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 Type	Results
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 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 Knockout Project Status	Scn2a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012963	VEGA Gene Model | MGI Sequence Detail	146591	C57BL/6J
transcript	OTTMUST00000031206	VEGA | MGI Sequence Detail	8849	Not Applicable
polypeptide	OTTMUSP00000013961	VEGA | MGI Sequence Detail	2006	Not Applicable

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

Resource	ID	Description
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