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Scn2a1
Gene Detail
Symbol

Name
ID
Scn2a1
sodium channel, voltage-gated, type II, alpha 1
MGI:98248
STS
Synonyms
A230052E19Rik, Nav1.2
Feature Type
protein coding gene
Genetic Map
Chromosome 2
38.61 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr2:65620771-65767447 bp, + strand
From VEGA annotation of GRCm38

  146677 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:75001  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SCN2A
Gene Tree: Scn2a1

Human
homologs
SCN2A, sodium channel, voltage gated, type II alpha subunit
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 6326
neXtProt AC: NX_Q99250

Human Synonyms: BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2

Human Chr (Location): 2q24.3; chr2:165130149-165392310 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human SCN2A

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Targeted(2) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality.
 
Human Diseases Modeled in Mice Using Scn2a1 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Scn2a1 interacts with 440 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (5 records)
Data Summary: Results (35)    Tissues (10)    Tissue x Stage Matrix (view)
Assay TypeResults
Northern blot 14
RT-PCR 21
cDNA source data(7)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100486750    NEW 
Molecular
reagents
All nucleic(17) cDNA(10) Primer pair(7)
Microarray probesets(18)
Other database
links
VEGA Gene Model OTTMUSG00000012963 (Evidence)
Ensembl Gene Model ENSMUSG00000075318 (Evidence)
Entrez Gene 110876 (Evidence)
DFCI TC1602321, TC1724906
DoTS DT.87041959
NIA Mouse Gene Index U001829
Consensus CDS Project CCDS38130.1
International Mouse Phenotyping Consortium Status Scn2a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012963 VEGA Gene Model | MGI Sequence Detail 146677 C57BL/6J ±  kb
transcript OTTMUST00000031206 VEGA | MGI Sequence Detail 8935 Not Applicable 
polypeptide OTTMUSP00000013961 VEGA | MGI Sequence Detail 2006 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(10) UniProt(8)
Polymorphisms
All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs within 2kb(1001 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1005)
Protein-related
information
ResourceIDDescription
InterPro IPR005821 Ion transport domain
InterPro IPR000048 IQ motif, EF-hand binding site
InterPro IPR003091 Potassium channel
InterPro IPR010526 Sodium ion transport-associated
InterPro IPR027359 Voltage-dependent channel, four helix bundle domain
InterPro IPR024583 Voltage-gated Na+ ion channel, cytoplasmic domain
InterPro IPR028808 Voltage gated sodium channel, alpha-3 subunit
InterPro IPR001696 Voltage gated sodium channel, alpha subunit
Protein Ontology PR:000002098 sodium channel protein type 2 subunit alpha
References
(Earliest) J:10031 Litt M, et al., Localization of a human brain sodium channel gene (SCN2A) to chromosome 2. Genomics. 1989 Aug;5(2):204-8
(Latest) J:210871 Tsunozaki M, et al., A 'toothache tree' alkylamide inhibits Adelta mechanonociceptors to alleviate mechanical pain. J Physiol. 2013 Jul 1;591(Pt 13):3325-40
All references(46)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-14321, MGI:2444703

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory