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Aliases for SCN4B Gene

Aliases for SCN4B Gene

  • Sodium Voltage-Gated Channel Beta Subunit 4 2 3
  • Sodium Channel, Voltage Gated, Type IV Beta Subunit 2 3 5
  • Sodium Channel, Voltage-Gated, Type IV, Beta Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type IV, Beta 2
  • Navbeta4 3
  • ATFB17 3
  • LQT10 3

External Ids for SCN4B Gene

Previous GeneCards Identifiers for SCN4B Gene

  • GC00U990339
  • GC11U900020
  • GC11M118038
  • 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 Voltage-Gated Channel Beta Subunit 4) is a Protein Coding gene. Diseases associated with SCN4B include long qt syndrome-10 and familial atrial fibrillation. Among its related pathways are cGMP-PKG signaling pathway and Antiarrhythmic Pathway, Pharmacodynamics. 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.

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

Enhancers for SCN4B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SCN4B on UCSC Golden Path with GeneCards custom track

Genomic Location for SCN4B Gene

Chromosome:
11
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

Genes around SCN4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for SCN4B Gene

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

Human Phenotype Ontology for SCN4B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for SCN4B Gene

miRTarBase miRNAs that target SCN4B

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
genes like me logo Genes that share ontologies with SCN4B: view

Pathways & Interactions for SCN4B Gene

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

Gene Ontology (GO) - Biological Process for SCN4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP 17592081
GO:0086012 membrane depolarization during cardiac muscle cell action potential IMP 17592081
GO:0086016 AV node cell action potential IMP 17592081
GO:0086091 regulation of heart rate by cardiac conduction IMP 17592081
GO:2000649 regulation of sodium ion transmembrane transporter activity IDA 17592081
genes like me logo Genes that share ontologies with SCN4B: view

No data available for SIGNOR curated interactions for SCN4B Gene

Drugs & Compounds for SCN4B Gene

(5) Drugs for SCN4B Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 65
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 312
β-Pompilidotoxin Pharma Slows Na+ channel inactivation 0
Veratridine Pharma Activator Voltage-gated Na+ channel opener 0
Vinpocetine Pharma Inhibition, Inhibitor PDE inhibitor, Na+ channel blocker 4

(4) Additional Compounds for SCN4B Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Amiloride hydrochloride
2016-88-8
Flunarizine dihydrochloride
30484-77-6
Riluzole hydrochloride
850608-87-6

(5) Tocris Compounds for SCN4B Gene

Compound Action Cas Number
Amiloride hydrochloride Na+ channel blocker; also I2 imidazoline ligand 2016-88-8
Flunarizine dihydrochloride Dual Na+/Ca2+ channel (T-type) blocker 30484-77-6
Riluzole hydrochloride Glutamate release inhibitor/GABA uptake inhibitor 850608-87-6
Veratridine Voltage-gated Na+ channel opener 71-62-5
Vinpocetine Na+ channel blocker 42971-09-5

(1) ApexBio Compounds for SCN4B Gene

Compound Action Cas Number
β-Pompilidotoxin Slows Na+ channel inactivation 216064-36-7
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:

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) (x10.3), Brain - Caudate (basal ganglia) (x7.1), and Brain - Nucleus accumbens (basal ganglia) (x4.8).

Protein differential expression in normal tissues from HIPED for SCN4B Gene

This gene is overexpressed in Frontal cortex (29.2), Spinal cord (22.3), and Fetal ovary (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SCN4B: view

Protein tissue co-expression partners for SCN4B Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia SCN4B 35
  • 99.42 (n)
  • 99.12 (a)
SCN4B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scn4b 35
  • 83.63 (n)
  • 80.26 (a)
oppossum
(Monodelphis domestica)
Mammalia SCN4B 36
  • 67 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia scn4b 35
  • 59.52 (n)
  • 55.61 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68679 35
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
VAR_043488 Long QT syndrome 10 (LQT10)
VAR_071317 Atrial fibrillation, familial, 17 (ATFB17)
VAR_071318 Atrial fibrillation, familial, 17 (ATFB17)
rs583490 -- 118,151,893(-) GGACA(C/T)GGAGG intron-variant
rs586053 -- 118,149,853(-) GGAGT(C/T)CCAAA intron-variant

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

Variation tolerance for SCN4B Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCN4B Gene

HapMap Linkage Disequilibrium report
SCN4B
Human Gene Mutation Database (HGMD)
SCN4B

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

Disorders for SCN4B Gene

MalaCards: The human disease database

(12) MalaCards diseases for SCN4B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome-10
  • atrial fibrillation, familial, 17
familial atrial fibrillation
  • atrial fibrillation, familial, 1
long qt syndrome
  • long q-t syndrome
atrial fibrillation
  • a-fib
erythromelalgia
  • mitchell disease
- elite association - COSMIC cancer census association via MalaCards
Search SCN4B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCN4B_HUMAN
  • 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.
  • 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.

Relevant External Links for SCN4B

Genetic Association Database (GAD)
SCN4B
Human Genome Epidemiology (HuGE) Navigator
SCN4B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCN4B
genes like me logo Genes that share disorders with SCN4B: view

No data available for Genatlas for SCN4B Gene

Publications for SCN4B Gene

  1. Mutations of the SCN4B-encoded sodium channel I^4 subunit in familial atrial fibrillation. (PMID: 23604097) Li R.G. … Yang Y.Q. (Int. J. Mol. Med. 2013) 3 4 67
  2. The antiepileptic drug zonisamide inhibits MAO-B and attenuates MPTP toxicity in mice: clinical relevance. (PMID: 19948168) Sonsalla P.K. … Buckley B. (Exp. Neurol. 2010) 25 26
  3. Zonisamide in the treatment of epilepsy. (PMID: 20001433) Schulze-Bonhage A. (Expert Opin Pharmacother 2010) 25 26
  4. Long-term safety and effectiveness of zonisamide in the treatment of epilepsy: a review of the literature. (PMID: 19557119) Zaccara G. … Specchio L.M. (Neuropsychiatr Dis Treat 2009) 25 26
  5. [Role of zonisamid in treating epilepsy, Parkinson disorders and other neurological diseases]. (PMID: 20025128) Janszky J. (Ideggyogy Sz 2009) 25 26

Products for SCN4B Gene

Sources for SCN4B Gene

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