SCN2A (sodium voltage-gated channel alpha subunit 2)

2016-10-01  

Identity

HGNC
LOCATION
2q24.3
LOCUSID
ALIAS
BFIC3,BFIS3,BFNIS,DEE11,EA9,EIEE11,HBA,HBSCI,HBSCII,NAC2,Na(v)1.2,Nav1.2,SCN2A1,SCN2A2
FUSION GENES

Other Information

Locus ID:

NCBI: 6326
MIM: 182390
HGNC: 10588
Ensembl: ENSG00000136531

Variants:

dbSNP: 6326
ClinVar: 6326
TCGA: ENSG00000136531
COSMIC: SCN2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136531ENST00000283256Q99250
ENSG00000136531ENST00000375427Q99250
ENSG00000136531ENST00000375437Q99250
ENSG00000136531ENST00000424833F6U291
ENSG00000136531ENST00000486878A0A0D9SGG2
ENSG00000136531ENST00000631182Q99250
ENSG00000136531ENST00000636071Q99250
ENSG00000136531ENST00000636135A0A1B0GTS6
ENSG00000136531ENST00000636384A0A1B0GW40
ENSG00000136531ENST00000636662A0A1B0GTX0
ENSG00000136531ENST00000636769A0A1B0GW67
ENSG00000136531ENST00000636985A0A1B0GWA6
ENSG00000136531ENST00000637266Q99250
ENSG00000136531ENST00000637367A0A1B0GTX0

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Taste transductionKEGGko04742
Taste transductionKEGGhsa04742
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA143485705antiepilepticsChemicalClinicalAnnotationassociatedPD18784617, 23859570, 25155934
PA444065EpilepsyDiseaseClinicalAnnotationassociatedPD18784617, 23859570, 25155934
PA448785carbamazepineChemicalClinicalAnnotationassociatedPD18784617, 23859570, 25155934
PA450164lamotrigineChemicalClinicalAnnotationassociatedPD18784617, 25155934
PA450732oxcarbazepineChemicalClinicalAnnotationassociatedPD18784617, 25155934
PA450911phenobarbitalChemicalClinicalAnnotationassociatedPD23859570, 25155934
PA450947phenytoinChemicalClinicalAnnotationassociatedPD18784617, 23859570, 25155934
PA451728topiramateChemicalClinicalAnnotationassociatedPD18784617, 25155934
PA451846valproic acidChemicalClinicalAnnotationassociatedPD23859570, 25155934

References

Pubmed IDYearTitleCitations
224953062012De novo mutations revealed by whole-exome sequencing are strongly associated with autism.756
126106512003Sodium channels SCN1A, SCN2A and SCN3A in familial autism.91
153160142004Calmodulin mediates Ca2+ sensitivity of sodium channels.71
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
150287612004A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.61
194651312009FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels.57
197866962009De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.53
239351762013Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.53
258180412015Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.53
194016822010High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.52

Citation

Dessen P

SCN2A (sodium voltage-gated channel alpha subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56568/scn2a-(sodium-voltage-gated-channel-alpha-subunit-2)