NC14
    • A6NIQ5
    • Q14472
    • Q53T77
    • Q9BZC9
    • Q9BZD0

    Protein attributes for SCN2A Gene

    Size:
    2005 amino acids
    Molecular mass:
    227975 Da
    Quaternary structure:
    • Heterooligomer of a large alpha subunit and a smaller beta subunit. Heterooligomer with SCN2B or SCN4B; disulfide-linked. Interacts with NEDD4L. Interacts with CALM. Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the spider beta/delta-theraphotoxin-Pre1a (PubMed:28428547).
    SequenceCaution:
    • Sequence=CAA46438.1; Type=Frameshift; Positions=1953; Evidence={ECO:0000305}; Sequence=CAA46438.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SCN2A Gene

    Alternative splice isoforms for SCN2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN2A Gene

Post-translational modifications for SCN2A Gene

  • May be ubiquitinated by NEDD4L; which would promote its endocytosis.
  • Phosphorylation at Ser-1506 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.
  • Glycosylation at isoforms=212, posLast=285285, posLast=291291, isoforms=2297, posLast=303303, posLast=308308, isoforms=2340, posLast=13681368, posLast=13821382, and isoforms=21393
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SCN2A Gene

Domains & Families for SCN2A Gene

Gene Families for SCN2A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Graphical View of Domain Structure for InterPro Entry

Q99250

UniProtKB/Swiss-Prot:

SCN2A_HUMAN :
  • The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.
Domain:
  • The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.
genes like me logo Genes that share domains with SCN2A: view

Function for SCN2A Gene

Molecular function for SCN2A Gene

UniProtKB/Swiss-Prot Function:
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.

Phenotypes From GWAS Catalog for SCN2A Gene

Gene Ontology (GO) - Molecular Function for SCN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005248 voltage-gated sodium channel activity TAS,ISS --
GO:0005272 sodium channel activity IEA --
genes like me logo Genes that share ontologies with SCN2A: view
genes like me logo Genes that share phenotypes with SCN2A: view

Human Phenotype Ontology for SCN2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCN2A Gene

MGI Knock Outs for SCN2A:

miRNA for SCN2A Gene

miRTarBase miRNAs that target SCN2A

Clone Products

  • Addgene plasmids for SCN2A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCN2A Gene

Localization for SCN2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN2A Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCN2A gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SCN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IEA --
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 1325650
GO:0014704 intercalated disc IEA --
genes like me logo Genes that share ontologies with SCN2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCN2A Gene

Pathways & Interactions for SCN2A Gene

genes like me logo Genes that share pathways with SCN2A: view

Pathways by source for SCN2A Gene

Gene Ontology (GO) - Biological Process for SCN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport TAS 1325650
GO:0007399 nervous system development IEA --
GO:0008627 intrinsic apoptotic signaling pathway in response to osmotic stress IEA --
genes like me logo Genes that share ontologies with SCN2A: view

No data available for SIGNOR curated interactions for SCN2A Gene

Drugs & Compounds for SCN2A Gene

(25) Drugs for SCN2A Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lamotrigine Approved, Investigational Pharma Target, inhibitor, blocker 5-HT inhibitor 189
Zonisamide Approved, Investigational Pharma Target, inhibitor, blocker Antiepileptic with anticonvulsant and mechanistic effect 69
Phenytoin Approved, Vet_approved Pharma Pore Blocker, blocker 79
Propofol Approved, Investigational, Vet_approved Pharma Target, inhibitor 1189
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333

(3) Additional Compounds for SCN2A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
4-Hydroxypropofol

(3) Tocris Compounds for SCN2A Gene

Compound Action Cas Number
Amiloride hydrochloride Na+ channel blocker; also I2 imidazoline ligand 2016-88-8
Carbamazepine Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 298-46-4
Vinpocetine Na+ channel blocker 42971-09-5
genes like me logo Genes that share compounds with SCN2A: view

Transcripts for SCN2A Gene

Unigene Clusters for SCN2A Gene

Sodium channel, voltage-gated, type II, alpha subunit:
Representative Sequences:

Clone Products

  • Addgene plasmids for SCN2A

Alternative Splicing Database (ASD) splice patterns (SP) for SCN2A Gene

No ASD Table

Relevant External Links for SCN2A Gene

GeneLoc Exon Structure for
SCN2A
ECgene alternative splicing isoforms for
SCN2A

Expression for SCN2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCN2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCN2A Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x11.2), Brain - Cerebellum (x10.3), Brain - Frontal Cortex (BA9) (x5.3), and Brain - Anterior cingulate cortex (BA24) (x4.5).

Protein differential expression in normal tissues from HIPED for SCN2A Gene

This gene is overexpressed in Frontal cortex (55.6) and Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCN2A Gene



Protein tissue co-expression partners for SCN2A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCN2A Gene:

SCN2A

SOURCE GeneReport for Unigene cluster for SCN2A Gene:

Hs.93485

Evidence on tissue expression from TISSUES for SCN2A Gene

  • Nervous system(4.9)
  • Blood(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN2A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SCN2A: view

No data available for mRNA Expression by UniProt/SwissProt for SCN2A Gene

Orthologs for SCN2A Gene

This gene was present in the common ancestor of animals.

