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Aliases for SCN1B Gene

Aliases for SCN1B Gene

  • Sodium Voltage-Gated Channel Beta Subunit 1 2 3 5
  • Sodium Channel, Voltage Gated, Type I Beta Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type I, Beta 2 3
  • Sodium Channel, Voltage-Gated, Type I, Beta Polypeptide 2
  • Sodium Channel, Voltage-Gated, Type I, Beta Subunit 2
  • Sodium Channel Subunit Beta-1 3
  • ATFB13 3
  • BRGDA5 3
  • GEFSP1 3

External Ids for SCN1B Gene

Previous GeneCards Identifiers for SCN1B Gene

  • GC19P036139
  • GC19P035970
  • GC19P040197
  • GC19P040213
  • GC19P035521
  • GC19P032031

Summaries for SCN1B Gene

Entrez Gene Summary for SCN1B Gene

  • Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

GeneCards Summary for SCN1B Gene

SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1) is a Protein Coding gene. Diseases associated with SCN1B include Atrial Fibrillation, Familial, 13 and Epilepsy, Generalized, With Febrile Seizures Plus, Type 1. Among its related pathways are G-Beta Gamma Signaling and Cardiac conduction. GO annotations related to this gene include sodium channel regulator activity and sodium channel inhibitor activity. An important paralog of this gene is SCN3B.

UniProtKB/Swiss-Prot for SCN1B Gene

  • Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons.

  • Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth.

Tocris Summary for SCN1B 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 SCN1B Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN1B Gene

Genomics for SCN1B Gene

Regulatory Elements for SCN1B Gene

Enhancers for SCN1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F034972 1.5 FANTOM5 Ensembl ENCODE 39.8 -56.2 -56186 3.4 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF302 LSM14A KMT2B KIAA0355 TMEM147-AS1 ZNF792 SCN1B ENSG00000267049 HAUS5 RBM42 GRAMD1A
GH19F034984 0.6 Ensembl ENCODE 19.7 -45.1 -45074 1.3 CTCF ZSCAN18 STAT1 NR2F2 ZNF121 ZNF366 ZBTB48 ZFP3 ZNF580 PRDM10 SCN1B HPN ENSG00000179066 HPN-AS1 FXYD3 MIR6887 ZNF30 GRAMD1A GC19M037449
GH19F034994 1.6 FANTOM5 Ensembl ENCODE 15.7 -29.8 -29753 13.5 HDGF PKNOX1 MLX ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 SLC30A9 TMEM147-AS1 KMT2B ZNF792 LSM14A GRAMD1A HAUS5 RBM42 ENSG00000267049 KIAA0355 ENSG00000269086
GH19F035066 1.1 FANTOM5 Ensembl ENCODE 11.6 +37.4 37355 3.2 ATF1 PKNOX1 ARID4B FEZF1 ZNF2 GLIS2 ZNF143 KLF7 KLF13 ZNF263 TMEM147-AS1 ZNF792 KMT2B RBM42 SDHAF1 HPN ENSG00000271032 LSM14A SCN1B ENSG00000267049
GH19F035085 0.8 ENCODE 11.4 +55.3 55306 2.4 HDGF ZNF263 ZNF146 TBX21 ZNF623 GLIS2 SCRT2 ZNF580 PRDM10 ZNF24 HPN-AS1 MIR6887 FXYD3 HPN SCN1B FAM187B FFAR2 DMKN KRTDAP LOC100420797
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SCN1B on UCSC Golden Path with GeneCards custom track

Promoters for SCN1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001817204 116 1601 ZNF133 ZNF48 ZNF2 ZNF121 GLIS2 KLF7 ZNF548 FOS ZNF202 SP3

Genomic Location for SCN1B Gene

Chromosome:
19
Start:
35,030,684 bp from pter
End:
35,040,449 bp from pter
Size:
9,766 bases
Orientation:
Plus strand

Genomic View for SCN1B Gene

Genes around SCN1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN1B Gene

Proteins for SCN1B Gene

  • Protein details for SCN1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07699-SCN1B_HUMAN
    Recommended name:
    Sodium channel subunit beta-1
    Protein Accession:
    Q07699
    Secondary Accessions:
    • Q5TZZ4
    • Q6TN97

    Protein attributes for SCN1B Gene

    Size:
    218 amino acids
    Molecular mass:
    24707 Da
    Quaternary structure:
    • The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2 and beta-3. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 is covalently linked by disulfide bonds. Beta-1 or beta-3 subunits associate with neurofascin. Associates with SCN10A (By similarity). Interacts with SCN1A (PubMed:15525788, PubMed:17928445). Interacts with SCN8A (PubMed:26900580).

