Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55800
Gene name Gene Name - the full gene name approved by the HGNC.
Sodium voltage-gated channel beta subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCN3B
Synonyms (NCBI Gene) Gene synonyms aliases
ATFB16, BRGDA7, HSA243396, SCNB3
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608214 20665 ENSG00000166257
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Atrial Fibrillation Atrial fibrillation, familial, 16 rs587777557, rs587777558 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Brugada Syndrome brugada syndrome, brugada syndrome 7, Brugada syndrome 1 N/A N/A ClinVar, GenCC
cardiac arrhythmia Cardiac arrhythmia N/A N/A ClinVar
cardiomyopathy Cardiomyopathy N/A N/A ClinVar
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Associations from Text Mining Disease 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