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    SCN3B sodium voltage-gated channel beta subunit 3 [ Homo sapiens (human) ]

    Gene ID: 55800, updated on 17-Jun-2024

    Summary

    Official Symbol
    SCN3Bprovided by HGNC
    Official Full Name
    sodium voltage-gated channel beta subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:20665
    See related
    Ensembl:ENSG00000166257 MIM:608214; AllianceGenome:HGNC:20665
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCNB3; ATFB16; BRGDA7; HSA243396
    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 gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 50.6) and adrenal (RPKM 4.9) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SCN3B in Genome Data Viewer
    Location:
    11q24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (123629188..123654624, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (123658164..123683597, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (123499896..123525332, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene GRAM domain containing 1B Neighboring gene uncharacterized LOC124902776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4016 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:123313949-123314928 Neighboring gene Sharpr-MPRA regulatory region 13459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5686 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:123364173-123364689 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:123364690-123365206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4018 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:123407917-123408491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:123430192-123430855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:123430856-123431518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:123431519-123432182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:123446989-123447488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:123446487-123446988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:123448087-123448624 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:123449825-123450047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:123450909-123451518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:123474209-123474708 Neighboring gene splicing factor 3a, subunit 3 pseudogene 2 Neighboring gene uncharacterized LOC124902777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4020 Neighboring gene uncharacterized LOC105369543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:123572538-123573038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:123573039-123573539 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:123599312-123600511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4023 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:123612953-123613550 Neighboring gene zinc finger protein 202 Neighboring gene olfactory receptor family 6 subfamily X member 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Brugada syndrome 7
    MedGen: C2751088 OMIM: 613120 GeneReviews: Brugada Syndrome
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in SA node cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in atrial cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle cell action potential involved in contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane depolarization during action potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane depolarization during action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of heart rate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of sodium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of sodium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of atrial cardiac muscle cell membrane depolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of heart rate by cardiac conduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of sodium ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of sodium ion transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ventricular cardiac muscle cell membrane depolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sodium ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in ventricular cardiac muscle cell action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of voltage-gated sodium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of voltage-gated sodium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of voltage-gated sodium channel complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium channel regulatory subunit beta-3; sodium channel subunit beta-3
    Names
    sodium channel, voltage-gated, type III, beta subunit
    voltage-gated sodium channel beta-3 subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016283.1 RefSeqGene

      Range
      5001..30421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_421

    mRNA and Protein(s)

    1. NM_001040151.2NP_001035241.1  sodium channel regulatory subunit beta-3 precursor

      See identical proteins and their annotated locations for NP_001035241.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AP002765
      Consensus CDS
      CCDS8442.1
      UniProtKB/Swiss-Prot
      A5H1I5, Q17RL3, Q9NY72, Q9ULR2
      Related
      ENSP00000299333.3, ENST00000299333.8
      Conserved Domains (2) summary
      pfam07686
      Location:28140
      V-set; Immunoglobulin V-set domain
      cd00096
      Location:3137
      Ig; Ig strand A' [structural motif]
    2. NM_018400.4NP_060870.1  sodium channel regulatory subunit beta-3 precursor

      See identical proteins and their annotated locations for NP_060870.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AP002765
      Consensus CDS
      CCDS8442.1
      UniProtKB/Swiss-Prot
      A5H1I5, Q17RL3, Q9NY72, Q9ULR2
      Related
      ENSP00000376523.2, ENST00000392770.6
      Conserved Domains (2) summary
      pfam07686
      Location:28140
      V-set; Immunoglobulin V-set domain
      cd00096
      Location:3137
      Ig; Ig strand A' [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      123629188..123654624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542897.3XP_011541199.1  sodium channel subunit beta-3 isoform X1

      See identical proteins and their annotated locations for XP_011541199.1

      UniProtKB/Swiss-Prot
      A5H1I5, Q17RL3, Q9NY72, Q9ULR2
      Conserved Domains (2) summary
      pfam07686
      Location:28140
      V-set; Immunoglobulin V-set domain
      cd00096
      Location:3137
      Ig; Ig strand A' [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      123658164..123683597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369351.1XP_054225326.1  sodium channel subunit beta-3 isoform X1

      UniProtKB/Swiss-Prot
      A5H1I5, Q17RL3, Q9NY72, Q9ULR2