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

Gene ID: 6330, updated on 12-May-2016
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 HPRD:09749; 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]
Orthologs
Location:
11q23.3
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 TMPRSS4 antisense RNA 1 Neighboring gene transmembrane protease, serine 4 Neighboring gene uncharacterized LOC105369517 Neighboring gene sodium voltage-gated channel beta subunit 2 Neighboring gene junction adhesion molecule like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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. ...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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

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, OTTHUMP00000234706, ENST00000529878, 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, OTTHUMP00000234705, ENST00000324727, OTTHUMT00000392326
    Conserved Domains (2) summary
    smart00410
    Location:40151
    IG_like; Immunoglobulin like
    cl11960
    Location:40151
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    117889900..117909461 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)