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Entry version 157 (16 Oct 2019)
Sequence version 1 (11 Oct 2004)
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Protein

Inward rectifier potassium channel 2

Gene

KCNJ2

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

Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium.

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>Sitei172Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity1

<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, 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-1296041 Activation of G protein gated Potassium channels
R-HSA-1296053 Classical Kir channels
R-HSA-5576886 Phase 4 - resting membrane potential
R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.2.1.2 the inward rectifier k(+) channel (irk-c) 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_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:
Inward rectifier potassium channel 2
Alternative name(s):
Cardiac inward rectifier potassium channel
Inward rectifier K(+) channel Kir2.1
Short name:
IRK-1
Short name:
hIRK1
Potassium channel, inwardly rectifying subfamily J member 2
<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:KCNJ2
Synonyms:IRK1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6263 KCNJ2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600681 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P63252

<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 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 domaini2 – 81CytoplasmicBy similarityAdd BLAST80
<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>Transmembranei82 – 106Helical; Name=M1By similarityAdd BLAST25
Topological domaini107 – 128ExtracellularBy similarityAdd BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei129 – 140Helical; Pore-forming; Name=H5By similarityAdd BLAST12
Intramembranei141 – 147Pore-formingBy similarity7
Topological domaini148 – 156ExtracellularBy similarity9
Transmembranei157 – 178Helical; Name=M2By similarityAdd BLAST22
Topological domaini179 – 427CytoplasmicBy similarityAdd BLAST249

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

Long QT syndrome 7 (LQT7)5 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. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features.
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_06586154C → F in LQT7; there is loss of function when the mutant is expressed alone and a dominant-negative effect when expressed with wild-type channels; channel trafficking and assembly are not affected. 1 PublicationCorresponds to variant dbSNP:rs199473650EnsemblClinVar.1
Natural variantiVAR_01785167R → W in LQT7. 1 PublicationCorresponds to variant dbSNP:rs104894580EnsemblClinVar.1
Natural variantiVAR_01785271D → V in LQT7; loss of function mutation acting in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs104894575EnsemblClinVar.1
Natural variantiVAR_06586275T → R in LQT7; loss of function mutation acting in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs104894585EnsemblClinVar.1
Natural variantiVAR_01785395 – 98Missing in LQT7. 1 Publication4
Natural variantiVAR_017854186P → L in LQT7. 1 PublicationCorresponds to variant dbSNP:rs104894581EnsemblClinVar.1
Natural variantiVAR_017855216N → H in LQT7. 1 PublicationCorresponds to variant dbSNP:rs104894583EnsemblClinVar.1
Natural variantiVAR_017856218R → W in LQT7; loss of function and dominant-negative effect in current. 1 PublicationCorresponds to variant dbSNP:rs104894578EnsemblClinVar.1
Natural variantiVAR_017857300G → V in LQT7. 1 PublicationCorresponds to variant dbSNP:rs104894579EnsemblClinVar.1
Natural variantiVAR_017858302V → M in LQT7. 1 PublicationCorresponds to variant dbSNP:rs104894582EnsemblClinVar.1
Natural variantiVAR_065864305T → P in LQT7; there is loss of function when the mutant is expressed alone and a dominant-negative effect when expressed with wild-type channels; channel trafficking and assembly are not affected. 1 PublicationCorresponds to variant dbSNP:rs199473387EnsemblClinVar.1
Natural variantiVAR_017859314 – 315Missing in LQT7. 2
Short QT syndrome 3 (SQT3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023842172D → N in SQT3; gain of function. 1 PublicationCorresponds to variant dbSNP:rs104894584EnsemblClinVar.1
Atrial fibrillation, familial, 9 (ATFB9)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_06586393V → I in ATFB9; has a gain-of-function effect on the channels. 1 PublicationCorresponds to variant dbSNP:rs147750704EnsemblClinVar.1

