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    SCN2B sodium voltage-gated channel beta subunit 2 [ Homo sapiens (human) ]

    Gene ID: 6327, updated on 5-Mar-2024

    Summary

    Official Symbol
    SCN2Bprovided by HGNC
    Official Full Name
    sodium voltage-gated channel beta subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:10589
    See related
    Ensembl:ENSG00000149575 MIM:601327; AllianceGenome:HGNC:10589
    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
    ATFB14
    Summary
    The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]
    Expression
    Biased expression in brain (RPKM 17.5), heart (RPKM 5.3) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SCN2B in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118162806..118176639, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118179198..118193026, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118033521..118047354, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene transmembrane serine protease 4 Neighboring gene uncharacterized LOC105369517 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118000597-118001098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118001099-118001598 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:118014519-118015718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3943 Neighboring gene sodium voltage-gated channel beta subunit 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118024156-118024656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5584 Neighboring gene Sharpr-MPRA regulatory region 10108 Neighboring gene junction adhesion molecule like Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 18 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:118111758-118112957 Neighboring gene myelin protein zero like 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118122400-118122961 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118122962-118123522

    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
    Atrial fibrillation, familial, 14
    MedGen: C3809312 OMIM: 615378 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cardiac muscle cell action potential involved in contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane depolarization during cardiac muscle cell action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in membrane depolarization during cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane repolarization during ventricular cardiac muscle cell action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to heat IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pyrethroid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     
    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 subunit beta-2
    Names
    neuronal voltage-gated sodium channel beta 2 subunit
    sodium channel, voltage gated, type II beta subunit
    sodium channel, voltage-gated, type II, beta polypeptide

    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_042217.1 RefSeqGene

      Range
      4984..18817
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004588.5NP_004579.1  sodium channel subunit beta-2 precursor

      See identical proteins and their annotated locations for NP_004579.1

      Status: REVIEWED

      Source sequence(s)
      AP002800, BC036793, DA290917
      Consensus CDS
      CCDS8390.1
      UniProtKB/Swiss-Prot
      O60939, O75302, Q9UNN3
      UniProtKB/TrEMBL
      Q5U0K8
      Related
      ENSP00000278947.5, ENST00000278947.6
      Conserved Domains (1) summary
      cd05715
      Location:30146
      IgV_P0-like; Immunoglobulin (Ig)-like domain of protein zero (P0) and similar proteins

    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
      118162806..118176639 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      118179198..118193026 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)