Gene table of SCN9A : sodium voltage-gated channel alpha subunit 9

Gene-disease associations table

Disease IDDisease nameSource of annotation with SCN9AOMIM linkNumber of associated genesgenes
243000INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVEClinVar, OMIM, HUMSAVAR link to OMIM 1SCN9A
PS308350EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEOMIM 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
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
133020ERYTHERMALGIA, PRIMARYClinVar, OMIM, HUMSAVAR link to OMIM 1SCN9A
167400PAROXYSMAL EXTREME PAIN DISORDERClinVar, HUMSAVAR link to OMIM 1SCN9A

Download the gene annotation in CSV format

Annotation of the gene SCN9A

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

It is regulated by the following TF:

Associated KEGG pathways
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