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Aliases for SCN2B Gene

Aliases for SCN2B Gene

  • Sodium Channel, Voltage Gated, Type II Beta Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type II, Beta Polypeptide 2 3
  • Sodium Channel, Voltage-Gated, Type II, Beta Subunit 2 3
  • ATFB14 3 6
  • Neuronal Voltage-Gated Sodium Channel Beta 2 Subunit 3
  • Sodium Channel, Voltage-Gated, Type II, Beta 2
  • Sodium Channel Beta 2 Subunit 3
  • Sodium Channel Subunit Beta-2 3

External Ids for SCN2B Gene

Summaries for SCN2B Gene

GeneCards Summary for SCN2B Gene

SCN2B (Sodium Channel, Voltage Gated, Type II Beta Subunit) is a Protein Coding gene. Diseases associated with SCN2B include atrial fibrillation, familial, 14 and atrial fibrillation. Among its related pathways are L1CAM interactions and Activation of cAMP-Dependent PKA. 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 MPZL1.

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. Structurally, Nav channels are composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits. alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments. The fourth transmembrane loop (S4) acts as the voltage sensor and is activated by changes in membrane potential. S4 is also involved in channel gating.

Gene Wiki entry for SCN2B Gene

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

Genomics for SCN2B Gene

Genomic Location for SCN2B Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SCN2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN2B Gene

Regulatory Elements 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).

neXtProt entry for SCN2B Gene

Proteomics data for SCN2B Gene at MOPED

Post-translational modifications for SCN2B Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn42, Asn66, and Asn74

Other Protein References for SCN2B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SCN2B Gene

Domains for SCN2B Gene

Gene Families for SCN2B Gene

HGNC:
  • VSET :Immunoglobulin superfamily / V-set domain containing
  • SC :Sodium channels
  • SCN :Voltage-gated ion channels / Sodium channels

Protein Domains for SCN2B Gene

UniProtKB/Swiss-Prot:

SCN2B_HUMAN
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.:
    • O60939
Family:
  • Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family.:
    • O60939
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:0005248 voltage-gated sodium channel activity --
GO:0005515 protein binding --
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

Animal Models for SCN2B Gene

MGI Knock Outs for SCN2B:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for SCN2B Gene COMPARTMENTS Subcellular localization image for SCN2B gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 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
genes like me logo Genes that share ontologies with SCN2B: view

Pathways for SCN2B Gene

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

Interacting Proteins for SCN2B Gene

Gene Ontology (GO) - Biological Process for SCN2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission TAS 9295116
GO:0007399 nervous system development IEA --
GO:0035725 sodium ion transmembrane transport IDA 19808477
GO:0046684 response to pyrethroid IEA --
GO:0060048 cardiac muscle contraction IMP 19808477
genes like me logo Genes that share ontologies with SCN2B: view

Compounds for SCN2B Gene

(5) Tocris Compounds for SCN2B Gene

Compound Action Cas Number
Phrixotoxin 3 Potent modulator of NaV1.2, NaV1.3 and NaV1.5 channels [880886-00-0]
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]

(1) HMDB Compounds for SCN2B Gene

Compound Synonyms Cas Number PubMed IDs
Sodium
  • Sodium
7440-23-5

(1) Drugbank Compounds for SCN2B Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Zonisamide
  • Zonisamida [Spanish]
68291-97-4 target inhibitor
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:

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 for SCN2B Gene

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

This gene is overexpressed in Brain - Frontal Cortex (BA9) (5.6), Brain - Cortex (5.6), Brain - Cerebellar Hemisphere (5.5), Brain - Cerebellum (5.3), Brain - Anterior cingulate cortex (BA24) (4.8), and Brain - Nucleus accumbens (basal ganglia) (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SCN2B Gene

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

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 36
  • 99.38 (n)
  • 99.53 (a)
SCN2B 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCN2B 36
  • 92.4 (n)
  • 94.88 (a)
SCN2B 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCN2B 36
  • 91.16 (n)
  • 93.95 (a)
SCN2B 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scn2b 36
  • 87.75 (n)
  • 92.09 (a)
Scn2b 16
Scn2b 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCN2B 37
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scn2b 36
  • 88.53 (n)
  • 93.02 (a)
chicken
(Gallus gallus)
Aves SCN2B 36
  • 77.05 (n)
  • 72.56 (a)
SCN2B 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCN2B 37
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn2b 36
  • 65.7 (n)
  • 63.29 (a)
zebrafish
(Danio rerio)
Actinopterygii scn2b 36
  • 60.33 (n)
  • 53.66 (a)
scn2b 37
  • 48 (a)
OneToOne
Species with no ortholog for SCN2B:
  • 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

Selected 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 MAF
rs583581 -- 118,165,288(-) ttcCA(A/G)CTGAC utr-variant-3-prime
rs587241 -- 118,171,005(-) CAGGC(C/T)GCAGG intron-variant
rs595678 -- 118,178,367(+) TTTTA(A/G)TAGAG upstream-variant-2KB
rs595855 -- 118,164,796(-) TATTA(A/T)GTGCC utr-variant-3-prime
rs598131 -- 118,164,342(-) GGTGG(A/G)TGGCG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv1318n71 CNV Gain 21882294
nsv898412 CNV Gain 21882294
nsv519116 CNV Loss 19592680

Relevant External Links for SCN2B Gene

HapMap Linkage Disequilibrium report
SCN2B
Human Gene Mutation Database (HGMD)
SCN2B

Disorders for SCN2B Gene

(1) OMIM Diseases for SCN2B Gene (601327)

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}.

(2) University of Copenhagen DISEASES for SCN2B Gene

Relevant External Links for SCN2B

Genetic Association Database (GAD)
SCN2B
Human Genome Epidemiology (HuGE) Navigator
SCN2B
genes like me logo Genes that share disorders with SCN2B: view

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 49
  2. 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 49
  3. 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
  4. Structure and chromosomal localization of the beta2 subunit of the human brain sodium channel. (PMID: 9295116) Eubanks J. … Catterall W.A. (NeuroReport 1997) 3 4
  5. Exclusion of the SCN2B gene as candidate for CMT4B. (PMID: 9887383) Bolino A. … Devoto M. (Eur. J. Hum. Genet. 1998) 3 4

Products for SCN2B Gene

Sources for SCN2B Gene

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