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O60939

- SCN2B_HUMAN

UniProt

O60939 - SCN2B_HUMAN

Protein

Sodium channel subunit beta-2

Gene

SCN2B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
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    Functioni

    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.By similarity

    GO - Molecular functioni

    1. sodium channel regulator activity Source: BHF-UCL
    2. voltage-gated sodium channel activity involved in cardiac muscle cell action potential Source: BHF-UCL

    GO - Biological processi

    1. cardiac muscle cell action potential involved in contraction Source: BHF-UCL
    2. cardiac muscle contraction Source: BHF-UCL
    3. membrane depolarization during cardiac muscle cell action potential Source: GOC
    4. nervous system development Source: Ensembl
    5. regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
    6. regulation of heart rate by cardiac conduction Source: BHF-UCL
    7. regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
    8. response to pyrethroid Source: Ensembl
    9. sodium ion transmembrane transport Source: BHF-UCL
    10. synaptic transmission Source: ProtInc

    Keywords - Molecular functioni

    Ion channel, Sodium channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Sodium transport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_22266. Interaction between L1 and Ankyrins.

    Protein family/group databases

    TCDBi8.A.17.2.1. the na(+) channel auxiliary subunit 1-4 (sca-) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium channel subunit beta-2
    Gene namesi
    Name:SCN2B
    ORF Names:UNQ326/PRO386
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:10589. SCN2B.

    Subcellular locationi

    GO - Cellular componenti

    1. voltage-gated sodium channel complex Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281R → Q in ATFB14; the mutant results in reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 Publication
    VAR_070229
    Natural varianti28 – 281R → W in ATFB14; the mutant results in reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 Publication
    Corresponds to variant rs17121819 [ dbSNP | Ensembl ].
    VAR_029131
    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.1 Publication

    Keywords - Diseasei

    Atrial fibrillation, Brugada syndrome, Disease mutation

    Organism-specific databases

    MIMi615378. phenotype.
    Orphaneti334. Familial atrial fibrillation.
    PharmGKBiPA303.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2929By similarityAdd
    BLAST
    Chaini30 – 215186Sodium channel subunit beta-2PRO_0000014931Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi42 – 421N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi50 ↔ 1271 PublicationPROSITE-ProRule annotation
    Disulfide bondi55 – 55Interchain; with alpha subunit1 PublicationPROSITE-ProRule annotation
    Glycosylationi66 – 661N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi74 – 741N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiO60939.
    PeptideAtlasiO60939.
    PRIDEiO60939.

    PTM databases

    PhosphoSiteiO60939.

    Miscellaneous databases

    PMAP-CutDBO60939.

    Expressioni

    Tissue specificityi

    Brain specific.

    Gene expression databases

    ArrayExpressiO60939.
    BgeeiO60939.
    CleanExiHS_SCN2B.
    GenevestigatoriO60939.

    Organism-specific databases

    HPAiHPA012585.

    Interactioni

    Subunit structurei

    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.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000278947.

    Structurei

    3D structure databases

    ProteinModelPortaliO60939.
    SMRiO60939. Positions 35-129.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini30 – 159130ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini181 – 21535CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei160 – 18021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini32 – 154123Ig-like C2-typeAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG26453.
    HOGENOMiHOG000118120.
    HOVERGENiHBG003443.
    InParanoidiO60939.
    KOiK04846.
    OMAiHGKIYLQ.
    OrthoDBiEOG7NSB42.
    PhylomeDBiO60939.
    TreeFamiTF331728.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR013106. Ig_V-set.
    IPR000920. Myelin_P0.
    [Graphical view]
    PfamiPF07686. V-set. 1 hit.
    [Graphical view]
    PRINTSiPR00213. MYELINP0.
    SMARTiSM00409. IG. 1 hit.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    O60939-1 [UniParc]FASTAAdd to Basket

    « Hide

    MHRDAWLPRP AFSLTGLSLF FSLVPPGRSM EVTVPATLNV LNGSDARLPC    50
    TFNSCYTVNH KQFSLNWTYQ ECNNCSEEMF LQFRMKIINL KLERFQDRVE 100
    FSGNPSKYDV SVMLRNVQPE DEGIYNCYIM NPPDRHRGHG KIHLQVLMEE 150
    PPERDSTVAV IVGASVGGFL AVVILVLMVV KCVRRKKEQK LSTDDLKTEE 200
    EGKTDGEGNP DDGAK 215
    Length:215
    Mass (Da):24,326
    Last modified:August 1, 1998 - v1
    Checksum:i94A30A60A32683F3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2 – 21H → Q in AAC26013. (PubMed:9295116)Curated
    Sequence conflicti8 – 81P → L in AAC26013. (PubMed:9295116)Curated
    Sequence conflicti15 – 151T → N in AAC26013. (PubMed:9295116)Curated
    Sequence conflicti48 – 481L → Q in AAC26013. (PubMed:9295116)Curated
    Sequence conflicti68 – 681T → S in AAC26013. (PubMed:9295116)Curated
    Sequence conflicti156 – 1561S → F in AAD47196. 1 PublicationCurated
    Sequence conflicti178 – 1792MV → TA in AAC26013. (PubMed:9295116)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281R → Q in ATFB14; the mutant results in reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 Publication
    VAR_070229
    Natural varianti28 – 281R → W in ATFB14; the mutant results in reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 Publication
    Corresponds to variant rs17121819 [ dbSNP | Ensembl ].
    VAR_029131
    Natural varianti47 – 471R → H.
    Corresponds to variant rs17121818 [ dbSNP | Ensembl ].
    VAR_029132
    Natural varianti211 – 2111D → G Found in a patient with Brugada syndrome; unknown pathological significance; induces a reduction in sodium current density most likely by decreasing SCN5A protein cell surface expression. 1 Publication
    VAR_070230

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF007783 mRNA. Translation: AAC26013.1.
    AF049498 mRNA. Translation: AAC05274.1.
    AF049497, AF049496 Genomic DNA. Translation: AAC05208.1.
    AF107028 mRNA. Translation: AAD47196.1.
    U87555 mRNA. Translation: AAF21472.1.
    AY358945 mRNA. Translation: AAQ89304.1.
    BC036793 mRNA. Translation: AAH36793.1.
    CCDSiCCDS8390.1.
    RefSeqiNP_004579.1. NM_004588.4.
    UniGeneiHs.129783.

