Scn2a - sodium channel, voltage-gated, type II, alpha Gene

Also Known as Nav1.2; Scn2a1; 6430408L10; A230052E19Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 110876

About Scn2a

Chromosome 2: 65,451,115-65,597,791 forward strand.GRCm39:CM000995.3

This gene has 10 transcripts (splice variants), 130 orthologues, 26 paralogues and is associated with 18 phenotypes. Biased expression in cerebellum adult (RPKM 21.), cortex adult (RPKM 18.1) and 4 other tissues.

Summary

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 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. In humans, variants of this gene are associated with seizure disorders and autism spectrum disorder. Mice homozygous for a knockout mutation die with severe hypoxia and extensive neuronal cell death, while gain of function mutations result in progressive seizure disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Scn2a Products (3)

mRNA Protein Name
NM_001346680.1 NP_001333609.1 sodium channel protein type 2 subunit alpha isoform 3
NM_001346679.2 NP_001333608.1 sodium channel protein type 2 subunit alpha isoform 2
NM_001099298.3 NP_001092768.1 sodium channel protein type 2 subunit alpha isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables voltage-gated sodium channel activity IDA
IDA: Inferred from direct assay
10827969 MGI
enables voltage-gated sodium channel activity IMP
IMP: Inferred from mutant phenotype
10827969 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within dentate gyrus development IGI
IGI: Inferred from genetic interaction
16464983 MGI
acts upstream of or within determination of adult lifespan IGI
IGI: Inferred from genetic interaction
21156207 MGI
acts upstream of or within intrinsic apoptotic signaling pathway in response to osmotic stress IMP
IMP: Inferred from mutant phenotype
10827969 MGI
involved in memory IMP
IMP: Inferred from mutant phenotype
29867081 MGI
acts upstream of or within nerve development IGI
IGI: Inferred from genetic interaction
16464983 MGI
acts upstream of or within nerve development IMP
IMP: Inferred from mutant phenotype
21156207 MGI
acts upstream of or within nervous system development IMP
IMP: Inferred from mutant phenotype
10827969 MGI
acts upstream of or within neuron apoptotic process IMP
IMP: Inferred from mutant phenotype
10827969 MGI
involved in sodium ion transmembrane transport IMP
IMP: Inferred from mutant phenotype
10827969 MGI
acts upstream of or within sodium ion transport IDA
IDA: Inferred from direct assay
10827969 MGI
Cellular Component GO Annotation Evidence References Source
located in T-tubule IDA
IDA: Inferred from direct assay
15746173 MGI
located in axon IDA
IDA: Inferred from direct assay
17928448 MGI
is active in glutamatergic synapse IDA
IDA: Inferred from direct assay
22528969 MGI
located in intercalated disc IDA
IDA: Inferred from direct assay
15746173 MGI
located in membrane IDA
IDA: Inferred from direct assay
10827969 MGI
located in paranode region of axon IDA
IDA: Inferred from direct assay
16723544 MGI
located in plasma membrane IDA
IDA: Inferred from direct assay
10827969 MGI
is active in presynaptic membrane IDA
IDA: Inferred from direct assay
22528969 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Scn2a Protein Structure

Ion_trans

Ion_trans: pfam00520 (127 - 434)

Na_trans_cytopl

Na_trans_cytopl: pfam11933 (557 - 709)

Ion_trans

Ion_trans: pfam00520 (758 - 971)

Na_trans_assoc

Na_trans_assoc: pfam06512 (997 - 1203)

Ion_trans

Ion_trans: pfam00520 (1207 - 1482)

Na_channel_gate

Na_channel_gate: cd13433 (1474 - 1526)

Ion_trans

Ion_trans: pfam00520 (1531 - 1786)

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  • 1600
  • 2006 a.a.
Protein Preferred Names Protein Names

sodium channel protein type 2 subunit alpha

  • sodium channel, voltage-gated, type II, alpha 1

  • sodium channel, voltage-gated, type II, alpha polypeptide 1

  • voltage-gated sodium channel subunit alpha Nav1.2

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-150514 ARN1468 Inhibitor 98.96% Unkown
HY-W081348 1-(4-Methoxyphenyl)-3-methyl-1H-pyrazol-5(4H)-one Inhibitor 99.54% Unkown
HY-107662 TCS PrP Inhibitor 13 Inducer 99.72% Unkown
HY-RS12529 SCN2A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12530 Scn2a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12531 Scn2a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12535 Scn3a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12550 Scn9a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Scn2a NCBI NCBI:6326