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Aliases for SCN2B Gene

Aliases for SCN2B Gene

  • Sodium Voltage-Gated Channel Beta Subunit 2 2 3 5
  • Sodium Channel, Voltage-Gated, Type II, Beta Polypeptide 2 3
  • Sodium Channel, Voltage Gated, Type II Beta Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type II, Beta Subunit 2
  • Neuronal Voltage-Gated Sodium Channel Beta 2 Subunit 3
  • Sodium Channel, Voltage-Gated, Type II, Beta 2
  • Sodium Channel Subunit Beta-2 3
  • ATFB14 3

External Ids for SCN2B Gene

Previous GeneCards Identifiers for SCN2B Gene

  • GC11M120392
  • GC11M119545
  • GC11M118070
  • GC11M117573
  • GC11M117542
  • GC11M118033
  • GC11M113967

Summaries for SCN2B Gene

Entrez Gene Summary for SCN2B Gene

  • The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]

GeneCards Summary for SCN2B Gene

SCN2B (Sodium Voltage-Gated Channel Beta Subunit 2) is a Protein Coding gene. Diseases associated with SCN2B include Atrial Fibrillation, Familial, 14 and Scn2b-Related Familial Atrial Fibrillation. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Developmental Biology. GO annotations related to this gene include sodium channel regulator activity and voltage-gated sodium channel activity involved in cardiac muscle cell action potential. An important paralog of this gene is MPZL3.

UniProtKB/Swiss-Prot for SCN2B Gene

  • Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity).

Tocris Summary for SCN2B 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 SCN2B Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN2B Gene

Genomics for SCN2B Gene

Regulatory Elements for SCN2B Gene

Enhancers for SCN2B 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
GH11G118180 1.2 FANTOM5 Ensembl ENCODE 18.7 -3.9 -3885 0.8 CTCF PKNOX1 MXI1 SAP130 ARID4B ZNF48 TFDP1 ZNF121 HDAC2 ZNF341 SCN2B SCN4B FXYD6 DSCAML1 TMEM25 HSPE1P18
GH11G118238 2 FANTOM5 Ensembl ENCODE dbSUPER 9.5 -63.9 -63889 5.1 PKNOX1 ARNT SIN3A YY1 ZNF766 ZNF207 FOS SP5 ZHX2 JUNB JAML MPZL3 ENSG00000254909 ENSG00000254428 RPL23AP64 UBE4A CD3E IL10RA BCL9L ARCN1
GH11G118174 1.1 Ensembl ENCODE 12.5 +1.0 973 2.1 ELF3 PKNOX1 ZSCAN4 ZFP64 RAD21 RFX5 YY1 ZNF366 RELB IKZF2 SCN4B SCN2B CD3D CD3G CD3E TMPRSS4 FXYD6 FXYD6-FXYD2 TTC36 GC11P118174
GH11G118171 1.1 Ensembl ENCODE 11.7 +5.0 4977 0.7 ELF3 RB1 ARID4B ZNF2 ZNF48 RAD21 ZNF143 CREM ZNF654 REST SCN2B CD3D CD3G CD3E TMPRSS4 FXYD6 FXYD6-FXYD2 TTC36 GC11P118174 SCN4B
GH11G118223 1.3 ENCODE dbSUPER 9.8 -50.1 -50081 7.3 PKNOX1 MLX WRNIP1 SLC30A9 ZNF143 FOS KLF13 JUNB REST TBX21 MPZL3 SCN2B MPZL2 JAML PIR47429
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SCN2B on UCSC Golden Path with GeneCards custom track

Genomic Location for SCN2B Gene

Chromosome:
11
Start:
118,161,951 bp from pter
End:
118,176,673 bp from pter
Size:
14,723 bases
Orientation:
Minus strand

Genomic View for SCN2B Gene

Genes around SCN2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN2B Gene

Proteins for SCN2B Gene

  • Protein details for SCN2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60939-SCN2B_HUMAN
    Recommended name:
    Sodium channel subunit beta-2
    Protein Accession:
    O60939
    Secondary Accessions:
    • O75302
    • Q9UNN3

    Protein attributes for SCN2B Gene

    Size:
    215 amino acids
    Molecular mass:
    24326 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).

    Three dimensional structures from OCA and Proteopedia for SCN2B Gene

neXtProt entry for SCN2B Gene

Post-translational modifications for SCN2B Gene

  • Glycosylation at isoforms=42, Asn66, and Asn74
  • Modification sites at PhosphoSitePlus

Other Protein References for SCN2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SCN2B Gene

Domains & Families for SCN2B Gene

Suggested Antigen Peptide Sequences for SCN2B Gene

Graphical View of Domain Structure for InterPro Entry

O60939

UniProtKB/Swiss-Prot:

SCN2B_HUMAN :
  • Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family.
Family:
  • Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family.
genes like me logo Genes that share domains with SCN2B: view

Function for SCN2B Gene

Molecular function for SCN2B Gene

GENATLAS Biochemistry:
sodium voltage-gated channel,type II,auxilliary subunit beta homolog to rat contactin,involved in the initiation and conduction of electrical impulses in nerves,highly similar to myelin protein zero may be involved in demyelinating diseases,CMT2B excluded
UniProtKB/Swiss-Prot Function:
Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity).

