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UniProtKB - Q9Y6J6 (KCNE2_HUMAN)

Entry version 171 (11 Dec 2019)
Sequence version 1 (01 Nov 1999)
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Protein

Potassium voltage-gated channel subfamily E member 2

Gene

KCNE2

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

Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with HCN1 and HCN2 and increase potassium current. Interacts with KCNQ1; forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505).By similarity2 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5576890 Phase 3 - rapid repolarisation
R-HSA-5576893 Phase 2 - plateau phase

<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_and_taxonomy_section">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:
Potassium voltage-gated channel subfamily E member 2
Alternative name(s):
MinK-related peptide 1
Minimum potassium ion channel-related peptide 1
Potassium channel subunit beta MiRP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:KCNE2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 21

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000159197.3

Human Gene Nomenclature Database

More...HGNCi		HGNC:6242 KCNE2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603796 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y6J6

<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_location_section">'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>Transmembranei49 – 69HelicalSequence analysisAdd BLAST21
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 domaini70 – 123CytoplasmicSequence analysisAdd BLAST54

Keywords - Cellular componenti

Cell membrane, 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

Long QT syndrome 6 (LQT6)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
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_07492114V → I in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142153692EnsemblClinVar.1
Natural variantiVAR_07492220I → N in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473363EnsemblClinVar.1
Natural variantiVAR_07492327R → H in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148968498EnsemblClinVar.1
Natural variantiVAR_00837754M → T in LQT6; forms I(KR) channels that deactivate twice as fast as wild type. 2 PublicationsCorresponds to variant dbSNP:rs74315447EnsemblClinVar.1
Natural variantiVAR_00837857I → T in LQT6; may affect KCNQ1/KCNE2 channel. 3 PublicationsCorresponds to variant dbSNP:rs74315448EnsemblClinVar.1
Natural variantiVAR_02933460F → L in LQT6; may be a rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs16991654EnsemblClinVar.1
Natural variantiVAR_07492465V → L in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar.1
Natural variantiVAR_01506365V → M in LQT6. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar.1
Natural variantiVAR_07492577R → Q in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473365EnsemblClinVar.1
Natural variantiVAR_03538677R → W in LQT6. 1 PublicationCorresponds to variant dbSNP:rs141423405EnsemblClinVar.1
Natural variantiVAR_07492694E → G in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74424227EnsemblClinVar.1
Atrial fibrillation, familial, 4 (ATFB4)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
Natural variantiVAR_03779527R → C in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF. 1 PublicationCorresponds to variant dbSNP:rs74315449EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi75K → H: Increases tail current in KCNH2/KCNE2 channel. 1 Publication1

Keywords - Diseasei

Atrial fibrillation, Disease mutation, Long QT syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		9992

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

More...GeneReviewsi		KCNE2

MalaCards human disease database

More...MalaCardsi		KCNE2
MIMi611493 phenotype
613693 phenotype

Open Targets

More...OpenTargetsi		ENSG00000159197

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

More...Orphaneti		334 Familial atrial fibrillation
101016 Romano-Ward syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA392

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y6J6 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KCNE2

Domain mapping of disease mutations (DMDM)

More...DMDMi		6685661

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001442851 – 123Potassium voltage-gated channel subfamily E member 2Add BLAST123

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi6N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi29N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

More...PaxDbi		Q9Y6J6

PeptideAtlas

More...PeptideAtlasi		Q9Y6J6

PRoteomics IDEntifications database

More...PRIDEi		Q9Y6J6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86701

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y6J6

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

More...PhosphoSitePlusi		Q9Y6J6

<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

Highly expressed in brain, heart, skeletal muscle, pancreas, placenta, kidney, colon and thymus. A small but significant expression is found in liver, ovary, testis, prostate, small intestine and leukocytes. Very low expression, nearly undetectable, in lung and spleen.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000159197 Expressed in 90 organ(s), highest expression level in body of stomach

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y6J6 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA029706
HPA051553

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with KCNB1 (By similarity). Associates with KCNH2/ERG1 (PubMed:10219239). May associate with KCNQ2 and KCNQ3 (PubMed:11034315,). Associates with HCN1 and probably HCN2. Heteromultimer with KCNC2.

Interacts with KCNC2 (By similarity).

Interacts with KCNQ1; forms a heterooligomer complex that targets to the membrane raft and leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505, PubMed:20533308).

By similarity4 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		115313, 3 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3073 Voltage-gated potassium channel complex variant 2

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9Y6J6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000290310

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y6J6 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

1123
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		Q9Y6J6

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

<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

Belongs to the potassium channel KCNE family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IX4Y Eukaryota
ENOG411297Y LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154497

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000113208

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y6J6

KEGG Orthology (KO)

More...KOi		K04896

Identification of Orthologs from Complete Genome Data

More...OMAi		VTYMDNW

Database of Orthologous Groups

More...OrthoDBi		953529at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y6J6

TreeFam database of animal gene trees

More...TreeFami		TF336058

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000369 K_chnl_KCNE
IPR005425 K_chnl_volt-dep_bsu_KCNE2

The PANTHER Classification System

More...PANTHERi		PTHR15282 PTHR15282, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02060 ISK_Channel, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01605 KCNE2CHANNEL

<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_length">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>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

Q9Y6J6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSTLSNFTQT LEDVFRRIFI TYMDNWRQNT TAEQEALQAK VDAENFYYVI 
        60         70         80         90        100
LYLMVMIGMF SFIIVAILVS TVKSKRREHS NDPYHQYIVE DWQEKYKSQI 
       110        120 
LNLEESKATI HENIGAAGFK MSP
Length:123
Mass (Da):14,472
Last modified:November 1, 1999 - 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:iC3016415E1B44890
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0083758T → A2 PublicationsCorresponds to variant dbSNP:rs2234916EnsemblClinVar.1
Natural variantiVAR_0377948T → I. Corresponds to variant dbSNP:rs35759083Ensembl.1
Natural variantiVAR_0083769Q → E Polymorphism; risk factor for drug-induced arrhythmia; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel. 1 PublicationCorresponds to variant dbSNP:rs16991652EnsemblClinVar.1
Natural variantiVAR_07492114V → I in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142153692EnsemblClinVar.1
Natural variantiVAR_07492220I → N in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473363EnsemblClinVar.1
Natural variantiVAR_03779527R → C in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF. 1 PublicationCorresponds to variant dbSNP:rs74315449EnsemblClinVar.1
Natural variantiVAR_07492327R → H in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148968498EnsemblClinVar.1
Natural variantiVAR_00837754M → T in LQT6; forms I(KR) channels that deactivate twice as fast as wild type. 2 PublicationsCorresponds to variant dbSNP:rs74315447EnsemblClinVar.1
Natural variantiVAR_00837857I → T in LQT6; may affect KCNQ1/KCNE2 channel. 3 PublicationsCorresponds to variant dbSNP:rs74315448EnsemblClinVar.1
Natural variantiVAR_02933460F → L in LQT6; may be a rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs16991654EnsemblClinVar.1
Natural variantiVAR_07492465V → L in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar.1
Natural variantiVAR_01506365V → M in LQT6. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar.1
Natural variantiVAR_02205266A → V. Corresponds to variant dbSNP:rs16991656EnsemblClinVar.1
Natural variantiVAR_07492577R → Q in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473365EnsemblClinVar.1
Natural variantiVAR_03538677R → W in LQT6. 1 PublicationCorresponds to variant dbSNP:rs141423405EnsemblClinVar.1
Natural variantiVAR_07492694E → G in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74424227EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF071002 mRNA Translation: AAD28086.1
AF302095 mRNA Translation: AAG13416.1
DQ784804 Genomic DNA Translation: ABQ01239.1
CH471079 Genomic DNA Translation: EAX09791.1
BC093892 mRNA Translation: AAH93892.1
BC112087 mRNA Translation: AAI12088.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13635.1

NCBI Reference Sequences

More...RefSeqi		NP_751951.1, NM_172201.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000290310; ENSP00000290310; ENSG00000159197

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9992

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9992

UCSC genome browser

More...UCSCi		uc002ytt.2 human

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
AF071002 mRNA Translation: AAD28086.1
AF302095 mRNA Translation: AAG13416.1
DQ784804 Genomic DNA Translation: ABQ01239.1
CH471079 Genomic DNA Translation: EAX09791.1
BC093892 mRNA Translation: AAH93892.1
BC112087 mRNA Translation: AAI12088.1
CCDSiCCDS13635.1
RefSeqiNP_751951.1, NM_172201.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M0QNMR-A1-123[»]
SMRiQ9Y6J6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi115313, 3 interactors
ComplexPortaliCPX-3073 Voltage-gated potassium channel complex variant 2
CORUMiQ9Y6J6
STRINGi9606.ENSP00000290310

PTM databases

iPTMnetiQ9Y6J6
PhosphoSitePlusiQ9Y6J6

Polymorphism and mutation databases

BioMutaiKCNE2
DMDMi6685661

Proteomic databases

PaxDbiQ9Y6J6
PeptideAtlasiQ9Y6J6
PRIDEiQ9Y6J6
ProteomicsDBi86701

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		9992

Genome annotation databases

EnsembliENST00000290310; ENSP00000290310; ENSG00000159197
GeneIDi9992
KEGGihsa:9992
UCSCiuc002ytt.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9992
DisGeNETi9992
EuPathDBiHostDB:ENSG00000159197.3

GeneCards: human genes, protein and diseases

More...GeneCardsi		KCNE2
GeneReviewsiKCNE2
HGNCiHGNC:6242 KCNE2
HPAiHPA029706
HPA051553
MalaCardsiKCNE2
MIMi603796 gene
611493 phenotype
613693 phenotype
neXtProtiNX_Q9Y6J6
OpenTargetsiENSG00000159197
Orphaneti334 Familial atrial fibrillation
101016 Romano-Ward syndrome
PharmGKBiPA392

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IX4Y Eukaryota
ENOG411297Y LUCA
GeneTreeiENSGT00940000154497
HOGENOMiHOG000113208
InParanoidiQ9Y6J6
KOiK04896
OMAiVTYMDNW
OrthoDBi953529at2759
PhylomeDBiQ9Y6J6
TreeFamiTF336058

Enzyme and pathway databases

ReactomeiR-HSA-5576890 Phase 3 - rapid repolarisation
R-HSA-5576893 Phase 2 - plateau phase

Miscellaneous databases

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

More...ChiTaRSi		KCNE2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KCNE2

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

More...GenomeRNAii		9992
PharosiQ9Y6J6 Tbio

Protein Ontology

More...PROi		PR:Q9Y6J6
RNActiQ9Y6J6 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000159197 Expressed in 90 organ(s), highest expression level in body of stomach
GenevisibleiQ9Y6J6 HS

Family and domain databases

InterProiView protein in InterPro
IPR000369 K_chnl_KCNE
IPR005425 K_chnl_volt-dep_bsu_KCNE2
PANTHERiPTHR15282 PTHR15282, 1 hit
PfamiView protein in Pfam
PF02060 ISK_Channel, 1 hit
PRINTSiPR01605 KCNE2CHANNEL

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiKCNE2_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: Q9Y6J6
Secondary accession number(s): A5H1P3, D3DSF8, Q52LJ5
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: December 11, 2019
This is version 171 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
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