SCN8A (sodium voltage-gated channel alpha subunit 8)

2009-05-01  

Identity

HGNC
LOCATION
12q13.13
LOCUSID
ALIAS
BFIS5,CERIII,CIAT,DEE13,EIEE13,MED,MYOCL2,NaCh6,Nav1.6,PN4
FUSION GENES

Other Information

Locus ID:

NCBI: 6334
MIM: 600702
HGNC: 10596
Ensembl: ENSG00000196876

Variants:

dbSNP: 6334
ClinVar: 6334
TCGA: ENSG00000196876
COSMIC: SCN8A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196876ENST00000354534Q9UQD0
ENSG00000196876ENST00000548086A0A590UJP2
ENSG00000196876ENST00000551216F8W0Q0
ENSG00000196876ENST00000636945A0A1B0GVM8
ENSG00000196876ENST00000637709A0A1B0GVD4
ENSG00000196876ENST00000638820A0A1W2PQI5
ENSG00000196876ENST00000667214A0A590UK68
ENSG00000196876ENST00000668547A0A590UK43

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
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

References

Pubmed IDYearTitleCitations
223651522012De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.131
178816582007The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.74
255683002015The phenotypic spectrum of SCN8A encephalopathy.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
258180412015Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.53
236408852013The fibroblast growth factor 14·voltage-gated sodium channel complex is a new target of glycogen synthase kinase 3 (GSK3).42
191365572009Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A.41
248745462014A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.41
257250442015De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.38
216302632012Overexpression of NaV 1.6 channels is associated with the invasion capacity of human cervical cancer.33

Citation

Dessen P

SCN8A (sodium voltage-gated channel alpha subunit 8)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50930/scn8a