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

Gene ID: 6330, updated on 10-May-2020

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
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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (118133377..118152823, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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_001142348.2NP_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, ENST00000529878.1
  2. NM_001142349.2NP_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
    Related
    ENST00000415030.6
    Conserved Domains (2) summary
    smart00410
    Location:241
    IG_like; Immunoglobulin like
    cl11960
    Location:241
    Ig; Immunoglobulin domain
  3. NM_174934.4NP_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, ENST00000324727.8
    Conserved Domains (1) summary
    cl11960
    Location:41151
    Ig; Immunoglobulin domain

RNA

  1. NR_024527.2 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    118133377..118152823 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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