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Aliases for KCNJ2 Gene

Aliases for KCNJ2 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 2 2 3 5
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 2 2 3
  • Cardiac Inward Rectifier Potassium Channel 3 4
  • HIRK1 3 4
  • IRK-1 3 4
  • IRK1 3 4
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 2 4
  • Inward Rectifier Potassium Channel 2 3
  • Inward Rectifier K(+) Channel Kir2.1 4
  • Inward Rectifier K+ Channel KIR2.1 3
  • HHBIRK1 3
  • HHIRK1 3
  • KIR2.1 3
  • ATFB9 3
  • LQT7 3
  • SQT3 3

External Ids for KCNJ2 Gene

Previous GeneCards Identifiers for KCNJ2 Gene

  • GC17P067921
  • GC17P071125
  • GC17P068630
  • GC17P068762
  • GC17P065677
  • GC17P068165
  • GC17P063552

Summaries for KCNJ2 Gene

Entrez Gene Summary for KCNJ2 Gene

  • Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNJ2 Gene

KCNJ2 (Potassium Voltage-Gated Channel Subfamily J Member 2) is a Protein Coding gene. Diseases associated with KCNJ2 include Andersen Syndrome and Short Qt Syndrome 3. Among its related pathways are Transmission across Chemical Synapses and Cardiac conduction. GO annotations related to this gene include identical protein binding and inward rectifier potassium channel activity. An important paralog of this gene is KCNJ12.

UniProtKB/Swiss-Prot for KCNJ2 Gene

  • 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.

Tocris Summary for KCNJ2 Gene

  • The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (Kir2.x), the G-protein-activated inward-rectifier channels (Kir3.x) and the ATP-sensitive channels (Kir6.x), which combine with sulphonylurea receptors.

Gene Wiki entry for KCNJ2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ2 Gene

Genomics for KCNJ2 Gene

Regulatory Elements for KCNJ2 Gene

Enhancers for KCNJ2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F070288 1.2 FANTOM5 Ensembl 28.5 +120.6 120616 1.5 ATF3 CEBPB KCNJ2 GC17P070294 GC17P070276
GH17F070286 0.5 FANTOM5 27.1 +117.9 117911 0.6 ZNF580 ZBTB33 KCNJ2 GC17P070276 GC17P070294
GH17F070295 0.9 FANTOM5 Ensembl 26.3 +126.8 126814 0.9 HDGF CREB3L1 SIN3A FEZF1 ZNF2 YY1 ZNF207 SP3 SP5 JUNB KCNJ2 CASC17 SNRPGP4 GC17P070294 GC17M070291
GH17F070266 0.7 FANTOM5 26.1 +98.0 97967 0.3 KCNJ2 GC17P070276 CALM2P1
GH17F070313 1.5 FANTOM5 Ensembl ENCODE 23.7 +145.4 145438 2.0 KLF1 JUN KLF17 RARA CTBP1 PRDM10 FOS FOSL2 CREM JUNB KCNJ2 GC17M070291 GC17P070324
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KCNJ2 on UCSC Golden Path with GeneCards custom track

Promoters for KCNJ2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001352267 1484 4601 ZNF133 SIN3A RAD21 ZNF121 GLIS2 ZNF366 SCRT2 ZNF391 EGR2 ZNF654

Genomic Location for KCNJ2 Gene

Chromosome:
17
Start:
70,168,616 bp from pter
End:
70,180,048 bp from pter
Size:
11,433 bases
Orientation:
Plus strand

Genomic View for KCNJ2 Gene

Genes around KCNJ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ2 Gene

Proteins for KCNJ2 Gene

  • Protein details for KCNJ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P63252-KCNJ2_HUMAN
    Recommended name:
    Inward rectifier potassium channel 2
    Protein Accession:
    P63252
    Secondary Accessions:
    • O15110
    • P48049

    Protein attributes for KCNJ2 Gene

    Size:
    427 amino acids
    Molecular mass:
    48288 Da
    Quaternary structure:
    • 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).

neXtProt entry for KCNJ2 Gene

Post-translational modifications for KCNJ2 Gene

  • S-nitrosylation increases the open probability and inward rectifying currents.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ2 Gene

