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

Gene ID: 55800, updated on 3-Jun-2018
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; Vega:OTTHUMG00000166006
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
See SCN3B in Genome Data Viewer
Location:
11q24.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (123629187..123654607, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (123499895..123525315, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene GRAM domain containing 1B Neighboring gene uncharacterized LOC100128242 Neighboring gene splicing factor 3a, subunit 3 pseudogene 2 Neighboring gene uncharacterized LOC105369543 Neighboring gene zinc finger protein 202 Neighboring gene olfactory receptor family 6 subfamily X member 1

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Brugada syndrome 7
MedGen: C2751088 OMIM: 613120 GeneReviews: Brugada Syndrome
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NHGRI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog
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  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion channel binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
sodium channel inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
sodium channel regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
voltage-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
voltage-gated sodium channel activity NAS
Non-traceable Author Statement
more info
PubMed 
voltage-gated sodium channel activity involved in cardiac muscle cell action potential 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 
Process Evidence Code Pubs
SA node cell action potential ISS
Inferred from Sequence or Structural Similarity
more info
 
atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle cell action potential involved in contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane depolarization IDA
Inferred from Direct Assay
more info
PubMed 
membrane depolarization during action potential IDA
Inferred from Direct Assay
more info
PubMed 
membrane depolarization during action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane depolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of heart rate ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of sodium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of sodium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of atrial cardiac muscle cell membrane depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of heart rate by cardiac conduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of sodium ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
ventricular cardiac muscle cell action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
voltage-gated sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated sodium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated sodium channel complex TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
sodium channel subunit beta-3
Names
sodium channel, voltage-gated, type III, beta subunit
voltage-gated sodium channel beta-3 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_016283.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001040151.1NP_001035241.1  sodium channel 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)
    AL136589, AP002765, BX106794, DA327760
    Consensus CDS
    CCDS8442.1
    UniProtKB/Swiss-Prot
    Q9NY72
    UniProtKB/TrEMBL
    A0A024R3H7
    Related
    ENSP00000299333.3, ENST00000299333.7
    Conserved Domains (1) summary
    pfam07686
    Location:28143
    V-set; Immunoglobulin V-set domain
  2. NM_018400.3NP_060870.1  sodium channel 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)
    AL136589, AP002765, BP202832, BX106794, DA327760, DA806480
    Consensus CDS
    CCDS8442.1
    UniProtKB/Swiss-Prot
    Q9NY72
    UniProtKB/TrEMBL
    A0A024R3H7
    Related
    ENSP00000376523.2, OTTHUMP00000231688, ENST00000392770.6, OTTHUMT00000387412
    Conserved Domains (1) summary
    pfam07686
    Location:28143
    V-set; Immunoglobulin V-set domain

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
    123629187..123654607 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542897.2XP_011541199.1  sodium channel subunit beta-3 isoform X1

    See identical proteins and their annotated locations for XP_011541199.1

    UniProtKB/Swiss-Prot
    Q9NY72
    UniProtKB/TrEMBL
    A0A024R3H7
    Conserved Domains (1) summary
    pfam07686
    Location:28143
    V-set; Immunoglobulin V-set domain
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