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UniProtKB - P63252 (KCNJ2_HUMAN)

Entry version 164 (07 Oct 2020)
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

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P63252

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%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:
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%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:KCNJ2
Synonyms:IRK1
<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 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%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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000123700.4

Human Gene Nomenclature Database

More...HGNCi		HGNC:6263, KCNJ2

Online Mendelian Inheritance in Man (OMIM)

More...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%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 domaini2 – 81CytoplasmicBy similarityAdd BLAST80
<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>Transmembranei82 – 106Helical; Name=M1By similarityAdd BLAST25
Topological domaini107 – 128ExtracellularBy similarityAdd BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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.

More...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

More...PharmGKBi		PA214

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P63252, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1914276

Drug and drug target database

More...DrugBanki		DB01136, Carvedilol
DB04855, Dronedarone
DB00243, Ranolazine

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%5Fprocessing%5Fsection">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 or proteolytic cleavage.<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%5Fprocessing%5Fsection">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%5Fprocessing%5Fsection">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

More...jPOSTi		P63252

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P63252

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

More...PaxDbi		P63252

PeptideAtlas

More...PeptideAtlasi		P63252

PRoteomics IDEntifications database

More...PRIDEi		P63252

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		57513

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...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 globus pallidus and 226 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P63252, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000123700, Tissue enhanced (brain, parathyroid gland)

<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

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109961, 29 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3071, Inward rectifier potassium channel 2 complex

Protein interaction database and analysis system

More...IntActi		P63252, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000243457

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P63252

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P63252, 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

1427
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		P63252

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

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

Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3827, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01000000214471

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_022738_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P63252

KEGG Orthology (KO)

More...KOi		K04996

Identification of Orthologs from Complete Genome Data

More...OMAi		KVHTRHQ

Database of Orthologous Groups

More...OrthoDBi		956263at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P63252

TreeFam database of animal gene trees

More...TreeFami		TF313676

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.1400, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

More...PANTHERi		PTHR11767, PTHR11767, 1 hit
PTHR11767:SF43, PTHR11767:SF43, 1 hit

Pfam protein domain database

More...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

More...PIRSFi		PIRSF005465, GIRK_kir, 1 hit

Protein Motif fingerprint database; a protein domain database

More...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%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>Sequencei

<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.

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

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
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

More...CCDSi		CCDS11688.1

Protein sequence database of the Protein Information Resource

More...PIRi		I38727

NCBI Reference Sequences

More...RefSeqi		NP_000882.1, NM_000891.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000243457; ENSP00000243457; ENSG00000123700
ENST00000535240; ENSP00000441848; ENSG00000123700

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3759

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3759

UCSC genome browser

More...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

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
6SPZX-ray2.08P/Q422-427[»]
SMRiP63252
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109961, 29 interactors
ComplexPortaliCPX-3071, Inward rectifier potassium channel 2 complex
IntActiP63252, 10 interactors
STRINGi9606.ENSP00000243457

Chemistry databases

BindingDBiP63252
ChEMBLiCHEMBL1914276
DrugBankiDB01136, Carvedilol
DB04855, Dronedarone
DB00243, Ranolazine

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

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31891, 299 antibodies

The DNASU plasmid repository

More...DNASUi		3759

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3759
DisGeNETi3759
EuPathDBiHostDB:ENSG00000123700.4

GeneCards: human genes, protein and diseases

More...GeneCardsi		KCNJ2
GeneReviewsiKCNJ2
HGNCiHGNC:6263, KCNJ2
HPAiENSG00000123700, Tissue enhanced (brain, parathyroid gland)
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

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3827, Eukaryota
GeneTreeiENSGT01000000214471
HOGENOMiCLU_022738_3_0_1
InParanoidiP63252
KOiK04996
OMAiKVHTRHQ
OrthoDBi956263at2759
PhylomeDBiP63252
TreeFamiTF313676

Enzyme and pathway databases

PathwayCommonsiP63252
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

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3759, 1 hit in 864 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Kir2.1

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

More...GenomeRNAii		3759
PharosiP63252, Tchem

Protein Ontology

More...PROi		PR:P63252
RNActiP63252, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000123700, Expressed in globus pallidus and 226 other tissues
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

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 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%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: October 11, 2004
Last sequence update: October 11, 2004
Last modified: October 7, 2020
This is version 164 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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