Gene Information
|
Gene Name
|
SCN8A |
|
Gene ID
|
6334
|
|
Gene Full Name
|
sodium voltage-gated channel alpha subunit 8 |
|
Gene Alias
|
BFIS5|CERIII|CIAT|DEE13|EIEE13|MED|MYOCL2|NaCh6|Nav1.6|PN4 |
|
Transcripts
|
ENSG00000196876
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Plasma membrane;Vesicles, Cell Junctions;
|
|
Membrane Info
|
Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels |
|
Uniport_ID
|
Q9UQD0
|
|
HGNC ID
|
HGNC:10596
|
|
OMIM ID
|
600702 |
|
Summary
|
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] |
Target gene [SCN8A] related to VISs
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6015354 |
chr12 |
1 |
13 |
0 |
14 |
View |
| 6025329 |
chr12 |
1 |
2 |
0 |
3 |
View |
Target gene [SCN8A] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - SCN8A peak across samples
|
Peak Plot
|
|
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