SCN3A (sodium voltage-gated channel alpha subunit 3)

2014-11-01  

Identity

HGNC
LOCATION
2q24.3
LOCUSID
ALIAS
DEE62,EIEE62,FFEVF4,NAC3,Nav1.3
FUSION GENES

Other Information

Locus ID:

NCBI: 6328
MIM: 182391
HGNC: 10590
Ensembl: ENSG00000153253

Variants:

dbSNP: 6328
ClinVar: 6328
TCGA: ENSG00000153253
COSMIC: SCN3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153253ENST00000283254Q9NY46
ENSG00000153253ENST00000360093Q9NY46
ENSG00000153253ENST00000409101Q9NY46
ENSG00000153253ENST00000440431E7EUE6
ENSG00000153253ENST00000453007C9JBM7
ENSG00000153253ENST00000638473A0A1W2PQ58
ENSG00000153253ENST00000639244A0A1W2PRD1
ENSG00000153253ENST00000640652A0A1W2PSB2
ENSG00000153253ENST00000658209A0A590UJW3
ENSG00000153253ENST00000668657A0A590UJH3

Expression (GTEx)

0
5
10
15

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

References

Pubmed IDYearTitleCitations
126106512003Sodium channels SCN1A, SCN2A and SCN3A in familial autism.91
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
187846172008Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.24
187846172008Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.24
241576912014Novel SCN3A variants associated with focal epilepsy in children.23
196997812009Abnormal expression of voltage-gated sodium channels Nav1.7, Nav1.3 and Nav1.8 in trigeminal neuralgia.18
238595702013SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.13
239654092013Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome.12
203464232010Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.11
243376562014Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.11

Citation

Dessen P

SCN3A (sodium voltage-gated channel alpha subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73048/scn3a