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Aliases for SCN2A Gene

Aliases for SCN2A Gene

  • Sodium Voltage-Gated Channel Alpha Subunit 2 2 3
  • Sodium Channel, Voltage Gated, Type II Alpha Subunit 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 Protein, Brain Type 2 Alpha Subunit 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 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

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 Taste transduction and Neuroscience. GO annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is CACNA1G.

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

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

Genomics for SCN2A Gene

Regulatory Elements for SCN2A Gene

Enhancers for SCN2A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SCN2A on UCSC Golden Path with GeneCards custom track

Genomic Location for SCN2A Gene

Chromosome:
2
Start:
165,130,149 bp from pter
End:
165,392,310 bp from pter
Size:
262,162 bases
Orientation:
Plus strand

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:
    • Interacts with NEDD4L. Interacts with CALM (By similarity). Heterooligomer of a large alpha subunit and a smaller beta subunit. Heterooligomer with SCN4B; disulfide-linked.
    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

Proteomics data for SCN2A Gene at MOPED

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 Asn 212, Asn 285, Asn 291, Asn 297, Asn 303, Asn 308, Asn 340, Asn 1368, Asn 1382, and Asn 1393
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SCN2A (SCN2A)

No data available for DME Specific Peptides for SCN2A Gene

Domains & Families for SCN2A Gene

Gene Families for SCN2A Gene

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.
  • Contains 1 IQ domain.
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.
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for SCN2A

miRNA for SCN2A Gene

miRTarBase miRNAs that target SCN2A

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SCN2A Gene 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:0005887 integral component of plasma membrane TAS 1325650
GO:0014704 intercalated disc IEA --
GO:0016020 membrane IEA --
GO:0030315 T-tubule IEA --
genes like me logo Genes that share ontologies with SCN2A: view

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:0006814 sodium ion transport IEA,TAS 1325650
GO:0007399 nervous system development IEA --
GO:0019228 neuronal action potential IBA --
GO:0034220 ion transmembrane transport IEA --
GO:0042552 myelination ISS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lamotrigine Approved, Investigational Pharma blocker, Target, inhibitor 5-HT inhibitor 181
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 65
Phenytoin Approved Pharma Pore Blocker, blocker 74
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 312
Propofol Approved, Investigational Pharma inhibitor, Target 962

(5) Additional Compounds for SCN2A Gene - From: Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
4-Hydroxypropofol
Amiloride hydrochloride
2016-88-8
Flunarizine dihydrochloride
30484-77-6
Riluzole hydrochloride
850608-87-6

(5) Tocris Compounds for SCN2A Gene

Compound Action Cas Number
Amiloride hydrochloride Na+ channel blocker; also I2 imidazoline ligand 2016-88-8
Flunarizine dihydrochloride Dual Na+/Ca2+ channel (T-type) blocker 30484-77-6
Riluzole hydrochloride Glutamate release inhibitor/GABA uptake inhibitor 850608-87-6
Veratridine Voltage-gated Na+ channel opener 71-62-5
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:

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 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



SOURCE GeneReport for Unigene cluster for SCN2A Gene Hs.93485

genes like me logo Genes that share expression patterns with SCN2A: view

Protein tissue co-expression partners for SCN2A Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia SCN2A 35
  • 93.63 (n)
  • 98.75 (a)
SCN2A 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCN2A 35
  • 93.15 (n)
  • 98.65 (a)
SCN2A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scn2a1 35
  • 89.46 (n)
  • 98.1 (a)
Scn2a1 16
Scn2a1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCN2A 35
  • 99.77 (n)
  • 99.9 (a)
SCN2A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scn2a1 35
  • 88.74 (n)
  • 97.85 (a)
oppossum
(Monodelphis domestica)
Mammalia SCN2A 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCN2A 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCN2A 35
  • 83.59 (n)
  • 92.27 (a)
SCN2A 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCN2A 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn3a 35
  • 75.66 (n)
  • 83.08 (a)
African clawed frog
(Xenopus laevis)
Amphibia scn2a2-A 35
zebrafish
(Danio rerio)
Actinopterygii scn1lab 35
  • 71.88 (n)
  • 80.42 (a)
scn1lab 36
  • 81 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004707 35
  • 55.66 (n)
  • 51.72 (a)
fruit fly
(Drosophila melanogaster)
Insecta para 35
  • 54.47 (n)
  • 49.34 (a)
Species with no ortholog for SCN2A:
  • 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:

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 Sequence Context AA Info Type
rs17183814 - 165,295,879(+) TACCA(A/G)GGAAT reference, missense, splice-acceptor-variant
VAR_029733 Seizures, benign familial infantile 3 (BFIS3)
VAR_029734 Seizures, benign familial infantile 3 (BFIS3)
rs2228988 - 165,313,739(+) AGACT(A/T)CTGGG reference, missense
rs186154973 - 165,315,658(+) AGTCC(A/G)AAAAT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv528928 CNV Loss 19592680
nsv526967 CNV Loss 19592680
nsv875368 CNV Loss 21882294
dgv4354n71 CNV Loss 21882294
esv5728 CNV Gain 19470904

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)

Relevant External Links for SCN2A Gene

HapMap Linkage Disequilibrium report
SCN2A
Human Gene Mutation Database (HGMD)
SCN2A

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

Disorders for SCN2A Gene

MalaCards: The human disease database

(20) MalaCards diseases for SCN2A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
seizures, benign familial infantile, 3
  • benign familial neonatal-infantile seizures
epileptic encephalopathy, early infantile, 11
  • eiee11
benign familial infantile epilepsy
  • benign familial infantile convulsion
west syndrome
  • epileptic encephalopathy, early infantile, 1
dravet syndrome
  • dravet syndrome, modifier of
- 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:23550958, ECO:0000269 PubMed:23935176}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seizures, benign familial infantile 3 (BFIS3) [MIM:607745]: An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. {ECO:0000269 PubMed:11371648, ECO:0000269 PubMed:12243921, ECO:0000269 PubMed:15048894, ECO:0000269 PubMed:20371507, ECO:0000269 PubMed:22612257}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCN2A

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

No data available for Genatlas for SCN2A Gene

Publications for SCN2A Gene

  1. Differential expression of two sodium channel subtypes in human brain. (PMID: 1317301) Lu C.-M. … Brown G.B. (FEBS Lett. 1992) 2 3 4 67
  2. The antiepileptic drug zonisamide inhibits MAO-B and attenuates MPTP toxicity in mice: clinical relevance. (PMID: 19948168) Sonsalla P.K. … Buckley B. (Exp. Neurol. 2010) 25 26
  3. Zonisamide in the treatment of epilepsy. (PMID: 20001433) Schulze-Bonhage A. (Expert Opin Pharmacother 2010) 25 26
  4. Long-term safety and effectiveness of zonisamide in the treatment of epilepsy: a review of the literature. (PMID: 19557119) Zaccara G. … Specchio L.M. (Neuropsychiatr Dis Treat 2009) 25 26
  5. [Role of zonisamid in treating epilepsy, Parkinson disorders and other neurological diseases]. (PMID: 20025128) Janszky J. (Ideggyogy Sz 2009) 25 26

Products for SCN2A Gene

Sources for SCN2A Gene

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