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Aliases for SCN3B Gene

Aliases for SCN3B Gene

  • Sodium Voltage-Gated Channel Beta Subunit 3 2 3 5
  • Sodium Channel, Voltage-Gated, Type III, Beta Subunit 2 3
  • Sodium Channel, Voltage Gated, Type III Beta Subunit 2
  • Sodium Channel, Voltage-Gated, Type III, Beta 2
  • Voltage-Gated Sodium Channel Beta-3 Subunit 3
  • Sodium Channel Subunit Beta-3 3
  • HSA243396 3
  • KIAA1158 4
  • ATFB16 3
  • BRGDA7 3
  • SCNB3 3

External Ids for SCN3B Gene

Previous GeneCards Identifiers for SCN3B Gene

  • GC11M125013
  • GC11M123533
  • GC11M123037
  • GC11M123039
  • GC11M123005
  • GC11M119441
  • GC11M123500

Summaries for SCN3B Gene

Entrez Gene Summary for SCN3B Gene

  • Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for SCN3B Gene

SCN3B (Sodium Voltage-Gated Channel Beta Subunit 3) is a Protein Coding gene. Diseases associated with SCN3B include Brugada Syndrome 7 and Brugada Syndrome. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Developmental Biology. GO annotations related to this gene include ion channel binding and voltage-gated sodium channel activity. An important paralog of this gene is SCN1B.

UniProtKB/Swiss-Prot for SCN3B Gene

  • Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. 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 (By similarity).

Tocris Summary for SCN3B 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 SCN3B Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN3B Gene

Genomics for SCN3B Gene

Regulatory Elements for SCN3B Gene

Enhancers for SCN3B 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
GH11G123543 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.6 +109.7 109669 5.1 PKNOX1 KLF1 JUN WRNIP1 INSM2 CEBPG EBF1 ZNF664 ZNF366 EED SCN3B UBASH3B GC11P123564 GC11M123460
GH11G123576 1.2 Ensembl ENCODE dbSUPER 10.4 +78.1 78098 0.7 HDGF CTCF FOXA2 WRNIP1 MAX RAD21 EED ZNF143 SMC3 CREM GRAMD1B SCN3B GC11M123576 GC11M123574
GH11G123535 1.3 Ensembl ENCODE dbSUPER 9.1 +118.1 118068 2.8 HDGF RAD21 ZNF366 CBX5 SCRT2 ETV6 RELB IKZF2 ZNF654 USF2 SCN3B GC11P123564 GC11M123460
GH11G123628 0.7 ENCODE 11.4 +25.9 25873 1.1 HDAC1 TAL1 SIN3A FOSL1 TCF12 ARID1B JUND GATA2 POLR2A EGR1 SCN3B GC11P123628 LOC105369543
GH11G123707 0.6 ENCODE 10.9 -52.5 -52524 0.2 CTCF ZNF654 TRIM22 SMC3 REST RAD21 SCN3B GC11P123730
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SCN3B on UCSC Golden Path with GeneCards custom track

Promoters for SCN3B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000046383 744 1001 ARID4B SIN3A FEZF1 ZNF48 GLIS2 ZNF143 KLF13 SP3 TSHZ1 MIER2

Genomic Location for SCN3B Gene

Chromosome:
11
Start:
123,629,187 bp from pter
End:
123,655,244 bp from pter
Size:
26,058 bases
Orientation:
Minus strand

Genomic View for SCN3B Gene

Genes around SCN3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN3B Gene

Proteins for SCN3B Gene

  • Protein details for SCN3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY72-SCN3B_HUMAN
    Recommended name:
    Sodium channel subunit beta-3
    Protein Accession:
    Q9NY72
    Secondary Accessions:
    • A5H1I5
    • Q17RL3
    • Q9ULR2

    Protein attributes for SCN3B Gene

    Size:
    215 amino acids
    Molecular mass:
    24702 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, beta-3 and/or beta-4 subunits. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 and beta-4 are covalently linked by disulfide bonds (By similarity).
    SequenceCaution:
    • Sequence=BAA86472.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SCN3B Gene

neXtProt entry for SCN3B Gene

Post-translational modifications for SCN3B Gene

  • Glycosylation at Asn95, isoforms=109, Asn113, and Asn121
  • Modification sites at PhosphoSitePlus

Other Protein References for SCN3B Gene

No data available for DME Specific Peptides for SCN3B Gene

Domains & Families for SCN3B Gene

Suggested Antigen Peptide Sequences for SCN3B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NY72

UniProtKB/Swiss-Prot:

SCN3B_HUMAN :
  • Belongs to the sodium channel auxiliary subunit SCN3B (TC 8.A.17) family.
Family:
  • Belongs to the sodium channel auxiliary subunit SCN3B (TC 8.A.17) family.
genes like me logo Genes that share domains with SCN3B: view

Function for SCN3B Gene

Molecular function for SCN3B Gene

UniProtKB/Swiss-Prot Function:
Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. 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 (By similarity).

