Gene table of SCN8A : sodium voltage-gated channel alpha subunit 8

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SCN8A	OMIM link	Number of associated genes	genes
614306	COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA	OMIM	link to OMIM	1	SCN8A
PS308350	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	37	KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA

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Annotation of the gene SCN8A

Associated genes in ENSEMBL

ENSG00000196876

Associated proteins - SwissProt Accession ID

Q9UQD0

Associated PDB IDs

Cytogenetic Band

12q13.13

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Axon guidance	R-HSA-422475	3.93
Interaction between L1 and Ankyrins	R-HSA-445095	8.03
L1CAM interactions	R-HSA-373760	6.19
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation channel activity	GO:0005261	4.04
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1905030	6.74
substrate-specific channel activity	GO:0022838	3.67
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
sodium ion transmembrane transporter activity	GO:0015081	4.83
transmembrane transporter activity	GO:0022857	2.82
nucleotide binding	GO:0000166	1.96
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
ATP binding	GO:0005524	2.43
sodium channel activity	GO:0005272	6.13
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
small molecule binding	GO:0036094	1.89
passive transmembrane transporter activity	GO:0022803	3.6
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
channel activity	GO:0015267	3.6
adenyl ribonucleotide binding	GO:0032559	2.41
gated channel activity	GO:0022836	3.96
voltage-gated sodium channel activity	GO:0005248	6.74
purine ribonucleotide binding	GO:0032555	2.2
voltage-gated ion channel activity	GO:0005244	4.49
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19