    Alternative splice isoforms for SCN1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN1B Gene

Post-translational modifications for SCN1B Gene

  • Glycosylation at Asn 93, Asn 110, Asn 114, and Asn 135
  • Modification sites at PhosphoSitePlus

Other Protein References for SCN1B Gene

No data available for DME Specific Peptides for SCN1B Gene

Domains & Families for SCN1B Gene

Protein Domains for SCN1B Gene

Graphical View of Domain Structure for InterPro Entry

Q07699

UniProtKB/Swiss-Prot:

SCN1B_HUMAN :
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family.
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
Family:
  • Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family.
genes like me logo Genes that share domains with SCN1B: view

Function for SCN1B Gene

Molecular function for SCN1B Gene

GENATLAS Biochemistry:
sodium voltage-gated channel,type I,beta 1 subunit,expressed in brain,skeletal muscle,heart,required for normal inactivation kinetics of the Na+ channel
UniProtKB/Swiss-Prot Function:
Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons.
UniProtKB/Swiss-Prot Function:
Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth.

Gene Ontology (GO) - Molecular Function for SCN1B 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 19808477
GO:0005272 sodium channel activity IEA --
GO:0005515 protein binding IPI 26900580
GO:0017080 sodium channel regulator activity IDA 18464934
genes like me logo Genes that share ontologies with SCN1B: view
genes like me logo Genes that share phenotypes with SCN1B: view

Human Phenotype Ontology for SCN1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCN1B Gene

MGI Knock Outs for SCN1B:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SCN1B

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCN1B Gene

Localization for SCN1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN1B Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCN1B Gene COMPARTMENTS Subcellular localization image for SCN1B gene
Compartment Confidence
extracellular 5
plasma membrane 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SCN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IDA 19808477
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0014704 intercalated disc IEA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SCN1B: view

Pathways & Interactions for SCN1B Gene

genes like me logo Genes that share pathways with SCN1B: view

Pathways by source for SCN1B Gene

Gene Ontology (GO) - Biological Process for SCN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with SCN1B: view

No data available for SIGNOR curated interactions for SCN1B Gene

Drugs & Compounds for SCN1B Gene

(8) Drugs for SCN1B Gene - From: DrugBank, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 67
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 322
Tetrodotoxin Investigational Pharma Channel blocker Na+ channel blocker 4
QX 314 bromide Pharma Na+ channel blocker 0
QX 314 chloride Pharma Na+ channel blocker 0

(2) Additional Compounds for SCN1B Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Tetrodotoxin citrate
18660-81-6

(5) Tocris Compounds for SCN1B Gene

Compound Action Cas Number
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
Veratridine Voltage-gated Na+ channel opener 71-62-5
genes like me logo Genes that share compounds with SCN1B: view

Transcripts for SCN1B Gene

Unigene Clusters for SCN1B Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SCN1B

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCN1B Gene

No ASD Table

Relevant External Links for SCN1B Gene

GeneLoc Exon Structure for
SCN1B
ECgene alternative splicing isoforms for
SCN1B

Expression for SCN1B Gene

mRNA expression in normal human tissues for SCN1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCN1B Gene

This gene is overexpressed in Muscle - Skeletal (x11.1), Brain - Cerebellum (x4.5), Brain - Cerebellar Hemisphere (x4.4), Brain - Cortex (x4.3), and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for SCN1B Gene

This gene is overexpressed in Heart (42.1) and Frontal cortex (26.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCN1B Gene



Protein tissue co-expression partners for SCN1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCN1B Gene:

SCN1B

SOURCE GeneReport for Unigene cluster for SCN1B Gene:

Hs.436646

mRNA Expression by UniProt/SwissProt for SCN1B Gene:

Q07699-SCN1B_HUMAN
Tissue specificity: The overall expression of isoforms 1 and 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in heart, placenta, lung, liver, kidney and pancreas. In brain, isoform 2 is most abundant in the cerebellum, followed by the cerebral cortex and occipital lobe, while isoform 1 levels are higher in the cortex compared to the cerebellum. Isoform 2 is expressed in many regions of the brain, including cerebellar Purkinje cells, cortex pyramidal neurons and many of the neuronal fibers throughout the brain (at protein level). Also detected in dorsal root ganglion, in fibers of the spinal nerve and in cortical neurons and their processes (at protein level).
genes like me logo Genes that share expression patterns with SCN1B: view

Primer Products

Orthologs for SCN1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for SCN1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN1B 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia SCN1B 34 35
  • 94.04 (n)
cow
(Bos Taurus)
Mammalia SCN1B 34 35
  • 93.27 (n)
rat
(Rattus norvegicus)
Mammalia Scn1b 34
  • 89.91 (n)
mouse
(Mus musculus)
Mammalia Scn1b 34 16 35
  • 89.14 (n)
oppossum
(Monodelphis domestica)
Mammalia SCN1B 35
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCN1B 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn1b 34
  • 64.54 (n)
zebrafish
(Danio rerio)
Actinopterygii scn1ba 34 35
  • 60.97 (n)
scn1bb 35
  • 32 (a)
OneToMany
SCN1B (2 of 3) 35
  • 27 (a)
OneToMany
Species where no ortholog for SCN1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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 SCN1B Gene

ENSEMBL:
Gene Tree for SCN1B (if available)
TreeFam:
Gene Tree for SCN1B (if available)

Paralogs for SCN1B Gene

Paralogs for SCN1B Gene

(1) SIMAP similar genes for SCN1B Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SCN1B: view

Variants for SCN1B Gene

Sequence variations from dbSNP and Humsavar for SCN1B Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs104894718 Pathogenic, Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233] 35,033,654(+) GAGTG(C/G/T)CACGT reference, synonymous-codon, missense
rs16969925 Pathogenic, Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377] 35,033,545(+) TGAGC(A/G)CTTCG reference, missense
rs72550247 Pathogenic, Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377] 35,039,125(+) ACAGA(A/G)ACATG upstream-variant-2KB, reference, missense
VAR_067341 Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]
rs121434627 Pathogenic 35,033,550(+) GCTTC(A/C/G)AGGGC reference, missense

Variation tolerance for SCN1B Gene

Residual Variation Intolerance Score: 24.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.46; 77.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCN1B Gene

Human Gene Mutation Database (HGMD)
SCN1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SCN1B Gene

Disorders for SCN1B Gene

MalaCards: The human disease database

(26) MalaCards diseases for SCN1B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SCN1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCN1B_HUMAN
  • Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]: 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:19808477}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brugada syndrome 5 (BRGDA5) [MIM:612838]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269 PubMed:18464934}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269 PubMed:17928445, ECO:0000269 PubMed:21040232, ECO:0000269 PubMed:9697698}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCN1B

Genetic Association Database (GAD)
SCN1B
Human Genome Epidemiology (HuGE) Navigator
SCN1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCN1B
genes like me logo Genes that share disorders with SCN1B: view

No data available for Genatlas for SCN1B Gene

Publications for SCN1B Gene

  1. Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. (PMID: 19522081) Orrico A. … Sorrentino V. (Clin. Genet. 2009) 3 4 22 46 64
  2. Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B. (PMID: 9697698) Wallace R.H. … Mulley J.C. (Nat. Genet. 1998) 3 4 22 46 64
  3. The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. (PMID: 8394762) McClatchey A.I. … Gusella J.F. (Hum. Mol. Genet. 1993) 2 3 4 22 64
  4. A novel microsatellite polymorphism of sodium channel beta1-subunit gene (SCN1B) may underlie abnormal cardiac excitation manifested by coved-type ST-elevation compatible with Brugada syndrome in Japanese. (PMID: 20137763) Ogawa R. … Echizen H. (Int J Clin Pharmacol Ther 2010) 3 22 46 64
  5. Gene-to-gene interaction between sodium channel-related genes in determining the risk of antiepileptic drug resistance. (PMID: 19270815) Jang S.Y. … Kim Y.S. (J. Korean Med. Sci. 2009) 3 22 46 64

Products for SCN1B Gene

Sources for SCN1B Gene

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