Gene Ontology (GO) - Molecular Function for SCN3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005248 voltage-gated sodium channel activity NAS 10688874
GO:0005272 sodium channel activity IEA --
GO:0017080 sodium channel regulator activity IMP 20042427
GO:0044325 ion channel binding IPI 20042427
genes like me logo Genes that share ontologies with SCN3B: view
genes like me logo Genes that share phenotypes with SCN3B: view

Human Phenotype Ontology for SCN3B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCN3B Gene

MGI Knock Outs for SCN3B:

Animal Model Products

  • Taconic Biosciences Mouse Models for SCN3B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCN3B Gene

Localization for SCN3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN3B Gene

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 SCN3B gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SCN3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex TAS 21895525
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10688874
GO:0030018 Z disc ISS --
genes like me logo Genes that share ontologies with SCN3B: view

Pathways & Interactions for SCN3B Gene

genes like me logo Genes that share pathways with SCN3B: view

Gene Ontology (GO) - Biological Process for SCN3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport NAS 10688874
GO:0007399 nervous system development IEA --
GO:0010460 positive regulation of heart rate ISS --
genes like me logo Genes that share ontologies with SCN3B: view

No data available for SIGNOR curated interactions for SCN3B Gene

Drugs & Compounds for SCN3B Gene

(7) Drugs for SCN3B Gene - From: DrugBank, 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 68
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 327
Tetrodotoxin Investigational Pharma Channel blocker Na+ channel blocker 4
QX 314 bromide Pharma Na+ channel blocker 0

(2) Additional Compounds for SCN3B Gene - From: 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 SCN3B 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 SCN3B: view

Transcripts for SCN3B Gene

Unigene Clusters for SCN3B Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCN3B Gene

No ASD Table

Relevant External Links for SCN3B Gene

GeneLoc Exon Structure for
SCN3B
ECgene alternative splicing isoforms for
SCN3B

Expression for SCN3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCN3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCN3B Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x7.5), Brain - Frontal Cortex (BA9) (x6.8), Brain - Cortex (x6.6), Brain - Hippocampus (x6.2), and Brain - Amygdala (x4.2).

Protein differential expression in normal tissues from HIPED for SCN3B Gene

This gene is overexpressed in Fetal Brain (56.3) and Frontal cortex (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCN3B Gene



Protein tissue co-expression partners for SCN3B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCN3B Gene:

SCN3B

SOURCE GeneReport for Unigene cluster for SCN3B Gene:

Hs.4865

mRNA Expression by UniProt/SwissProt for SCN3B Gene:

Q9NY72-SCN3B_HUMAN
Tissue specificity: Expressed in the atrium.

Evidence on tissue expression from TISSUES for SCN3B Gene

  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN3B Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
genes like me logo Genes that share expression patterns with SCN3B: view

Primer Products

Orthologs for SCN3B Gene

This gene was present in the common ancestor of chordates.

Orthologs for SCN3B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN3B 34 35
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia SCN3B 34 35
  • 92.09 (n)
dog
(Canis familiaris)
Mammalia SCN3B 34 35
  • 92.09 (n)
oppossum
(Monodelphis domestica)
Mammalia SCN3B 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scn3b 34 16 35
  • 89.46 (n)
rat
(Rattus norvegicus)
Mammalia Scn3b 34
  • 89.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SCN3B 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCN3B 34 35
  • 73.18 (n)
lizard
(Anolis carolinensis)
Reptilia SCN3B 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn3b 34
  • 65.12 (n)
zebrafish
(Danio rerio)
Actinopterygii scn3b 34 35
  • 59.38 (n)
Species where no ortholog for SCN3B 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)
  • 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)
  • 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 SCN3B Gene

ENSEMBL:
Gene Tree for SCN3B (if available)
TreeFam:
Gene Tree for SCN3B (if available)

Paralogs for SCN3B Gene

Paralogs for SCN3B Gene

(1) SIMAP similar genes for SCN3B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SCN3B: view

Variants for SCN3B Gene

Sequence variations from dbSNP and Humsavar for SCN3B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs375755770 A colorectal cancer sample 123,638,187(+) TTACG(C/T)GTTTT reference, missense
rs587777556 Pathogenic, Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120] 123,642,502(+) GATGC(A/G/T)CCTCA reference, missense
rs587777557 Pathogenic, Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120] 123,638,288(+) ACATC(A/G)TGATT reference, missense
rs587777558 Pathogenic, Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120] 123,653,785(+) ACAAT(C/T)TATTG upstream-variant-2KB, reference, missense
VAR_035521 A colorectal cancer sample

Structural Variations from Database of Genomic Variants (DGV) for SCN3B Gene

Variant ID Type Subtype PubMed ID
dgv419e212 CNV loss 25503493
esv2759868 CNV loss 17122850
esv3627959 CNV loss 21293372
nsv556484 CNV loss 21841781

Variation tolerance for SCN3B Gene

Residual Variation Intolerance Score: 35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCN3B Gene

Human Gene Mutation Database (HGMD)
SCN3B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN3B Gene

Disorders for SCN3B Gene

MalaCards: The human disease database

(8) MalaCards diseases for SCN3B Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
brugada syndrome 7
  • atrial fibrillation, familial, 16
brugada syndrome
  • bangungut
scn3b-related familial atrial fibrillation
  • atrial fibrillation, familial, 16
familial atrial fibrillation
  • atrial fibrillation, familial, 1
atrial fibrillation
  • a-fib
- elite association - COSMIC cancer census association via MalaCards
Search SCN3B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCN3B_HUMAN
  • Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120]: 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:20558140, ECO:0000269 PubMed:21051419}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brugada syndrome 7 (BRGDA7) [MIM:613120]: 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:20031595}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCN3B

Genetic Association Database (GAD)
SCN3B
Human Genome Epidemiology (HuGE) Navigator
SCN3B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCN3B
genes like me logo Genes that share disorders with SCN3B: view

No data available for Genatlas for SCN3B Gene

Publications for SCN3B Gene

  1. Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population. (PMID: 20558140) Wang P. … Wang Q.K. (Biochem. Biophys. Res. Commun. 2010) 3 4 46 64
  2. Beta3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics. (PMID: 10688874) Morgan K. … Jackson A.P. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 64
  3. 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 64
  4. Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. (PMID: 20042427) Valdivia C.R. … Makielski J.C. (Cardiovasc. Res. 2010) 3 4 64
  5. 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 46 64

Products for SCN3B Gene

Sources for SCN3B Gene

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