Orthologs for SCN2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN2A 33 34
  • 99.77 (n)
oppossum
(Monodelphis domestica)
Mammalia SCN2A 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCN2A 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCN2A 33 34
  • 93.63 (n)
dog
(Canis familiaris)
Mammalia SCN2A 33 34
  • 93.15 (n)
mouse
(Mus musculus)
Mammalia Scn2a1 33 34
  • 89.46 (n)
Scn2a 16
rat
(Rattus norvegicus)
Mammalia Scn2a1 33
  • 88.74 (n)
chicken
(Gallus gallus)
Aves SCN2A 33 34
  • 83.59 (n)
lizard
(Anolis carolinensis)
Reptilia SCN2A 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn3a 33
  • 75.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia scn2a2-A 33
zebrafish
(Danio rerio)
Actinopterygii scn1lab 33 34
  • 71.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004707 33
  • 55.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta para 33
  • 54.47 (n)
Species where no ortholog for SCN2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCN2A Gene

ENSEMBL:
Gene Tree for SCN2A (if available)
TreeFam:
Gene Tree for SCN2A (if available)

Paralogs for SCN2A Gene

(11) SIMAP similar genes for SCN2A Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SCN2A Gene

genes like me logo Genes that share paralogs with SCN2A: view

Variants for SCN2A Gene

Sequence variations from dbSNP and Humsavar for SCN2A Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1007722 benign, Early Infantile Epileptic Encephalopathy, Autosomal Dominant, Benign familial neonatal-infantile seizures 165,391,537(+) G/A 3_prime_UTR_variant
rs1051558412 uncertain-significance, Benign familial neonatal-infantile seizures, Early Infantile Epileptic Encephalopathy, Autosomal Dominant 165,391,257(+) A/G 3_prime_UTR_variant
rs1057518658 pathogenic, Autism 165,331,409(+) AC/ coding_sequence_variant, frameshift
rs1057519010 likely-pathogenic, intellectual deficiency 165,374,775(+) GGAGTGAATCTCT/ coding_sequence_variant, frameshift
rs1057519523 pathogenic, Malignant migrating partial seizures of infancy, encephalopathy, early infantile, 11 (EIEE11) [MIM:613721] 165,373,342(+) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SCN2A Gene

Variant ID Type Subtype PubMed ID
dgv1179e212 CNV loss 25503493
esv5728 CNV gain 19470904
nsv526967 CNV loss 19592680
nsv528928 CNV loss 19592680
nsv963743 CNV duplication 23825009
nsv979143 CNV duplication 23825009

Variation tolerance for SCN2A Gene

Residual Variation Intolerance Score: 1.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.25; 70.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCN2A Gene

Human Gene Mutation Database (HGMD)
SCN2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN2A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN2A Gene

Disorders for SCN2A Gene

MalaCards: The human disease database

(30) MalaCards diseases for SCN2A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
seizures, benign familial infantile, 3
  • bfis3
epileptic encephalopathy, early infantile, 11
  • eiee11
autism
  • autistic disorder
malignant migrating partial seizures of infancy
  • early infantile epileptic encephalopathy 14
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search SCN2A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCN2A_HUMAN
  • Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]: An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269 PubMed:19783390, ECO:0000269 PubMed:19786696, ECO:0000269 PubMed:20956790, ECO:0000269 PubMed:22677033, ECO:0000269 PubMed:23033978, ECO:0000269 PubMed:23195492, ECO:0000269 PubMed:23550958, ECO:0000269 PubMed:23662938, ECO:0000269 PubMed:23708187, ECO:0000269 PubMed:23935176, ECO:0000269 PubMed:23988467, ECO:0000269 PubMed:24463883, ECO:0000269 PubMed:24579881, ECO:0000269 PubMed:24659627, ECO:0000269 PubMed:24710820, ECO:0000269 PubMed:25457084, ECO:0000269 PubMed:25818041, ECO:0000269 PubMed:26138355, ECO:0000269 PubMed:26291284, ECO:0000269 PubMed:26993267, ECO:0000269 PubMed:27864847}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in SCN2A are associated with autism spectrum disorders (ASD). It seems that mutations resulting in sodium channel gain of function and increased neuron excitability lead to infantile seizures, whereas variants resulting in sodium channel loss of function and decrease neruon excitability are associated with ASD. {ECO:0000269 PubMed:28256214}.
  • Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant. {ECO:0000269 PubMed:11371648, ECO:0000269 PubMed:12243921, ECO:0000269 PubMed:15048894, ECO:0000269 PubMed:16417554, ECO:0000269 PubMed:17021166, ECO:0000269 PubMed:17386050, ECO:0000269 PubMed:18479388, ECO:0000269 PubMed:20371507, ECO:0000269 PubMed:22612257, ECO:0000269 PubMed:23360469, ECO:0000269 PubMed:23758435, ECO:0000269 PubMed:25982755, ECO:0000269 PubMed:26291284}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SCN2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SCN2A: view

No data available for Genatlas for SCN2A Gene

Publications for SCN2A Gene

  1. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. (PMID: 15028761) Kamiya K … Yamakawa K (The Journal of neuroscience : the official journal of the Society for Neuroscience 2004) 3 4 22 58
  2. The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy. (PMID: 11738931) Haug K … Heils A (Epilepsy research 2001) 3 4 44 58
  3. Differential expression of two sodium channel subtypes in human brain. (PMID: 1317301) Lu CM … Brown GB (FEBS letters 1992) 2 3 4 58
  4. Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. (PMID: 28256214) Ben-Shalom R … Bender KJ (Biological psychiatry 2017) 3 4 58
  5. Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation. (PMID: 26555645) Carroll LS … Owen MJ (Psychiatric genetics 2016) 3 4 58

Products for SCN2A Gene

  • Addgene plasmids for SCN2A

Sources for SCN2A Gene

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