Keywords - Diseasei

Atrial fibrillation, Disease mutation, Long QT syndrome, Short QT syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
3759

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

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GeneReviewsi
KCNJ2

MalaCards human disease database

More...
MalaCardsi
KCNJ2
MIMi170390 phenotype
609622 phenotype
613980 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000123700

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

More...
Orphaneti
37553 Andersen-Tawil syndrome
334 Familial atrial fibrillation
51083 Familial short QT syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA214

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P63252

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1914276

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KCNJ2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
54037433

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00001549232 – 427Inward rectifier potassium channel 2Add BLAST426

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(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine1 Publication1
<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 residuei76S-nitrosocysteine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

S-nitrosylation increases the open probability and inward rectifying currents.1 Publication

Keywords - PTMi

Lipoprotein, Myristate, S-nitrosylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P63252

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P63252

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

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PaxDbi
P63252

PeptideAtlas

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PeptideAtlasi
P63252

PRoteomics IDEntifications database

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PRIDEi
P63252

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
57513

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P63252

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

More...
PhosphoSitePlusi
P63252

<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

Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000123700 Expressed in 210 organ(s), highest expression level in globus pallidus

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P63252 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA029109

<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

Homomultimeric and heteromultimeric association with KCNJ4/Kir2.3. Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking (By similarity).

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109961, 23 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-3071 Inward rectifier potassium channel 2 complex

Protein interaction database and analysis system

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IntActi
P63252, 9 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000243457

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P63252

<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

3D structure databases

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

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SMRi
P63252

Database of comparative protein structure models

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ModBasei
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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi142 – 147Selectivity filterBy similarity6
Motifi425 – 427PDZ-bindingSequence analysis3

<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

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3827 Eukaryota
ENOG410XQ62 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00960000186595

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000237325

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P63252

KEGG Orthology (KO)

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KOi
K04996

Identification of Orthologs from Complete Genome Data

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OMAi
KVHTRHQ

Database of Orthologous Groups

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OrthoDBi
953529at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P63252

TreeFam database of animal gene trees

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TreeFami
TF313676

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.1400, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR014756 Ig_E-set
IPR041647 IRK_C
IPR016449 K_chnl_inward-rec_Kir
IPR003271 K_chnl_inward-rec_Kir2.1
IPR013518 K_chnl_inward-rec_Kir_cyto
IPR013673 K_chnl_inward-rec_Kir_N
IPR040445 Kir_TM

The PANTHER Classification System

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PANTHERi
PTHR11767 PTHR11767, 1 hit
PTHR11767:SF43 PTHR11767:SF43, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01007 IRK, 1 hit
PF17655 IRK_C, 1 hit
PF08466 IRK_N, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF005465 GIRK_kir, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01324 KIR21CHANNEL
PR01320 KIRCHANNEL

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF81296 SSF81296, 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_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.

<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 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.

P63252-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGSVRTNRYS IVSSEEDGMK LATMAVANGF GNGKSKVHTR QQCRSRFVKK
60 70 80 90 100
DGHCNVQFIN VGEKGQRYLA DIFTTCVDIR WRWMLVIFCL AFVLSWLFFG
110 120 130 140 150
CVFWLIALLH GDLDASKEGK ACVSEVNSFT AAFLFSIETQ TTIGYGFRCV
160 170 180 190 200
TDECPIAVFM VVFQSIVGCI IDAFIIGAVM AKMAKPKKRN ETLVFSHNAV
210 220 230 240 250
IAMRDGKLCL MWRVGNLRKS HLVEAHVRAQ LLKSRITSEG EYIPLDQIDI
260 270 280 290 300
NVGFDSGIDR IFLVSPITIV HEIDEDSPLY DLSKQDIDNA DFEIVVILEG
310 320 330 340 350
MVEATAMTTQ CRSSYLANEI LWGHRYEPVL FEEKHYYKVD YSRFHKTYEV
360 370 380 390 400
PNTPLCSARD LAEKKYILSN ANSFCYENEV ALTSKEEDDS ENGVPESTST
410 420
DTPPDIDLHN QASVPLEPRP LRRESEI
Length:427
Mass (Da):48,288
Last modified:October 11, 2004 - 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:iAB37CAD4B99B4050
GO

