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Aliases for SCN4B Gene

Aliases for SCN4B Gene

  • Sodium Channel, Voltage Gated, Type IV Beta Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type IV, Beta Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type IV, Beta 2
  • Sodium Channel Subunit Beta-4 3
  • Navbeta4 3
  • ATFB17 3
  • LQT10 3

External Ids for SCN4B Gene

Previous GeneCards Identifiers for SCN4B Gene

  • GC00U990339
  • GC11U900020
  • GC11M117541
  • GC11M117509
  • GC11M118004
  • GC11M113937

Summaries for SCN4B Gene

Entrez Gene Summary for SCN4B Gene

  • 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]

GeneCards Summary for SCN4B Gene

SCN4B (Sodium Channel, Voltage Gated, Type IV Beta Subunit) is a Protein Coding gene. Diseases associated with SCN4B include long qt syndrome-10 and timothy syndrome. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include ion channel binding and voltage-gated sodium channel activity. An important paralog of this gene is MPZL1.

UniProtKB/Swiss-Prot for SCN4B Gene

  • Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the suceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom.

Tocris Summary for SCN4B Gene

  • Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear. Structurally, Nav channels are composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits. alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments. The fourth transmembrane loop (S4) acts as the 'voltage sensor' and is activated by changes in membrane potential. S4 is also involved in channel gating.

Gene Wiki entry for SCN4B Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN4B Gene

Genomics for SCN4B Gene

Regulatory Elements for SCN4B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SCN4B Gene

Start:
118,133,377 bp from pter
End:
118,152,915 bp from pter
Size:
19,539 bases
Orientation:
Minus strand

Genomic View for SCN4B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SCN4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN4B Gene

Proteins for SCN4B Gene

  • Protein details for SCN4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWT1-SCN4B_HUMAN
    Recommended name:
    Sodium channel subunit beta-4
    Protein Accession:
    Q8IWT1
    Secondary Accessions:
    • E9PPT5
    • Q6PIG5

    Protein attributes for SCN4B Gene

    Size:
    228 amino acids
    Molecular mass:
    24969 Da
    Quaternary structure:
    • Component of the voltage-sensitive sodium channel complex that consists of an ion-conducting pore-forming alpha subunit and one or more regulatory beta subunits. Heterooligomer with SCN2A; disulfide-linked.

    Three dimensional structures from OCA and Proteopedia for SCN4B Gene

    Alternative splice isoforms for SCN4B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN4B Gene

Proteomics data for SCN4B Gene at MOPED

Post-translational modifications for SCN4B Gene

Other Protein References for SCN4B Gene

No data available for DME Specific Peptides for SCN4B Gene

Domains for SCN4B Gene

Gene Families for SCN4B Gene

HGNC:
  • SC :Sodium channels
  • VSET :Immunoglobulin superfamily / V-set domain containing

Protein Domains for SCN4B Gene

Suggested Antigen Peptide Sequences for SCN4B Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWT1

UniProtKB/Swiss-Prot:

SCN4B_HUMAN :
  • Q8IWT1
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
Family:
  • Belongs to the sodium channel auxiliary subunit SCN4B (TC 8.A.17) family.
genes like me logo Genes that share domains with SCN4B: view

Function for SCN4B Gene

Molecular function for SCN4B Gene

UniProtKB/Swiss-Prot Function: Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the suceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom.

Gene Ontology (GO) - Molecular Function for SCN4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005248 voltage-gated sodium channel activity IDA 12930796
GO:0005515 protein binding --
GO:0017080 sodium channel regulator activity IDA 17592081
GO:0044325 ion channel binding IPI 17592081
GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP 17592081
genes like me logo Genes that share ontologies with SCN4B: view

Animal Model Products

CRISPR Products

miRNA for SCN4B Gene

miRTarBase miRNAs that target SCN4B

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCN4B

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for SCN4B Gene

Localization for SCN4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN4B Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCN4B Gene COMPARTMENTS Subcellular localization image for SCN4B gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SCN4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IMP 24297919
GO:0005886 plasma membrane --
GO:0014704 intercalated disc ISS --
GO:0031226 intrinsic component of plasma membrane IDA 24297919
genes like me logo Genes that share ontologies with SCN4B: view

Pathways for SCN4B Gene

genes like me logo Genes that share pathways with SCN4B: view

Pathways by source for SCN4B Gene

Gene Ontology (GO) - Biological Process for SCN4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006814 sodium ion transport IDA 12930796
GO:0010765 positive regulation of sodium ion transport IDA 17592081
GO:0035725 sodium ion transmembrane transport IDA 20226894
GO:0060048 cardiac muscle contraction IMP 17592081
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP 17592081
genes like me logo Genes that share ontologies with SCN4B: view

Compounds for SCN4B Gene

(5) Tocris Compounds for SCN4B Gene

Compound Action Cas Number
Flecainide acetate Cardiac Na+ channel blocker. Antiarrhythmic [54143-56-5]
QX 314 bromide Na+ channel blocker [24003-58-5]
QX 314 chloride Na+ channel blocker [5369-03-9]
Tetrodotoxin Na+ channel blocker [4368-28-9]
Tetrodotoxin citrate Na+ channel blocker; citrate salt of tetrodotoxin (Cat. No. 1078) [18660-81-6]