    Genome annotation databases

    EnsembliENST00000278947; ENSP00000278947; ENSG00000149575.
    GeneIDi6327.
    KEGGihsa:6327.
    UCSCiuc001psf.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF007783 mRNA. Translation: AAC26013.1 .
    AF049498 mRNA. Translation: AAC05274.1 .
    AF049497 , AF049496 Genomic DNA. Translation: AAC05208.1 .
    AF107028 mRNA. Translation: AAD47196.1 .
    U87555 mRNA. Translation: AAF21472.1 .
    AY358945 mRNA. Translation: AAQ89304.1 .
    BC036793 mRNA. Translation: AAH36793.1 .
    CCDSi CCDS8390.1.
    RefSeqi NP_004579.1. NM_004588.4.
    UniGenei Hs.129783.

    3D structure databases

    ProteinModelPortali O60939.
    SMRi O60939. Positions 35-129.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000278947.

    Chemistry

    BindingDBi O60939.

    Protein family/group databases

    TCDBi 8.A.17.2.1. the na(+) channel auxiliary subunit 1-4 (sca-) family.

    PTM databases

    PhosphoSitei O60939.

    Proteomic databases

    PaxDbi O60939.
    PeptideAtlasi O60939.
    PRIDEi O60939.

    Protocols and materials databases

    DNASUi 6327.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000278947 ; ENSP00000278947 ; ENSG00000149575 .
    GeneIDi 6327.
    KEGGi hsa:6327.
    UCSCi uc001psf.2. human.

    Organism-specific databases

    CTDi 6327.
    GeneCardsi GC11M118033.
    HGNCi HGNC:10589. SCN2B.
    HPAi HPA012585.
    MIMi 601327. gene.
    615378. phenotype.
    neXtProti NX_O60939.
    Orphaneti 334. Familial atrial fibrillation.
    PharmGKBi PA303.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG26453.
    HOGENOMi HOG000118120.
    HOVERGENi HBG003443.
    InParanoidi O60939.
    KOi K04846.
    OMAi HGKIYLQ.
    OrthoDBi EOG7NSB42.
    PhylomeDBi O60939.
    TreeFami TF331728.

    Enzyme and pathway databases

    Reactomei REACT_22266. Interaction between L1 and Ankyrins.

    Miscellaneous databases

    GeneWikii SCN2B.
    GenomeRNAii 6327.
    NextBioi 24558.
    PMAP-CutDB O60939.
    PROi O60939.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60939.
    Bgeei O60939.
    CleanExi HS_SCN2B.
    Genevestigatori O60939.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR013106. Ig_V-set.
    IPR000920. Myelin_P0.
    [Graphical view ]
    Pfami PF07686. V-set. 1 hit.
    [Graphical view ]
    PRINTSi PR00213. MYELINP0.
    SMARTi SM00409. IG. 1 hit.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structure and chromosomal localization of the beta2 subunit of the human brain sodium channel."
      Eubanks J., Srinivasan J., Dinulos M.B., Disteche C.M., Catterall W.A.
      NeuroReport 8:2775-2779(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Brain.
    3. "Whether 'slip-mode conductance' occurs."
      Cruz J.S., Santana L.F., Frederick C.A., Isom L.L., Malhotra J.D., Mattei L.N., Kass R.S., Xia J., An R.-H., Lederer W.J.
      Science 284:711-711(1999)
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart.
    4. "Primary structure and functional expression of a beta 2 subunit of human infant brain sodium channels."
      Isom L.L., Mattei L.N., Ragsdale D.S.
      Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    7. "Identification of the cysteine residue responsible for disulfide linkage of Na+ channel alpha and beta2 subunits."
      Chen C., Calhoun J.D., Zhang Y., Lopez-Santiago L., Zhou N., Davis T.H., Salzer J.L., Isom L.L.
      J. Biol. Chem. 287:39061-39069(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT, DISULFIDE BONDS.
    8. "Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation."
      Watanabe H., Darbar D., Kaiser D.W., Jiramongkolchai K., Chopra S., Donahue B.S., Kannankeril P.J., Roden D.M.
      Circ. Arrhythm. Electrophysiol. 2:268-275(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ATFB14 GLN-28 AND TRP-28, CHARACTERIZATION OF VARIANTS ATFB14 GLN-28 AND TRP-28.
    9. "A missense mutation in the sodium channel beta2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome."
      Riuro H., Beltran-Alvarez P., Tarradas A., Selga E., Campuzano O., Verges M., Pagans S., Iglesias A., Brugada J., Brugada P., Vazquez F.M., Perez G.J., Scornik F.S., Brugada R.
      Hum. Mutat. 34:961-966(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLY-211, CHARACTERIZATION OF VARIANT GLY-211, POSSIBLE INVOLVEMENT IN BRUGADA SYNDROME.

    Entry informationi

    Entry nameiSCN2B_HUMAN
    AccessioniPrimary (citable) accession number: O60939
    Secondary accession number(s): O75302, Q9UNN3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 134 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3