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O60939

- SCN2B_HUMAN

UniProt

O60939 - SCN2B_HUMAN

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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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini30 – 159130ExtracellularSequence AnalysisAdd
BLAST
Transmembranei160 – 18021HelicalSequence AnalysisAdd
BLAST
Topological domaini181 – 21535CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. voltage-gated sodium channel complex Source: UniProtKB
Complete GO annotation...

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

BgeeiO60939.
CleanExiHS_SCN2B.
ExpressionAtlasiO60939. baseline and differential.
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

BioGridi112232. 85 interactions.
STRINGi9606.ENSP00000278947.

Structurei

3D structure databases

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

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_like.
[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

        10         20         30         40         50
MHRDAWLPRP AFSLTGLSLF FSLVPPGRSM EVTVPATLNV LNGSDARLPC
60 70 80 90 100
TFNSCYTVNH KQFSLNWTYQ ECNNCSEEMF LQFRMKIINL KLERFQDRVE
110 120 130 140 150
FSGNPSKYDV SVMLRNVQPE DEGIYNCYIM NPPDRHRGHG KIHLQVLMEE
160 170 180 190 200
PPERDSTVAV IVGASVGGFL AVVILVLMVV KCVRRKKEQK LSTDDLKTEE
210
EGKTDGEGNP DDGAK
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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

BioGridi 112232. 85 interactions.
STRINGi 9606.ENSP00000278947.

Chemistry

DrugBanki DB00313. Valproic Acid.
DB00909. Zonisamide.

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

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

Gene expression databases

Bgeei O60939.
CleanExi HS_SCN2B.
ExpressionAtlasi O60939. baseline and differential.
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_like.
[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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 136 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