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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Atrial fibrillation, familial, 16 Pathogenic rs587777557, rs587777558 RCV000128814
RCV000128815
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Brugada syndrome Conflicting classifications of pathogenicity; Uncertain significance ClinVar
ClinGen, Orphanet
ClinGen, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
BRUGADA SYNDROME 1 ClinGen, Disgenet
ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brugada syndrome 7 Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
CTD, ClinVar, Disgenet, GenCC, HPO
CTD, ClinVar, Disgenet, GenCC, HPO
CTD, ClinVar, Disgenet, GenCC, HPO
CTD, ClinVar, Disgenet, GenCC, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Cardiac arrhythmia Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrial Fibrillation Atrial Fibrillation BEFREE 20558140, 21051419, 23604097, 30821358
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 20558140, 30821358 Associate
★☆☆☆☆
Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) Atrial Fibrillation ORPHANET_DG 20558140, 21051419
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 31610812 Associate
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome Brugada syndrome Pubtator 20031595, 39761910 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome Brugada Syndrome Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder) Brugada Syndrome CLINGEN_DG 11744748, 15007009, 15455233, 19351516, 20031595, 20226894, 21051419, 23257389, 24529773, 26179811, 27677334
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome (disorder) Brugada Syndrome BEFREE 20031595, 22284586, 23257389
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome 1 Brugada Syndrome CLINGEN_DG 11744748, 15007009, 15455233, 19351516, 20031595, 20226894, 21051419, 23257389, 24529773, 26179811, 27677334
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brugada Syndrome 7 Brugada Syndrome UNIPROT_DG 20031595, 20558140, 21051419
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)