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Aliases for SCN2A Gene

Aliases for SCN2A Gene

  • Sodium Channel, Voltage Gated, Type II Alpha Subunit 2 3
  • SCN2A1 3 4 6
  • 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
  • SCN2A2 3 4
  • EIEE11 3 6
  • BFIC3 3 6
  • BFIS3 3 6
  • BFNIS 3 6
  • NAC2 3 4
  • Sodium Channel Protein, Brain Type 2 Alpha Subunit 3
  • Sodium Channel Protein Type 2 Subunit Alpha 3
  • Voltage-Gated Sodium Channel Subtype II 3
  • Na(V)1.2 3
  • HBSCII 3
  • Nav1.2 3
  • HBSCI 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 Channel, Voltage Gated, Type II Alpha Subunit) 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 L1CAM interactions and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated sodium channel activity. An important paralog of this gene is CACNA1D.

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. Structurally, Nav channels are composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits. alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments. The fourth transmembrane loop (S4) acts as the 'voltage sensor' and is activated by changes in membrane potential. S4 is also involved in channel gating.

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

Genomic Location for SCN2A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn212, Asn285, Asn291, Asn297, Asn303, Asn308, Asn340, Asn1368, Asn1382, and Asn1393
  • Modification sites at PhosphoSitePlus

Other Protein References for SCN2A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for SCN2A Gene

Domains for SCN2A Gene

Gene Families for SCN2A Gene

HGNC:
  • SC :Sodium channels
  • SCN :Voltage-gated ion channels / Sodium channels
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q99250

UniProtKB/Swiss-Prot:

SCN2A_HUMAN :
  • Q99250
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.

Gene Ontology (GO) - Molecular Function for SCN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005248 voltage-gated sodium channel activity ISS --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SCN2A: view

miRNA for SCN2A Gene

miRTarBase miRNAs that target SCN2A

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCN2A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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 4
cytosol 2
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:0005886 plasma membrane IBA --
GO:0005887 integral component of plasma membrane TAS 1325650
GO:0014704 intercalated disc IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with SCN2A: view

Pathways for SCN2A Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SCN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006814 sodium ion transport TAS 1325650
GO:0007399 nervous system development --
GO:0008627 intrinsic apoptotic signaling pathway in response to osmotic stress IEA --
GO:0019228 neuronal action potential IBA --
genes like me logo Genes that share ontologies with SCN2A: view

Compounds for SCN2A Gene

(5) Tocris Compounds for SCN2A Gene

Compound Action Cas Number
Flecainide acetate Cardiac Na+ channel blocker. Antiarrhythmic [54143-56-5]
QX 314 bromide Na+ channel blocker [24003-58-5]
QX 314 chloride Na+ channel blocker [5369-03-9]
Tetrodotoxin Na+ channel blocker [4368-28-9]
Tetrodotoxin citrate Na+ channel blocker; citrate salt of tetrodotoxin (Cat. No. 1078) [18660-81-6]

(1) HMDB Compounds for SCN2A Gene

Compound Synonyms Cas Number PubMed IDs
Sodium
  • Sodium
7440-23-5

(3) Drugbank Compounds for SCN2A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Lamotrigine
  • GW 273293
84057-84-1 target inhibitor
Propofol
  • 2,6-Diisopropylphenol
2078-54-8 target inhibitor
Zonisamide
  • Zonisamida [Spanish]
68291-97-4 target inhibitor

(8) IUPHAR Ligand for SCN2A Gene

Ligand Type Action Affinity Pubmed IDs
tetrodotoxin Pore Blocker Antagonist 7.6
AFT-II Gating inhibitor Antagonist 7.5
ATX-II Gating inhibitor Antagonist 7.3
Bc-III Gating inhibitor Antagonist 6.1
phenytoin Pore Blocker None 4.9
veratridine Activator None
saxitoxin Channel blocker None
batrachotoxin Activator None

(1) Novoseek inferred chemical compound relationships for SCN2A Gene

Compound -log(P) Hits PubMed IDs
sodium 54.6 1

(8) PharmGKB related drug/compound annotations for SCN2A Gene

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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCN2A

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SCN2A

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for SCN2A Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (11.2), Brain - Cerebellum (10.3), Brain - Frontal Cortex (BA9) (5.3), and Brain - Anterior cingulate cortex (BA24) (4.5).

Integrated Proteomics: protein expression 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 expressions with SCN2A: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 35
  • 99.77 (n)
  • 99.9 (a)
SCN2A 36
  • 100 (a)
OneToOne
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 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCN2A 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCN2A 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scn2a1 35
  • 88.74 (n)
  • 97.85 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia scn2a2-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia scn3a 35
  • 75.66 (n)
  • 83.08 (a)
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

Selected 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 MAF
rs168478 -- 165,276,027(-) ggctg(A/G)gtgca intron-variant
rs168479 -- 165,288,137(-) AAATC(A/G)ATACA intron-variant
rs171314 -- 165,274,380(-) TCCTT(C/T)Ctttt intron-variant
rs173292 -- 165,281,589(+) acaca(A/G)gccat intron-variant
rs353109 -- 165,278,617(+) ctatc(A/G)TGGGG intron-variant

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

Relevant External Links for SCN2A Gene

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

PCR Panel Products

  • Copy Number PCR Panels: for SCN2A

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

Disorders for SCN2A Gene

(2) OMIM Diseases for SCN2A Gene (182390)

UniProtKB/Swiss-Prot

SCN2A_HUMAN
  • 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.
  • 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: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.

(5) University of Copenhagen DISEASES for SCN2A Gene

Relevant External Links for SCN2A

Genetic Association Database (GAD)
SCN2A
Human Genome Epidemiology (HuGE) Navigator
SCN2A
genes like me logo Genes that share disorders with SCN2A: view

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
  2. Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. (PMID: 1325650) Ahmed C.M. … Montal M. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4
  3. Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23. (PMID: 1846440) Han J. … Rado T.A. (Proc. Natl. Acad. Sci. U.S.A. 1991) 3 4
  4. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. (PMID: 15028761) Kamiya K. … Yamakawa K. (J. Neurosci. 2004) 3 23
  5. Calmodulin mediates Ca2+ sensitivity of sodium channels. (PMID: 15316014) Kim J. … Pitt G.S. (J. Biol. Chem. 2004) 3 23

Products for SCN2A Gene

Sources for SCN2A Gene

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