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Scn2a1
Gene Detail
 Symbol
Name
ID
Scn2a1
sodium channel, voltage-gated, type II, alpha 1
MGI:98248
STS D2Kyo1
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
Chr2:65620857-65767447 bp, + strand
From VEGA annotation of GRCm38

  146591 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 zebrafish

Gene Tree: Scn2a1

Human
homologs
Human Homolog SCN2A, sodium channel, voltage-gated, type II, alpha subunit
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
Disease Associations  (2) Diseases Associated with Human SCN2A
Alleles
and
phenotypes
All alleles(3) : Gene trapped(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Gene Ontology
(GO)
classifications
All GO classifications: (36 annotations)
Process intrinsic apoptotic signaling pathway in response to osmotic stress, ion transport, ...
Component axon, axon initial segment, ...
Function leucine zipper domain binding, potassium channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (35)    Tissues (8)   
Theiler Stages: 21, 23, 28
Assay TypeResults
Northern blot 14
RT-PCR 21
cDNA source data(6)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(16) cDNA(9) Primer pair(7)
Microarray probesets(18)
Other database
links
VEGA Gene ModelOTTMUSG00000012963 (Evidence)
Ensembl Gene ModelENSMUSG00000075318 (Evidence)
Entrez Gene110876 (Evidence)
DFCITC1602321, TC1724906
DoTSDT.87041959
NIA Mouse Gene IndexU001829
Consensus CDS ProjectCCDS38130.1
International Mouse Knockout Project StatusScn2a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012963 VEGA Gene Model | MGI Sequence Detail 146591 C57BL/6J ±  kb
transcript OTTMUST00000031206 VEGA | MGI Sequence Detail 8849 Not Applicable 
polypeptide OTTMUSP00000013961 VEGA | MGI Sequence Detail 2006 Not Applicable 

For the selected sequences
All sequences(49) 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 IPR024583 Domain of unknown function DUF3451
InterPro IPR005821 Ion transport domain
InterPro IPR000048 IQ motif, EF-hand binding site
InterPro IPR010526 Sodium ion transport-associated
InterPro IPR003091 Voltage-dependent potassium channel
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
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:187349 Hu XL, et al., Conditional deletion of NRSF in forebrain neurons accelerates epileptogenesis in the kindling model. Cereb Cortex. 2011 Sep;21(9):2158-65
All references(49)
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
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory