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Entry version 180 (12 Aug 2020)
Sequence version 1 (01 Aug 1998)
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Protein

Sodium channel subunit beta-2

Gene

SCN2B

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei56Binds SCN2A1 Publication1
Sitei135Binds SCN2A1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
O60939

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-445095, Interaction between L1 and Ankyrins
R-HSA-5576892, Phase 0 - rapid depolarisation

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.17.2.1, the na(+) channel auxiliary subunit Beta1-Beta4 (sca-Beta) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sodium channel subunit beta-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SCN2B
ORF Names:UNQ326/PRO386
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000149575.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10589, SCN2B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601327, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60939

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini30 – 159ExtracellularSequence analysisAdd BLAST130
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
Topological domaini181 – 215CytoplasmicSequence analysisAdd BLAST35

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi55C → A or S: Does not bind alpha subunit. Loss of ability to protect alpha subunit from inhibition by the spider protoxin-II. 1 Publication1

Keywords - Diseasei

Atrial fibrillation, Brugada syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6327

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SCN2B

MalaCards human disease database

More...
MalaCardsi
SCN2B
MIMi615378, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000149575

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
130, Brugada syndrome
334, Familial atrial fibrillation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA303

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O60939, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB05541, Brivaracetam
DB00907, Cocaine
DB13269, Dichlorobenzyl alcohol
DB13961, Fish oil
DB00776, Oxcarbazepine
DB00243, Ranolazine
DB00313, Valproic acid
DB00909, Zonisamide

DrugCentral

More...
DrugCentrali
O60939

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SCN2B

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 29Sequence analysisAdd BLAST29
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001493130 – 215Sodium channel subunit beta-2Add BLAST186

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi42N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi50 ↔ 127Combined sources4 Publications
Disulfide bondi55Interchain; with alpha subunitCombined sources4 Publications
Glycosylationi66N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Disulfide bondi72 ↔ 75Combined sources3 Publications
Glycosylationi74N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei192PhosphoserineBy similarity1
Modified residuei204PhosphothreonineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O60939

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O60939

PeptideAtlas

More...
PeptideAtlasi
O60939

PRoteomics IDEntifications database

More...
PRIDEi
O60939

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
49682

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
O60939, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60939

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O60939

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain specific.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000149575, Expressed in caudate nucleus and 164 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O60939, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O60939, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000149575, Group enriched (brain, heart muscle, skeletal muscle)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit (SCN2A) regulated by one or more beta subunits (SCN1B, SCN2B, SCN3B and SCN4B). SCN1B and SCN3B are non-covalently associated with SCN2A. SCN2B and SCN4B are disulfide-linked to SCN2A.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
112232, 87 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
O60939

Protein interaction database and analysis system

More...
IntActi
O60939, 58 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000278947

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O60939, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O60939

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini32 – 154Ig-like C2-typeAdd BLAST123

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502R29H, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT01000000214451

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_090350_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O60939

KEGG Orthology (KO)

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KOi
K04846

Identification of Orthologs from Complete Genome Data

More...
OMAi
TNPPDRH

Database of Orthologous Groups

More...
OrthoDBi
1380581at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O60939

TreeFam database of animal gene trees

More...
TreeFami
TF331728

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

The PANTHER Classification System

More...
PANTHERi
PTHR13869, PTHR13869, 1 hit
PTHR13869:SF3, PTHR13869:SF3, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07686, V-set, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00213, MYELINP0

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00409, IG, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48726, SSF48726, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50835, IG_LIKE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i94A30A60A32683F3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A590UJS3A0A590UJS3_HUMAN
Sodium channel subunit beta-2
SCN2B
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS8390.1

NCBI Reference Sequences

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RefSeqi
NP_004579.1, NM_004588.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000278947; ENSP00000278947; ENSG00000149575

Database of genes from NCBI RefSeq genomes

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GeneIDi
6327

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6327

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5FDYX-ray1.85A/B30-153[»]
5FEBX-ray1.35A30-151[»]
6J8Eelectron microscopy3.00C27-148[»]
6J8Gelectron microscopy3.20C1-215[»]
6J8Helectron microscopy3.20C1-215[»]
6J8Ielectron microscopy3.20C1-215[»]
6J8Jelectron microscopy3.20C1-215[»]
SMRiO60939
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112232, 87 interactors
CORUMiO60939
IntActiO60939, 58 interactors
STRINGi9606.ENSP00000278947

Chemistry databases

DrugBankiDB05541, Brivaracetam
DB00907, Cocaine
DB13269, Dichlorobenzyl alcohol
DB13961, Fish oil
DB00776, Oxcarbazepine
DB00243, Ranolazine
DB00313, Valproic acid
DB00909, Zonisamide
DrugCentraliO60939

Protein family/group databases

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

PTM databases

GlyGeniO60939, 3 sites
iPTMnetiO60939
PhosphoSitePlusiO60939

Polymorphism and mutation databases

BioMutaiSCN2B

Proteomic databases

MassIVEiO60939
PaxDbiO60939
PeptideAtlasiO60939
PRIDEiO60939
ProteomicsDBi49682

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
2511, 288 antibodies

The DNASU plasmid repository

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DNASUi
6327

Genome annotation databases

EnsembliENST00000278947; ENSP00000278947; ENSG00000149575
GeneIDi6327
KEGGihsa:6327

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6327
DisGeNETi6327
EuPathDBiHostDB:ENSG00000149575.5

GeneCards: human genes, protein and diseases

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GeneCardsi
SCN2B
GeneReviewsiSCN2B
HGNCiHGNC:10589, SCN2B
HPAiENSG00000149575, Group enriched (brain, heart muscle, skeletal muscle)
MalaCardsiSCN2B
MIMi601327, gene
615378, phenotype
neXtProtiNX_O60939
OpenTargetsiENSG00000149575
Orphaneti130, Brugada syndrome
334, Familial atrial fibrillation
PharmGKBiPA303

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502R29H, Eukaryota
GeneTreeiENSGT01000000214451
HOGENOMiCLU_090350_0_0_1
InParanoidiO60939
KOiK04846
OMAiTNPPDRH
OrthoDBi1380581at2759
PhylomeDBiO60939
TreeFamiTF331728

Enzyme and pathway databases

PathwayCommonsiO60939
ReactomeiR-HSA-445095, Interaction between L1 and Ankyrins
R-HSA-5576892, Phase 0 - rapid depolarisation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
6327, 3 hits in 872 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SCN2B, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SCN2B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6327
PharosiO60939, Tbio

Protein Ontology

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PROi
PR:O60939
RNActiO60939, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000149575, Expressed in caudate nucleus and 164 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSCN2B_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60939
Secondary accession number(s): O75302, Q9UNN3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: August 1, 1998
Last modified: August 12, 2020
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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