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Aliases for SCN1B Gene

Aliases for SCN1B Gene

  • Sodium Channel, Voltage Gated, Type I Beta Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type I, Beta Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type I, Beta Polypeptide 2
  • Sodium Channel, Voltage-Gated, Type I, Beta 2
  • Sodium Channel Beta-1 Subunit 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 Channel, Voltage Gated, Type I Beta Subunit) is a Protein Coding gene. Diseases associated with SCN1B include generalized epilepsy with febrile seizures plus and epilepsy, generalized, with febrile seizures plus, type 1. Among its related pathways are Developmental Biology and Activation of cAMP-Dependent PKA. 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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).

    Alternative splice isoforms for SCN1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN1B Gene

Proteomics data for SCN1B Gene at MOPED

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SCN1B (SCN1B)

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:0005248 voltage-gated sodium channel activity IDA 14622265
GO:0005515 protein binding --
GO:0017080 sodium channel regulator activity IDA 18464934
GO:0019871 sodium channel inhibitor activity ISS 17884088
GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP 19808477
genes like me logo Genes that share ontologies with SCN1B: view
genes like me logo Genes that share phenotypes with SCN1B: view

Animal Models for SCN1B Gene

MGI Knock Outs for SCN1B:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCN1B

In Situ Assay Products

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

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
plasma membrane 4
extracellular 3

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:0014704 intercalated disc ISS --
GO:0030315 T-tubule ISS --
GO:0033268 node of Ranvier ISS --
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

1 PharmGKB pathway for SCN1B Gene
1 KEGG pathway for SCN1B Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SCN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006814 sodium ion transport --
GO:0007155 cell adhesion IEA --
GO:0007268 synaptic transmission TAS 9697698
GO:0007411 axon guidance TAS --
GO:0010765 positive regulation of sodium ion transport IDA 19808477
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

(7) Drugs for SCN1B Gene - From: DrugBank, Tocris, NovoSeek, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 63
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 302
Carbamazepine Approved, Investigational Pharma Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 115
Potassium Experimental Pharma 0
APETx2 Pharma Channel blocker ASIC3 channel blocker; also NaV1.8 and NaV1.2 blocker 0

(3) 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
QX 222
5369-00-6
QX 314 bromide
24003-58-5
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

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



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

Protein tissue co-expression partners for SCN1B Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia SCN1B 35
  • 93.27 (n)
  • 96.79 (a)
SCN1B 36
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCN1B 35
  • 94.04 (n)
  • 97.71 (a)
SCN1B 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scn1b 35
  • 89.14 (n)
  • 96.33 (a)
Scn1b 16
Scn1b 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCN1B 35
  • 99.24 (n)
  • 100 (a)
SCN1B 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scn1b 35
  • 89.91 (n)
  • 96.33 (a)
oppossum
(Monodelphis domestica)
Mammalia SCN1B 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCN1B 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn1b 35
  • 64.54 (n)
  • 62.25 (a)
zebrafish
(Danio rerio)
Actinopterygii scn1ba 35
  • 60.97 (n)
  • 56.28 (a)
SCN1B (2 of 3) 36
  • 27 (a)
OneToMany
scn1ba 36
  • 35 (a)
OneToMany
scn1bb 36
  • 32 (a)
OneToMany
Species with no ortholog for SCN1B:
  • 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 MAF
rs1059841 -- 35,037,668(+) Aggcc(A/G)ggtgt intron-variant
rs1059842 -- 35,037,674(+) ggtgt(A/G)gtggt intron-variant
rs1137017 -- 35,037,721(+) tggga(A/G)gattt intron-variant
rs3746255 Benign 35,033,642(-) TAGTC(A/G)CCCGA reference, synonymous-codon
rs4541179 -- 35,037,320(+) GAGTG(A/G)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCN1B Gene

Variant ID Type Subtype PubMed ID
nsv911610 CNV Loss 21882294
dgv3848n71 CNV Loss 21882294
nsv911613 CNV Loss 21882294

Variation tolerance for SCN1B Gene

Residual Variation Intolerance Score: 24.12% 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

HapMap Linkage Disequilibrium report
SCN1B
Human Gene Mutation Database (HGMD)
SCN1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN1B Gene

Disorders for SCN1B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
generalized epilepsy with febrile seizures plus
  • gefs+
epilepsy, generalized, with febrile seizures plus, type 1
  • generalized epilepsy with febrile seizures plus, type 1
brugada syndrome 5
  • cardiac conduction defect, nonspecific
atrial fibrillation, familial, 13
  • atfb13
scn1b-related cardiac conduction defect, nonspecific
- elite association
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: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. 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 23 67
  2. Quantified proarrhythmic potential of selected human embryonic stem cell-derived cardiomyocytes. (PMID: 20303332) Jonsson M.K. … van Veen T.A. (Stem Cell Res 2010) 23 67
  3. Tubulin polymerization modifies cardiac sodium channel expression and gating. (PMID: 19861310) Casini S. … Veldkamp M.W. (Cardiovasc. Res. 2010) 23 67
  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) 23 67
  5. Zonisamide in the treatment of epilepsy. (PMID: 20001433) Schulze-Bonhage A. (Expert Opin Pharmacother 2010) 25 26

Products for SCN1B Gene

Sources for SCN1B Gene

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