Domains & Families for KCNJ2 Gene

Gene Families for KCNJ2 Gene

Suggested Antigen Peptide Sequences for KCNJ2 Gene

Graphical View of Domain Structure for InterPro Entry

P63252

UniProtKB/Swiss-Prot:

KCNJ2_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily.
genes like me logo Genes that share domains with KCNJ2: view

Function for KCNJ2 Gene

Molecular function for KCNJ2 Gene

GENATLAS Biochemistry:
potassium non voltage-gated,inwardly rectifying subfamily member,ATP regulated,expressed in heart,brain,mouse mIRK1 homolog
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for KCNJ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity IDA 11371347
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 12086641
GO:0015467 G-protein activated inward rectifier potassium channel activity TAS --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with KCNJ2: view
genes like me logo Genes that share phenotypes with KCNJ2: view

Human Phenotype Ontology for KCNJ2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNJ2 Gene

MGI Knock Outs for KCNJ2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNJ2 Gene

Localization for KCNJ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ2 Gene

Membrane; Multi-pass membrane protein. Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNJ2 Gene COMPARTMENTS Subcellular localization image for KCNJ2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
golgi apparatus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for KCNJ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005790 smooth endoplasmic reticulum IEA --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7696590
genes like me logo Genes that share ontologies with KCNJ2: view

Pathways & Interactions for KCNJ2 Gene

genes like me logo Genes that share pathways with KCNJ2: view

Gene Ontology (GO) - Biological Process for KCNJ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IDA 20921230
GO:0010107 potassium ion import IDA 11371347
GO:0014861 regulation of skeletal muscle contraction via regulation of action potential IMP 11371347
genes like me logo Genes that share ontologies with KCNJ2: view

No data available for SIGNOR curated interactions for KCNJ2 Gene

Drugs & Compounds for KCNJ2 Gene

(17) Drugs for KCNJ2 Gene - From: ApexBio, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved Pharma 0
Glyburide Approved Pharma Channel blocker Kir6 (KATP) channel blocker 111
Nicorandil Approved Pharma Activator Potassium channel activator, Kir6 (KATP) channel opener and NO donor 17
Cesium chloride Pharma Potassium channel blocker 0
ML133 HCl Pharma Potassium channel inhibitor for Kir2.1 0

(5) Additional Compounds for KCNJ2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for KCNJ2 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker 10238-21-8
Levcromakalim Kir6 (KATP) channel opener; active enantiomer of cromakalim (Cat. No. 1377) 94535-50-9
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
Tertiapin-Q Selective blocker of inward-rectifier K+ channels 252198-49-5
Y-26763 Kir6 (KATP) channel opener 127408-31-5

(2) ApexBio Compounds for KCNJ2 Gene

Compound Action Cas Number
Cesium chloride Potassium channel blocker 7647-17-8
ML133 HCl Potassium channel inhibitor for Kir2.1 1222781-70-5
genes like me logo Genes that share compounds with KCNJ2: view

Transcripts for KCNJ2 Gene

mRNA/cDNA for KCNJ2 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(50) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNJ2 Gene

Potassium inwardly-rectifying channel, subfamily J, member 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ2 Gene

No ASD Table

Relevant External Links for KCNJ2 Gene

GeneLoc Exon Structure for
KCNJ2
ECgene alternative splicing isoforms for
KCNJ2

Expression for KCNJ2 Gene

mRNA expression in normal human tissues for KCNJ2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ2 Gene

This gene is overexpressed in Whole Blood (x12.8) and Heart - Left Ventricle (x4.4).

Protein differential expression in normal tissues from HIPED for KCNJ2 Gene

This gene is overexpressed in Heart (62.0) and Placenta (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNJ2 Gene



Protein tissue co-expression partners for KCNJ2 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNJ2 Gene:

KCNJ2

SOURCE GeneReport for Unigene cluster for KCNJ2 Gene:

Hs.1547

mRNA Expression by UniProt/SwissProt for KCNJ2 Gene:

P63252-KCNJ2_HUMAN
Tissue specificity: Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain.
genes like me logo Genes that share expression patterns with KCNJ2: view

