SCN1A (sodium voltage-gated channel alpha subunit 1)

2008-07-01  

Identity

HGNC
SCN1A
LOCATION
2q24.3
LOCUSID
6323
ALIAS
DEE6,DEE6A,DEE6B,DRVT,EIEE6,FEB3,FEB3A,FHM3,GEFSP2,HBSCI,NAC1,Nav1.1,SCN1,SMEI

Other Information

Locus ID:

NCBI: 6323
MIM: 182389
HGNC: 10585
Ensembl: ENSG00000144285

Variants:

dbSNP: 6323
ClinVar: 6323
TCGA: ENSG00000144285
COSMIC: SCN1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144285ENST00000303395P35498
ENSG00000144285ENST00000375405P35498
ENSG00000144285ENST00000409050P35498
ENSG00000144285ENST00000635750P35498
ENSG00000144285ENST00000635776A0A1B0GVX7
ENSG00000144285ENST00000635893A0A1B0GU68
ENSG00000144285ENST00000636194A0A1B0GUX7
ENSG00000144285ENST00000636759A0A1B0GWE6
ENSG00000144285ENST00000637038A0A1B0GUN7
ENSG00000144285ENST00000637988P35498
ENSG00000144285ENST00000640036A0A1W2PPJ3
ENSG00000144285ENST00000641575A0A286YF26
ENSG00000144285ENST00000641603A0A286YEQ8
ENSG00000144285ENST00000641996A0A286YFA8

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10888clobazamChemicalClinicalAnnotationassociatedPD21747585, 23859570, 25155934, 28753467
PA143485705antiepilepticsChemicalClinicalAnnotationassociatedPD21561445, 22292851, 22591328, 23859570, 25155934
PA444065EpilepsyDiseaseClinicalAnnotationassociatedPKPD17001291, 19289736, 21561445, 21747585, 22188362, 22292851, 22591328, 23859570, 25155934, 26314341, 26555147, 28753467
PA448785carbamazepineChemicalClinicalAnnotation, MultilinkAnnotationassociatedPKPD19289736, 21561445, 21747585, 22188362, 22292851, 22591328, 23859570, 25155934, 26314341, 26555147, 28753467
PA449533ethosuximideChemicalClinicalAnnotationassociatedPD21747585, 23859570, 25155934, 28753467
PA450164lamotrigineChemicalClinicalAnnotation, VariantAnnotationassociatedPD21747585, 23859570, 25155934, 28753467
PA450206levetiracetamChemicalClinicalAnnotationassociatedPD21747585, 23859570, 25155934, 28753467
PA450732oxcarbazepineChemicalClinicalAnnotationassociatedPKPD21747585, 22591328, 23859570, 25155934, 26555147, 28753467
PA450947phenytoinChemicalClinicalAnnotationassociatedPD17001291
PA451846valproic acidChemicalClinicalAnnotationassociatedPD21747585, 23859570, 25155934, 28753467

References

Pubmed IDYearTitleCitations
379551802024Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.1
379560382024Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.1
380612352024Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers.0
384109362024Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.4
384480152024[Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene].0
385655072024[Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].0
388918312024SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.0
379551802024Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.1
379560382024Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.1
380612352024Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers.0
384109362024Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.4
384480152024[Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene].0
385655072024[Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].0
388918312024SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.0
362871002023SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.6

Citation

Dessen P

SCN1A (sodium voltage-gated channel alpha subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50222/scn1a-(sodium-voltage-gated-channel-alpha-subunit-1)