Gene Gene information from NCBI Gene database.
Entrez ID 55800
Gene name Sodium voltage-gated channel beta subunit 3
Gene symbol SCN3B
Synonyms (NCBI Gene)
ATFB16BRGDA7HSA243396SCNB3
Chromosome 11
Chromosome location 11q24.1
Summary Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gen
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs147205617 C>T Likely-benign, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs587777556 G>A,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs587777557 A>G Pathogenic Coding sequence variant, missense variant
rs771342044 A>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs879253730 G>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
340
miRTarBase ID miRNA Experiments Reference
MIRT018656 hsa-miR-335-5p Microarray 18185580
MIRT680912 hsa-miR-1910-3p HITS-CLIP 23706177
MIRT680911 hsa-miR-6511a-5p HITS-CLIP 23706177
MIRT680910 hsa-miR-4257 HITS-CLIP 23706177
MIRT680909 hsa-miR-4537 HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0001518 Component Voltage-gated sodium channel complex IBA
GO:0001518 Component Voltage-gated sodium channel complex IDA 20042427, 21051419, 24567321
GO:0001518 Component Voltage-gated sodium channel complex IEA
GO:0001518 Component Voltage-gated sodium channel complex TAS 21895525
GO:0005272 Function Sodium channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608214 20665 ENSG00000166257
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NY72
Protein name Sodium channel regulatory subunit beta-3
Protein function Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by swi
PDB 4L1D , 7TJ8 , 7TJ9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 28 143 Immunoglobulin V-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the atrium. {ECO:0000269|PubMed:21051419}.
Sequence
MPAFNRLFPLASLVLIYWVSVCFPVCVEVPSETEAVQGNPMKLRCISCMKREEVEATTVV
EWFYRPEGGKDFLIYEYRNGHQEVESPFQGRLQWNGSKDLQDVSITVLNVTLNDSGLYTC
NVSREFEFEAHRPFVKTTRLIPL
RVTEEAGEDFTSVVSEIMMYILLVFLTLWLLIEMIYC
YRKVSKAEEAAQENASDYLAIPSENKENSAVPVEE
Sequence length 215
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Phase 0 - rapid depolarisation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
260
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrial fibrillation, familial, 16 Pathogenic rs587777557, rs587777558 RCV000128814
RCV000128815
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Brugada syndrome Conflicting classifications of pathogenicity; Uncertain significance rs121918282, rs765294617, rs867302682, rs886047904, rs886047906, rs72553907, rs544984224, rs776449566, rs80017720, rs762633602 RCV000171567
RCV000266188
RCV000292638
RCV000289193
RCV000406653
RCV000366696
RCV000320548
RCV000358241
RCV000280076
RCV001089637
Brugada syndrome 7 Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs369522500, rs2137236047, rs758915355, rs115752338, rs527845801, rs879253730, rs2137247053, rs754476318, rs575419664, rs201049075, rs746888620, rs775194985, rs36016311, rs1020414330, rs1955806072
View all (89 more)
RCV001352405
RCV001365529
RCV001404110
RCV001413945
RCV001432490
RCV001445493
RCV001429114
RCV001443488
RCV001462087
RCV001474970
RCV001494209
RCV001480394
RCV001517234
RCV002032825
RCV002025962
RCV001991573
RCV001923548
RCV002028622
RCV001982351
RCV001890935
RCV001971282
RCV001951768
RCV000471206
RCV001942991
RCV001949029
RCV002005812
RCV001885810
RCV002030565
RCV002001999
RCV001243331
RCV001320720
RCV002131833
RCV002109236
RCV002183190
RCV000002574
RCV002298983
RCV003094326
RCV003096864
RCV003096710
RCV003101175
RCV003101996
RCV003497959
RCV003102152
RCV003102978
RCV003085692
RCV002054024
RCV000463466
RCV001221228
RCV001087315
RCV000233030
RCV003088062
RCV003073476
RCV002615698
RCV002624558
RCV003117084
RCV002582703
RCV002631545
RCV002653265
RCV002716022
RCV002700690
RCV002691176
RCV002880794
RCV002943950
RCV002953109
RCV002953520
RCV003019218
RCV003055261
RCV002515579
RCV005101019
RCV005101374
RCV000860457
RCV001521817
RCV000461565
RCV005104236
RCV003499112
RCV003499841
RCV003497547
RCV003604961
RCV003604990
RCV003603695
RCV003820262
RCV001303529
RCV002487351
RCV003860115
RCV002522416
RCV000476588
RCV002489198
RCV001372816
RCV000554297
RCV002066736
RCV000983797
RCV001510932
RCV001855267
RCV000695978
RCV000706863
RCV001441804
RCV000795798
RCV000798076
RCV000800514
RCV001807357
RCV000861375
RCV000917949
RCV005056728
RCV001221947
RCV001229539
RCV003770397
RCV001302904
Cardiac arrhythmia Uncertain significance rs879253730, rs371558196 RCV001842965
RCV001841980
Cardiomyopathy Conflicting classifications of pathogenicity rs147205617 RCV000852659
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 20558140, 30821358
Brain Neoplasms Associate 31610812
Brugada Syndrome Associate 20031595, 39761910
Edema Stimulate 27487831
Epilepsy Associate 26742644
Glioma Associate 35581384
Hypoxia Associate 31610812
Renal Insufficiency Chronic Associate 32354559