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    SCN4B sodium voltage-gated channel beta subunit 4 [ Homo sapiens (human) ]

    Gene ID: 6330, updated on 9-Sep-2018

    Summary

    Official Symbol
    SCN4Bprovided by HGNC
    Official Full Name
    sodium voltage-gated channel beta subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:10592
    See related
    Ensembl:ENSG00000177098 MIM:608256; Vega:OTTHUMG00000166994
    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
    LQT10; ATFB17; Navbeta4
    Summary
    The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
    Expression
    Broad expression in fat (RPKM 19.5), brain (RPKM 8.6) and 18 other tissues See more
    Orthologs

    Genomic context

    See SCN4B in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (118133377..118152915, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118004092..118023630, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 35 Neighboring gene RNA, 7SL, cytoplasmic 828, pseudogene Neighboring gene uncharacterized LOC105369517 Neighboring gene transmembrane serine protease 4 Neighboring gene sodium voltage-gated channel beta subunit 2 Neighboring gene junction adhesion molecule like Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 18

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
      Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
      Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sodium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated sodium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intrinsic component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated sodium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated sodium channel complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium channel subunit beta-4
    Names
    sodium channel, voltage-gated, type IV, beta subunit

    NCBI Reference Sequences (RefSeq)

    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_011710.1 RefSeqGene

      Range
      5001..24539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_330

    mRNA and Protein(s)

    1. NM_001142348.1NP_001135820.1  sodium channel subunit beta-4 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple in-frame exons in the 5' coding region, compared to variant 1. This variant encodes isoform 2 which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AY149967, BC035017, DA109496, DB101246, DB237478
      Consensus CDS
      CCDS44744.1
      UniProtKB/Swiss-Prot
      Q8IWT1
      Related
      ENSP00000436343.1, OTTHUMP00000234706, ENST00000529878.1, OTTHUMT00000392329
    2. NM_001142349.1NP_001135821.1  sodium channel subunit beta-4 isoform 3

      See identical proteins and their annotated locations for NP_001135821.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an in-frame downstream ATG and an isoform (3) which has a shorter N-terminus, compared to isoform 1. Translation initiation from the start codon 197 nucleotides upstream would subject the transcript to nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY149967, BC035017, DA111034, DA211092, DB101246
      UniProtKB/Swiss-Prot
      Q8IWT1
      Conserved Domains (2) summary
      smart00410
      Location:241
      IG_like; Immunoglobulin like
      cl11960
      Location:241
      Ig; Immunoglobulin domain
    3. NM_174934.3NP_777594.1  sodium channel subunit beta-4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_777594.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AY149967, BC035017, DB101246, DB237478
      Consensus CDS
      CCDS8389.1
      UniProtKB/Swiss-Prot
      Q8IWT1
      UniProtKB/TrEMBL
      B0YJ93
      Related
      ENSP00000322460.4, OTTHUMP00000234705, ENST00000324727.8, OTTHUMT00000392326
      Conserved Domains (1) summary
      cl11960
      Location:41151
      Ig; Immunoglobulin domain

    RNA

    1. NR_024527.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame coding region that contains the translation start codon, compared to variant 1.
      Source sequence(s)
      AY149967, BC035017, DA111034, DA247019, DB101246
      Related
      ENST00000415030.6

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      118133377..118152915 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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