Gene Ontology (GO) - Molecular Function for SCN2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005248 voltage-gated sodium channel activity IEA --
GO:0005272 sodium channel activity IEA --
GO:0017080 sodium channel regulator activity IDA 19808477
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 SCN2B: view
genes like me logo Genes that share phenotypes with SCN2B: view

Human Phenotype Ontology for SCN2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCN2B Gene

MGI Knock Outs for SCN2B:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCN2B Gene

Localization for SCN2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN2B 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 SCN2B gene
Compartment Confidence
plasma membrane 5
extracellular 3
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SCN2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex TAS 9295116
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SCN2B: view

Pathways & Interactions for SCN2B Gene

genes like me logo Genes that share pathways with SCN2B: view

Pathways by source for SCN2B Gene

Gene Ontology (GO) - Biological Process for SCN2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0007268 chemical synaptic transmission TAS 9295116
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with SCN2B: view

No data available for SIGNOR curated interactions for SCN2B Gene

Drugs & Compounds for SCN2B Gene

(7) Drugs for SCN2B 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 SCN2B 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 SCN2B 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 SCN2B: view

Transcripts for SCN2B Gene

mRNA/cDNA for SCN2B Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(67) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SCN2B Gene

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

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCN2B Gene

No ASD Table

Relevant External Links for SCN2B Gene

GeneLoc Exon Structure for
SCN2B
ECgene alternative splicing isoforms for
SCN2B

Expression for SCN2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCN2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCN2B Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.6), Brain - Cortex (x5.6), Brain - Cerebellar Hemisphere (x5.5), Brain - Cerebellum (x5.3), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Nucleus accumbens (basal ganglia) (x4.7).

Protein differential expression in normal tissues from HIPED for SCN2B Gene

This gene is overexpressed in Frontal cortex (60.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCN2B Gene



Protein tissue co-expression partners for SCN2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCN2B Gene:

SCN2B

SOURCE GeneReport for Unigene cluster for SCN2B Gene:

Hs.129783

mRNA Expression by UniProt/SwissProt for SCN2B Gene:

O60939-SCN2B_HUMAN
Tissue specificity: Brain specific.

Evidence on tissue expression from TISSUES for SCN2B Gene

  • Nervous system(4.6)
  • Heart(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN2B 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
genes like me logo Genes that share expression patterns with SCN2B: view

Primer Products

Orthologs for SCN2B Gene

This gene was present in the common ancestor of chordates.

Orthologs for SCN2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN2B 34 35
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia SCN2B 34 35
  • 92.4 (n)
dog
(Canis familiaris)
Mammalia SCN2B 34 35
  • 91.16 (n)
rat
(Rattus norvegicus)
Mammalia Scn2b 34
  • 88.53 (n)
mouse
(Mus musculus)
Mammalia Scn2b 34 16 35
  • 87.75 (n)
oppossum
(Monodelphis domestica)
Mammalia SCN2B 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCN2B 34 35
  • 77.05 (n)
lizard
(Anolis carolinensis)
Reptilia SCN2B 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn2b 34
  • 65.7 (n)
zebrafish
(Danio rerio)
Actinopterygii scn2b 34 35
  • 60.33 (n)
Species where no ortholog for SCN2B 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)
  • 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 SCN2B Gene

ENSEMBL:
Gene Tree for SCN2B (if available)
TreeFam:
Gene Tree for SCN2B (if available)

Paralogs for SCN2B Gene

Paralogs for SCN2B Gene

(1) SIMAP similar genes for SCN2B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SCN2B: view

Variants for SCN2B Gene

Sequence variations from dbSNP and Humsavar for SCN2B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs17121819 Pathogenic, Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] 118,168,740(-) CAGGA(C/T)GGAGC reference, missense
rs72544145 Pathogenic, Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] 118,168,739(-) AGGAC(A/G)GAGCA reference, missense
rs144248214 Uncertain significance 118,166,906(+) CATCC(A/G)GGTTG reference, missense
rs200761835 Uncertain significance 118,168,704(+) GAGGA(C/T)GTTGA reference, missense
rs201373014 Uncertain significance 118,176,388(+) GCCCC(A/G)TGAGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SCN2B Gene

Variant ID Type Subtype PubMed ID
nsv519116 CNV loss 19592680

Variation tolerance for SCN2B Gene

Residual Variation Intolerance Score: 42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 8.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCN2B Gene

Human Gene Mutation Database (HGMD)
SCN2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN2B Gene

Disorders for SCN2B Gene

MalaCards: The human disease database

(8) MalaCards diseases for SCN2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
atrial fibrillation, familial, 14
  • atfb14
scn2b-related familial atrial fibrillation
  • atrial fibrillation, familial, 14
familial atrial fibrillation
  • atrial fibrillation, familial, 1
atrial fibrillation
  • a-fib
rasmussen encephalitis
  • re
- elite association - COSMIC cancer census association via MalaCards
Search SCN2B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCN2B_HUMAN
  • Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378]: 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.
  • Note=Genetic variations in SCN2B may be involved in Brugada syndrome (PubMed:23559163). This tachyarrhythmia is 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:23559163}.

Relevant External Links for SCN2B

Genetic Association Database (GAD)
SCN2B
Human Genome Epidemiology (HuGE) Navigator
SCN2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCN2B
genes like me logo Genes that share disorders with SCN2B: view

No data available for Genatlas for SCN2B Gene

Publications for SCN2B Gene

  1. 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 4 46 64
  2. A missense mutation in the sodium channel I^2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. (PMID: 23559163) RiurA^ H. … Brugada R. (Hum. Mutat. 2013) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for SCN2B Gene

Sources for SCN2B Gene

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