(1) HMDB Compounds for SCN4B Gene

Compound Synonyms Cas Number PubMed IDs
Sodium
  • Sodium
7440-23-5

(1) Drugbank Compounds for SCN4B Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Zonisamide
  • Zonisamida [Spanish]
68291-97-4 target inhibitor
genes like me logo Genes that share compounds with SCN4B: view

Transcripts for SCN4B Gene

Unigene Clusters for SCN4B Gene

Sodium channel, voltage-gated, type IV, beta subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCN4B

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCN4B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e
SP1: - - -
SP2: -
SP3: - - -
SP4: - - - -
SP5:
SP6: - - - - - - -
SP7: -

Relevant External Links for SCN4B Gene

GeneLoc Exon Structure for
SCN4B
ECgene alternative splicing isoforms for
SCN4B

Expression for SCN4B Gene

mRNA expression in normal human tissues for SCN4B Gene

mRNA differential expression in normal tissues according to GTEx for SCN4B Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (10.3), Brain - Caudate (basal ganglia) (7.1), and Brain - Nucleus accumbens (basal ganglia) (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SCN4B Gene

SOURCE GeneReport for Unigene cluster for SCN4B Gene Hs.65239

mRNA Expression by UniProt/SwissProt for SCN4B Gene

Q8IWT1-SCN4B_HUMAN
Tissue specificity: Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord, skeletal muscle and heart. Expressed in the atrium.
genes like me logo Genes that share expressions with SCN4B: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SCN4B Gene

Orthologs for SCN4B Gene

This gene was present in the common ancestor of chordates.

Orthologs for SCN4B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN4B 35
  • 99.42 (n)
  • 99.12 (a)
SCN4B 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCN4B 35
  • 88.6 (n)
  • 86.4 (a)
SCN4B 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCN4B 35
  • 86.28 (n)
  • 83.19 (a)
SCN4B 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scn4b 35
  • 83.19 (n)
  • 79.39 (a)
Scn4b 16
Scn4b 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCN4B 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scn4b 35
  • 83.63 (n)
  • 80.26 (a)
chicken
(Gallus gallus)
Aves SCN4B 35
  • 70.41 (n)
  • 60.2 (a)
SCN4B 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCN4B 36
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68679 35
tropical clawed frog
(Silurana tropicalis)
Amphibia scn4b 35
  • 59.52 (n)
  • 55.61 (a)
zebrafish
(Danio rerio)
Actinopterygii scn4ba 35
  • 59.15 (n)
  • 50.26 (a)
scn4ba 36
  • 44 (a)
OneToMany
scn4bb 36
  • 42 (a)
OneToMany
Species with no ortholog for SCN4B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCN4B Gene

ENSEMBL:
Gene Tree for SCN4B (if available)
TreeFam:
Gene Tree for SCN4B (if available)

Paralogs for SCN4B Gene

Paralogs for SCN4B Gene

genes like me logo Genes that share paralogs with SCN4B: view

Variants for SCN4B Gene

Sequence variations from dbSNP and Humsavar for SCN4B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs583490 -- 118,151,893(-) GGACA(C/T)GGAGG intron-variant
rs586053 -- 118,149,853(-) GGAGT(C/T)CCAAA intron-variant
rs598746 -- 118,149,342(-) TCCAC(C/T)TGCCA intron-variant
rs614825 -- 118,148,010(-) TGTTC(C/T)CCTCT intron-variant
rs628299 -- 118,147,307(-) TCCTA(C/T)AGTAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SCN4B Gene

Variant ID Type Subtype PubMed ID
dgv1318n71 CNV Gain 21882294
nsv468878 CNV Gain 19166990
nsv898412 CNV Gain 21882294
nsv519116 CNV Loss 19592680

Relevant External Links for SCN4B Gene

HapMap Linkage Disequilibrium report
SCN4B
Human Gene Mutation Database (HGMD)
SCN4B
Locus Specific Mutation Databases (LSDB)
SCN4B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN4B Gene

Disorders for SCN4B Gene

(1) OMIM Diseases for SCN4B Gene (608256)

UniProtKB/Swiss-Prot

SCN4B_HUMAN
  • Long QT syndrome 10 (LQT10) [MIM:611819]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:17592081}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrial fibrillation, familial, 17 (ATFB17) [MIM:611819]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:23604097}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for SCN4B Gene

Relevant External Links for SCN4B

Genetic Association Database (GAD)
SCN4B
Human Genome Epidemiology (HuGE) Navigator
SCN4B
genes like me logo Genes that share disorders with SCN4B: view

Publications for SCN4B Gene

  1. Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2. (PMID: 12930796) Yu F.H. … Curtis R. (J. Neurosci. 2003) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. (PMID: 17592081) Medeiros-Domingo A. … Ackerman M.J. (Circulation 2007) 3 4
  4. Mutations in sodium channel I^1- and I^2-subunits associated with atrial fibrillation. (PMID: 19808477) Watanabe H. … Roden D.M. (Circ Arrhythm Electrophysiol 2009) 3 48
  5. Mutations in sodium channel I^-subunit SCN3B are associated with early-onset lone atrial fibrillation. (PMID: 21051419) Olesen M.S. … Svendsen J.H. (Cardiovasc. Res. 2011) 3 4

Products for SCN4B Gene

Sources for SCN4B Gene

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