Gene table of SCN1A : sodium voltage-gated channel alpha subunit 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with SCN1AOMIM linkNumber of associated genesgenes
609634MIGRAINE, FAMILIAL HEMIPLEGIC, 3ClinVar, OMIM, HUMSAVAR link to OMIM 1SCN1A
606369MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHYClinVar link to OMIM 1SCN1A
PS121210SEIZURES, FAMILIAL FEBRILEClinVar, OMIM, HUMSAVAR link to OMIM 5SCN1A, CPA6, SCN9A, ADGRV1, GABRG2
PS604233EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUSClinVar, OMIM, HUMSAVAR link to OMIM 6GABRD, STX1B, SCN9A, SCN1A, GABRG2, SCN1B
PS308350EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEClinVar, OMIM, HUMSAVAR link to OMIM 37KCNT1, 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 SCN1A

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 138, together with the genes:

Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Dopaminergic synapsehsa047285.69
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Axon guidanceR-HSA-4224753.93
Interaction between L1 and AnkyrinsR-HSA-4450958.03
L1CAM interactionsR-HSA-3737606.19
Developmental BiologyR-HSA-12667383.48
Associated GO terms for Molecular function
GO termGO IDGO IC
cation channel activityGO:00052614.04
bindingGO:00054880.18
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potentialGO:19050306.74
substrate-specific channel activityGO:00228383.67
cation bindingGO:00431691.4
sodium ion transmembrane transporter activityGO:00150814.83
transmembrane transporter activityGO:00228572.82
ion bindingGO:00431671.36
passive transmembrane transporter activityGO:00228033.6
metal ion transmembrane transporter activityGO:00468733.71
metal ion bindingGO:00468721.41
sodium channel activityGO:00052726.13
transporter activityGO:00052152.57
ion channel activityGO:00052163.71
cation transmembrane transporter activityGO:00083243.32
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
substrate-specific transporter activityGO:00228922.72
sodium ion bindingGO:00314027.1
alkali metal ion bindingGO:00314206.69
ion transmembrane transporter activityGO:00150753.04
voltage-gated channel activityGO:00228324.49
monovalent inorganic cation transmembrane transporter activityGO:00150773.87
channel activityGO:00152673.6
gated channel activityGO:00228363.96
voltage-gated sodium channel activityGO:00052486.74
voltage-gated ion channel activityGO:00052444.49