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Aliases for SCN4B Gene

Aliases for SCN4B Gene

  • Sodium Voltage-Gated Channel Beta Subunit 4 2 3 5
  • Sodium Channel, Voltage-Gated, Type IV, Beta Subunit 2 3
  • Sodium Channel, Voltage Gated, Type IV Beta Subunit 2
  • 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
  • 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 Long Qt Syndrome 1. Among its related pathways are Cardiac conduction and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include ion channel binding and voltage-gated sodium channel activity. An important paralog of this gene is SCN2B.

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

Additional gene information for SCN4B Gene

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

Genomics for SCN4B Gene

GeneHancer (GH) Regulatory Elements for SCN4B Gene

Promoters and enhancers for SCN4B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I118152 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 -0.1 -72 0.4 MXI1 ZBTB6 ZNF76 ZIC2 ZNF2 HIC1 ZNF335 ZFHX2 CTBP1 GLIS2 SCN4B GC11P118174
GH11I118082 Enhancer 1.2 Ensembl ENCODE dbSUPER 17.9 +69.0 68972 2.6 RARA NR2F2 ZNF217 NFIL3 SMARCA4 ETV4 CEBPA NR2C1 KDM1A MYC SCN4B TMPRSS13 IL10RA JAML SMIM35 TMPRSS4
GH11I118174 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 12.7 -22.8 -22786 2.1 ELF3 ZFP64 RAD21 RFX5 YY1 ZNF335 ZNF366 RXRA CEBPB ZNF398 SCN2B GC11P118174 SCN4B CD3D CD3G CD3E TMPRSS4 FXYD6 FXYD6-FXYD2 TTC36
GH11I118273 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -122.8 -122814 5.3 PKNOX1 NEUROD1 BATF BRCA1 RFX5 RCOR1 FOS IKZF2 SMARCC1 CEBPB CD3E MPZL3 SCN4B CD3D CD3G UBE4A ENSG00000271751 JAML MPZL2 FXYD6
GH11I118074 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 10.5 +75.5 75532 5.4 PKNOX1 NFIB ZBTB7B HSF1 FOS EGR2 HCFC1 GATAD2B ZNF592 SREBF1 TMPRSS4 SCN4B LOC101929089 TMPRSS13 SMIM35
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SCN4B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCN4B gene promoter:

Genomic Locations for SCN4B Gene

Genomic Locations for SCN4B Gene
chr11:118,133,377-118,152,915
(GRCh38/hg38)
Size:
19,539 bases
Orientation:
Minus strand
chr11:118,004,092-118,023,630
(GRCh37/hg19)

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

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

Gene Families for SCN4B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SCN4B Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWT1

UniProtKB/Swiss-Prot:

SCN4B_HUMAN :
  • Belongs to the sodium channel auxiliary subunit SCN4B (TC 8.A.17) family.
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.

Phenotypes From GWAS Catalog for SCN4B Gene

Gene Ontology (GO) - Molecular Function for SCN4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005248 voltage-gated sodium channel activity IDA 12930796
GO:0005272 sodium channel activity IEA --
GO:0017080 sodium channel regulator activity IDA 17592081
GO:0044325 ion channel binding IPI 17592081
genes like me logo Genes that share ontologies with SCN4B: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCN4B gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 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 IEA --
GO:0014704 intercalated disc ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SCN4B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCN4B Gene

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IDA,IEA 12930796
GO:0010765 positive regulation of sodium ion transport IDA 17592081
GO:0034765 regulation of ion transmembrane transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma Target, inhibitor, blocker Antiepileptic with anticonvulsant and mechanistic effect 69
Brivaracetam Approved, Investigational Pharma Target, inhibitor ligand for SV2A, selective and high-affinity 0
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333
β-Pompilidotoxin Pharma Slows Na+ channel inactivation 0

(2) Additional Compounds for SCN4B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(3) Tocris Compounds for SCN4B Gene

Compound Action Cas Number
Amiloride hydrochloride Na+ channel blocker; also I2 imidazoline ligand 2016-88-8
Carbamazepine Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 298-46-4
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

Drug Products

Transcripts for SCN4B Gene

Unigene Clusters for SCN4B Gene

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

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SCN4B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCN4B Gene:

SCN4B

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.

Evidence on tissue expression from TISSUES for SCN4B Gene

  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN4B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
genes like me logo Genes that share expression patterns with SCN4B: view

Primer 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 33 34
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia SCN4B 33 34
  • 88.6 (n)
dog
(Canis familiaris)
Mammalia SCN4B 33 34
  • 86.28 (n)
rat
(Rattus norvegicus)
Mammalia Scn4b 33
  • 83.63 (n)
mouse
(Mus musculus)
Mammalia Scn4b 33 16 34
  • 83.19 (n)
oppossum
(Monodelphis domestica)
Mammalia SCN4B 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCN4B 33 34
  • 70.41 (n)
lizard
(Anolis carolinensis)
Reptilia SCN4B 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn4b 33
  • 59.52 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68679 33
zebrafish
(Danio rerio)
Actinopterygii scn4ba 33 34
  • 59.15 (n)
scn4bb 34
  • 42 (a)
OneToMany
Species where no ortholog for SCN4B was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs112363898 uncertain-significance, not provided, not specified 118,145,097(-) T/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs113579428 likely-benign, Romano-Ward syndrome, Long QT syndrome 118,136,138(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs113659925 uncertain-significance, Dilated cardiomyopathy 118,144,025(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs114345754 likely-benign, Romano-Ward syndrome, Long QT syndrome 118,134,531(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs117263855 likely-benign, Long QT syndrome, Romano-Ward syndrome 118,135,956(-) A/G 3_prime_UTR_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv556464 CNV gain 21841781
nsv519116 CNV loss 19592680
nsv468878 CNV gain 19166990
nsv1159938 CNV duplication 26073780
nsv1049373 CNV loss 25217958
esv3892103 CNV gain 25118596
esv3627864 CNV loss 21293372

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)

Additional Variant Information for SCN4B Gene

Human Gene Mutation Database (HGMD)
SCN4B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN4B

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

Disorders for SCN4B Gene

MalaCards: The human disease database

(10) MalaCards diseases for SCN4B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 10
  • lqt10
long qt syndrome 1
  • lqt1
familial atrial fibrillation
  • atrial fibrillation, familial, 1
long qt syndrome
  • romano-ward syndrome
erythromelalgia
  • primary erythermalgia
- 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.

Additional Disease Information for SCN4B

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

No data available for Genatlas for SCN4B Gene

Publications for SCN4B Gene

  1. Crystallographic insights into sodium-channel modulation by the β4 subunit. (PMID: 24297919) Gilchrist J … Bosmans F (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
  2. Mutations of the SCN4B-encoded sodium channel β4 subunit in familial atrial fibrillation. (PMID: 23604097) Li RG … Yang YQ (International journal of molecular medicine 2013) 3 4 58
  3. Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. (PMID: 21051419) Olesen MS … Svendsen JH (Cardiovascular research 2011) 3 4 58
  4. Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. (PMID: 19808477) Watanabe H … Roden DM (Circulation. Arrhythmia and electrophysiology 2009) 3 44 58
  5. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. (PMID: 17592081) Medeiros-Domingo A … Ackerman MJ (Circulation 2007) 3 4 58

Products for SCN4B Gene

Sources for SCN4B Gene

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