Gene table of SCN2A : sodium voltage-gated channel alpha subunit 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SCN2A	OMIM link	Number of associated genes	genes
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
PS601764	SEIZURES, BENIGN FAMILIAL INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	PRRT2, SCN2A

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

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
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
cation channel activity	GO:0005261	4.04
sodium ion transmembrane transporter activity	GO:0015081	4.83
substrate-specific channel activity	GO:0022838	3.67
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
passive transmembrane transporter activity	GO:0022803	3.6
transmembrane transporter activity	GO:0022857	2.82
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
gated channel activity	GO:0022836	3.96
voltage-gated sodium channel activity	GO:0005248	6.74
sodium channel activity	GO:0005272	6.13
metal ion transmembrane transporter activity	GO:0046873	3.71
voltage-gated ion channel activity	GO:0005244	4.49
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1905030	6.74