Gene: Scn2a (sodium channel, voltage-gated, type II, alpha) Mus musculus
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Symbol: Scn2a
Name: sodium channel, voltage-gated, type II, alpha
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 6430408L10; A230052E19Rik; Nav1.2; OTTMUSP00000013961; Scn2a1; 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 Nav1.2 variant a; voltage-gated sodium channel Nav1.2 variant b
Orthologs:
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm38265,620,740 - 65,767,448 (+)NCBIGRCm38mm10GRCm38
MGSCv37265,508,502 - 65,605,504 (+)NCBIGRCm37mm9NCBIm37
MGSCv36265,471,335 - 65,568,290 (+)NCBImm8
Celera267,347,826 - 67,445,379 (+)NCBI
Cytogenetic Map2 C1.3NCBImapview
cM Map238.61NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on Scn2a
NCBI Gene
Ensembl Gene
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Vista + UCSC

RGD Object Information
RGD ID: 1621393
Created: 2007-05-01
Species: Mus musculus
Last Modified: 2017-09-05
Status: ACTIVE