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Protein

Sodium channel subunit beta-2

Gene

SCN2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • sodium channel regulator activity Source: BHF-UCL
  • voltage-gated ion channel activity Source: UniProtKB-KW
  • voltage-gated sodium channel activity involved in cardiac muscle cell action potential Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionIon channel, Sodium channel, Voltage-gated channel
Biological processIon transport, Sodium transport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation

Protein family/group databases

TCDBi8.A.17.2.1 the na(+) channel auxiliary subunit Beta1-Beta4 (sca-Beta) 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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000149575.5
HGNCiHGNC:10589 SCN2B
MIMi601327 gene
neXtProtiNX_O60939

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini30 – 159ExtracellularSequence analysisAdd BLAST130
Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
Topological domaini181 – 215CytoplasmicSequence analysisAdd BLAST35

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Atrial fibrillation, familial, 14 (ATFB14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615378
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07022928R → Q in ATFB14; the mutant results in reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs72544145EnsemblClinVar.1
Natural variantiVAR_02913128R → W in ATFB14; the mutant results in reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs17121819EnsemblClinVar.1
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

DisGeNETi6327
MalaCardsiSCN2B
MIMi615378 phenotype
OpenTargetsiENSG00000149575
Orphaneti130 Brugada syndrome
334 Familial atrial fibrillation
PharmGKBiPA303

Chemistry databases

DrugBankiDB00313 Valproic Acid
DB00909 Zonisamide

Polymorphism and mutation databases

BioMutaiSCN2B

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29By similarityAdd BLAST29
ChainiPRO_000001493130 – 215Sodium channel subunit beta-2Add BLAST186

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi42N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi50 ↔ 127PROSITE-ProRule annotation1 Publication
Disulfide bondi55Interchain; with alpha subunitPROSITE-ProRule annotation1 Publication
Glycosylationi66N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi74N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei192PhosphoserineBy similarity1
Modified residuei204PhosphothreonineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiO60939
PeptideAtlasiO60939
PRIDEiO60939
ProteomicsDBi49682

PTM databases

iPTMnetiO60939
PhosphoSitePlusiO60939

Miscellaneous databases

PMAP-CutDBiO60939

Expressioni

Tissue specificityi

Brain specific.

Gene expression databases

BgeeiENSG00000149575 Expressed in 148 organ(s), highest expression level in caudate nucleus
CleanExiHS_SCN2B
ExpressionAtlasiO60939 baseline and differential
GenevisibleiO60939 HS

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, 87 interactors
CORUMiO60939
STRINGi9606.ENSP00000278947

Structurei

Secondary structure

1215
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO60939
SMRiO60939
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini32 – 154Ig-like C2-typeAdd BLAST123

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II8M Eukaryota
ENOG4111M25 LUCA
GeneTreeiENSGT00900000141020
HOGENOMiHOG000118120
HOVERGENiHBG003443
InParanoidiO60939
KOiK04846
OMAiHGKIYLQ
OrthoDBiEOG091G0O9E
PhylomeDBiO60939
TreeFamiTF331728

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR013106 Ig_V-set
IPR000920 Myelin_P0-rel
IPR029873 SCN2B
PANTHERiPTHR13869 PTHR13869, 1 hit
PTHR13869:SF3 PTHR13869:SF3, 1 hit
PfamiView protein in Pfam
PF07686 V-set, 1 hit
PRINTSiPR00213 MYELINP0
SMARTiView protein in SMART
SM00409 IG, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti2H → Q in AAC26013 (PubMed:9295116).Curated1
Sequence conflicti8P → L in AAC26013 (PubMed:9295116).Curated1
Sequence conflicti15T → N in AAC26013 (PubMed:9295116).Curated1
Sequence conflicti48L → Q in AAC26013 (PubMed:9295116).Curated1
Sequence conflicti68T → S in AAC26013 (PubMed:9295116).Curated1
Sequence conflicti156S → F in AAD47196 (Ref. 3) Curated1
Sequence conflicti178 – 179MV → TA in AAC26013 (PubMed:9295116).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07022928R → Q in ATFB14; the mutant results in reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs72544145EnsemblClinVar.1
Natural variantiVAR_02913128R → W in ATFB14; the mutant results in reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs17121819EnsemblClinVar.1
Natural variantiVAR_02913247R → H. Corresponds to variant dbSNP:rs17121818EnsemblClinVar.1
Natural variantiVAR_070230211D → 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 PublicationCorresponds to variant dbSNP:rs587777023EnsemblClinVar.1

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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
CCDSiCCDS8390.1
RefSeqiNP_004579.1, NM_004588.4
UniGeneiHs.129783

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5FDYX-ray1.85A/B30-153[»]
5FEBX-ray1.35A30-151[»]
ProteinModelPortaliO60939
SMRiO60939
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112232, 87 interactors
CORUMiO60939
STRINGi9606.ENSP00000278947

Chemistry databases

DrugBankiDB00313 Valproic Acid
DB00909 Zonisamide

Protein family/group databases

TCDBi8.A.17.2.1 the na(+) channel auxiliary subunit Beta1-Beta4 (sca-Beta) family

PTM databases

iPTMnetiO60939
PhosphoSitePlusiO60939

Polymorphism and mutation databases

BioMutaiSCN2B

Proteomic databases

PaxDbiO60939
PeptideAtlasiO60939
PRIDEiO60939
ProteomicsDBi49682

Protocols and materials databases

DNASUi6327
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278947; ENSP00000278947; ENSG00000149575
GeneIDi6327
KEGGihsa:6327

Organism-specific databases

CTDi6327
DisGeNETi6327
EuPathDBiHostDB:ENSG00000149575.5
GeneCardsiSCN2B
HGNCiHGNC:10589 SCN2B
MalaCardsiSCN2B
MIMi601327 gene
615378 phenotype
neXtProtiNX_O60939
OpenTargetsiENSG00000149575
Orphaneti130 Brugada syndrome
334 Familial atrial fibrillation
PharmGKBiPA303
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II8M Eukaryota
ENOG4111M25 LUCA
GeneTreeiENSGT00900000141020
HOGENOMiHOG000118120
HOVERGENiHBG003443
InParanoidiO60939
KOiK04846
OMAiHGKIYLQ
OrthoDBiEOG091G0O9E
PhylomeDBiO60939
TreeFamiTF331728

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation

Miscellaneous databases

ChiTaRSiSCN2B human
GeneWikiiSCN2B
GenomeRNAii6327
PMAP-CutDBiO60939
PROiPR:O60939
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149575 Expressed in 148 organ(s), highest expression level in caudate nucleus
CleanExiHS_SCN2B
ExpressionAtlasiO60939 baseline and differential
GenevisibleiO60939 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR013106 Ig_V-set
IPR000920 Myelin_P0-rel
IPR029873 SCN2B
PANTHERiPTHR13869 PTHR13869, 1 hit
PTHR13869:SF3 PTHR13869:SF3, 1 hit
PfamiView protein in Pfam
PF07686 V-set, 1 hit
PRINTSiPR00213 MYELINP0
SMARTiView protein in SMART
SM00409 IG, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSCN2B_HUMAN
AccessioniPrimary (citable) accession number: O60939
Secondary accession number(s): O75302, Q9UNN3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: August 1, 1998
Last modified: November 7, 2018
This is version 166 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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