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 conflicti330L → F in AAC39555 (PubMed:9490857).Curated1
Sequence conflicti340D → E in AAC39555 (PubMed:9490857).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06586154C → F in LQT7; there is loss of function when the mutant is expressed alone and a dominant-negative effect when expressed with wild-type channels; channel trafficking and assembly are not affected. 1 PublicationCorresponds to variant dbSNP:rs199473650EnsemblClinVar.1
Natural variantiVAR_01785167R → W in LQT7. 1 PublicationCorresponds to variant dbSNP:rs104894580EnsemblClinVar.1
Natural variantiVAR_01785271D → V in LQT7; loss of function mutation acting in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs104894575EnsemblClinVar.1
Natural variantiVAR_06586275T → R in LQT7; loss of function mutation acting in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs104894585EnsemblClinVar.1
Natural variantiVAR_06586393V → I in ATFB9; has a gain-of-function effect on the channels. 1 PublicationCorresponds to variant dbSNP:rs147750704EnsemblClinVar.1
Natural variantiVAR_01785395 – 98Missing in LQT7. 1 Publication4
Natural variantiVAR_023842172D → N in SQT3; gain of function. 1 PublicationCorresponds to variant dbSNP:rs104894584EnsemblClinVar.1
Natural variantiVAR_017854186P → L in LQT7. 1 PublicationCorresponds to variant dbSNP:rs104894581EnsemblClinVar.1
Natural variantiVAR_017855216N → H in LQT7. 1 PublicationCorresponds to variant dbSNP:rs104894583EnsemblClinVar.1
Natural variantiVAR_017856218R → W in LQT7; loss of function and dominant-negative effect in current. 1 PublicationCorresponds to variant dbSNP:rs104894578EnsemblClinVar.1
Natural variantiVAR_017857300G → V in LQT7. 1 PublicationCorresponds to variant dbSNP:rs104894579EnsemblClinVar.1
Natural variantiVAR_017858302V → M in LQT7. 1 PublicationCorresponds to variant dbSNP:rs104894582EnsemblClinVar.1
Natural variantiVAR_065864305T → P in LQT7; there is loss of function when the mutant is expressed alone and a dominant-negative effect when expressed with wild-type channels; channel trafficking and assembly are not affected. 1 PublicationCorresponds to variant dbSNP:rs199473387EnsemblClinVar.1
Natural variantiVAR_017859314 – 315Missing in LQT7. 2

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U24055 mRNA Translation: AAB50277.1
U12507 mRNA Translation: AAC50072.1
U16861 mRNA Translation: AAA91781.1
AF153819 Genomic DNA Translation: AAF73242.1
AF153820 mRNA Translation: AAF73241.1
U22413 mRNA Translation: AAA64282.1
AF011904 mRNA Translation: AAC39555.1
AF021139 mRNA Translation: AAB88797.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11688.1

Protein sequence database of the Protein Information Resource

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PIRi
I38727

NCBI Reference Sequences

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RefSeqi
NP_000882.1, NM_000891.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000243457; ENSP00000243457; ENSG00000123700
ENST00000535240; ENSP00000441848; ENSG00000123700

Database of genes from NCBI RefSeq genomes

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GeneIDi
3759

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3759

UCSC genome browser

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UCSCi
uc002jir.4 human

<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
U24055 mRNA Translation: AAB50277.1
U12507 mRNA Translation: AAC50072.1
U16861 mRNA Translation: AAA91781.1
AF153819 Genomic DNA Translation: AAF73242.1
AF153820 mRNA Translation: AAF73241.1
U22413 mRNA Translation: AAA64282.1
AF011904 mRNA Translation: AAC39555.1
AF021139 mRNA Translation: AAB88797.1
CCDSiCCDS11688.1
PIRiI38727
RefSeqiNP_000882.1, NM_000891.2

3D structure databases

SMRiP63252
ModBaseiSearch...

Protein-protein interaction databases

BioGridi109961, 23 interactors
ComplexPortaliCPX-3071 Inward rectifier potassium channel 2 complex
IntActiP63252, 9 interactors
STRINGi9606.ENSP00000243457

Chemistry databases

BindingDBiP63252
ChEMBLiCHEMBL1914276

Protein family/group databases

TCDBi1.A.2.1.2 the inward rectifier k(+) channel (irk-c) family

PTM databases

iPTMnetiP63252
PhosphoSitePlusiP63252

Polymorphism and mutation databases

BioMutaiKCNJ2
DMDMi54037433

Proteomic databases

jPOSTiP63252
MassIVEiP63252
PaxDbiP63252
PeptideAtlasiP63252
PRIDEiP63252
ProteomicsDBi57513

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
3759

Genome annotation databases

EnsembliENST00000243457; ENSP00000243457; ENSG00000123700
ENST00000535240; ENSP00000441848; ENSG00000123700
GeneIDi3759
KEGGihsa:3759
UCSCiuc002jir.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3759
DisGeNETi3759

GeneCards: human genes, protein and diseases

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GeneCardsi
KCNJ2
GeneReviewsiKCNJ2
HGNCiHGNC:6263 KCNJ2
HPAiHPA029109
MalaCardsiKCNJ2
MIMi170390 phenotype
600681 gene
609622 phenotype
613980 phenotype
neXtProtiNX_P63252
OpenTargetsiENSG00000123700
Orphaneti37553 Andersen-Tawil syndrome
334 Familial atrial fibrillation
51083 Familial short QT syndrome
PharmGKBiPA214

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3827 Eukaryota
ENOG410XQ62 LUCA
GeneTreeiENSGT00960000186595
HOGENOMiHOG000237325
InParanoidiP63252
KOiK04996
OMAiKVHTRHQ
OrthoDBi953529at2759
PhylomeDBiP63252
TreeFamiTF313676

Enzyme and pathway databases

ReactomeiR-HSA-1296041 Activation of G protein gated Potassium channels
R-HSA-1296053 Classical Kir channels
R-HSA-5576886 Phase 4 - resting membrane potential
R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Kir2.1

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

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GenomeRNAii
3759
PharosiP63252

Protein Ontology

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PROi
PR:P63252

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000123700 Expressed in 210 organ(s), highest expression level in globus pallidus
GenevisibleiP63252 HS

Family and domain databases

Gene3Di2.60.40.1400, 1 hit
InterProiView protein in InterPro
IPR014756 Ig_E-set
IPR041647 IRK_C
IPR016449 K_chnl_inward-rec_Kir
IPR003271 K_chnl_inward-rec_Kir2.1
IPR013518 K_chnl_inward-rec_Kir_cyto
IPR013673 K_chnl_inward-rec_Kir_N
IPR040445 Kir_TM
PANTHERiPTHR11767 PTHR11767, 1 hit
PTHR11767:SF43 PTHR11767:SF43, 1 hit
PfamiView protein in Pfam
PF01007 IRK, 1 hit
PF17655 IRK_C, 1 hit
PF08466 IRK_N, 1 hit
PIRSFiPIRSF005465 GIRK_kir, 1 hit
PRINTSiPR01324 KIR21CHANNEL
PR01320 KIRCHANNEL
SUPFAMiSSF81296 SSF81296, 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 nameiKCNJ2_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: P63252
Secondary accession number(s): O15110, P48049
<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: October 11, 2004
Last sequence update: October 11, 2004
Last modified: October 16, 2019
This is version 157 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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