SCN10A (sodium voltage-gated channel alpha subunit 10)

2014-11-01  

Identity

HGNC
LOCATION
3p22.2
LOCUSID
ALIAS
FEPS2,Nav1.8,PN3,SNS

Other Information

Locus ID:

NCBI: 6336
MIM: 604427
HGNC: 10582
Ensembl: ENSG00000185313

Variants:

dbSNP: 6336
ClinVar: 6336
TCGA: ENSG00000185313
COSMIC: SCN10A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185313ENST00000449082Q9Y5Y9
ENSG00000185313ENST00000643108A0A2R8Y7H0
ENSG00000185313ENST00000643924A0A2R8Y6J6
ENSG00000185313ENST00000644826Q9Y5Y9
ENSG00000185313ENST00000655275A0A590UJM0

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
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
PA150481189taxanesChemicalClinicalAnnotationassociatedPD26194361
PA159018367Brugada syndromeDiseaseMultilinkAnnotationnot associated25691538
PA445204Ovarian NeoplasmsDiseaseClinicalAnnotationassociatedPD26194361
PA448803carboplatinChemicalClinicalAnnotationassociatedPD26194361

References

Pubmed IDYearTitleCitations
382638022024Heterologous expression of the human wild-type and variant Na(V) 1.8 (A1073V) in rat sensory neurons.0
382638022024Heterologous expression of the human wild-type and variant Na(V) 1.8 (A1073V) in rat sensory neurons.0
371222072023Patient-specific induced pluripotent stem cell properties implicate Ca(2+)-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants.4
373733352023Molecular and Functional Relevance of Na(V)1.8-Induced Atrial Arrhythmogenic Triggers in a Human SCN10A Knock-Out Stem Cell Model.3
371222072023Patient-specific induced pluripotent stem cell properties implicate Ca(2+)-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants.4
373733352023Molecular and Functional Relevance of Na(V)1.8-Induced Atrial Arrhythmogenic Triggers in a Human SCN10A Knock-Out Stem Cell Model.3
351034942022Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population.0
361408012022Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.0
351034942022Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population.0
361408012022Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.0
343126692021Common variants in SCN10A gene associated with Brugada syndrome.3
346458232021Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression.11
347826002021Detrimental proarrhythmogenic interaction of Ca(2+)/calmodulin-dependent protein kinase II and Na(V)1.8 in heart failure.12
349309442021Contributions of Na(V)1.8 and Na(V)1.9 to excitability in human induced pluripotent stem-cell derived somatosensory neurons.4
343126692021Common variants in SCN10A gene associated with Brugada syndrome.3

Citation

Dessen P

SCN10A (sodium voltage-gated channel alpha subunit 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73043/scn10a-(sodium-voltage-gated-channel-alpha-subunit-10)