Primer Products

Orthologs for KCNJ2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNJ2 34 35
  • 99.61 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNJ2 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ2 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ2 34 35
  • 90.16 (n)
rat
(Rattus norvegicus)
Mammalia Kcnj2 34
  • 88.68 (n)
mouse
(Mus musculus)
Mammalia Kcnj2 34 16 35
  • 88.45 (n)
cow
(Bos Taurus)
Mammalia KCNJ2 34 35
  • 85.4 (n)
chicken
(Gallus gallus)
Aves IRK1 35
  • 95 (a)
OneToOne
KCNJ2 34
  • 84 (n)
lizard
(Anolis carolinensis)
Reptilia KCNJ2 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj2 34
  • 80.24 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnj2a 34 35
  • 76.34 (n)
kcnj2b 35
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ir 36 34
  • 56.95 (n)
Irk2 36
  • 49 (a)
Irk3 36
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001280 34
  • 53.33 (n)
worm
(Caenorhabditis elegans)
Secernentea irk-1 36 34 35
  • 52.81 (n)
irk-2 36 35
  • 48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1840 34
Species where no ortholog for KCNJ2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNJ2 Gene

ENSEMBL:
Gene Tree for KCNJ2 (if available)
TreeFam:
Gene Tree for KCNJ2 (if available)

Paralogs for KCNJ2 Gene

(16) SIMAP similar genes for KCNJ2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNJ2: view

Variants for KCNJ2 Gene

Sequence variations from dbSNP and Humsavar for KCNJ2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs104894575 Pathogenic, Long QT syndrome 7 (LQT7) [MIM:170390] 70,175,251(+) CGCAG(A/T)CATCT reference, missense
rs104894578 Pathogenic, Long QT syndrome 7 (LQT7) [MIM:170390] 70,175,691(+) ATCTT(C/T)GGAAA reference, missense
rs104894579 Pathogenic, Long QT syndrome 7 (LQT7) [MIM:170390] 70,175,938(+) GGAAG(A/C/G/T)CATGG reference, missense
rs104894580 Pathogenic, Long QT syndrome 7 (LQT7) [MIM:170390] 70,175,238(+) GGCAA(A/C/T)GGTAC reference, synonymous-codon, missense
rs104894581 Pathogenic, Long QT syndrome 7 (LQT7) [MIM:170390] 70,175,596(+) AAAGC(C/T)AAAGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KCNJ2 Gene

Variant ID Type Subtype PubMed ID
nsv2131 CNV deletion 18451855
nsv483015 CNV loss 15286789
nsv498875 CNV loss 21111241
nsv820316 CNV gain 19587683
nsv833528 CNV loss 17160897

Variation tolerance for KCNJ2 Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNJ2 Gene

Human Gene Mutation Database (HGMD)
KCNJ2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ2 Gene

Disorders for KCNJ2 Gene

MalaCards: The human disease database

(24) MalaCards diseases for KCNJ2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
andersen syndrome
  • andersen cardiodysrhythmic periodic paralysis
short qt syndrome 3
  • sqt3
atrial fibrillation, familial, 9
  • atfb9
familial short qt syndrome
  • sqts
cardiac conduction disease with or without dilated cardiomyopathy
  • familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease
- elite association - COSMIC cancer census association via MalaCards
Search KCNJ2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNJ2_HUMAN
  • Atrial fibrillation, familial, 9 (ATFB9) [MIM:613980]: A 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. {ECO:0000269 PubMed:15922306}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Long QT syndrome 7 (LQT7) [MIM:170390]: A 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. {ECO:0000269 PubMed:11371347, ECO:0000269 PubMed:12148092, ECO:0000269 PubMed:12163457, ECO:0000269 PubMed:16571646, ECO:0000269 PubMed:17324964}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Short QT syndrome 3 (SQT3) [MIM:609622]: A 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. {ECO:0000269 PubMed:15761194}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNJ2

Genetic Association Database (GAD)
KCNJ2
Human Genome Epidemiology (HuGE) Navigator
KCNJ2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ2
genes like me logo Genes that share disorders with KCNJ2: view

No data available for Genatlas for KCNJ2 Gene

Publications for KCNJ2 Gene

  1. Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. (PMID: 11240146) Derst C. … Karschin A. (FEBS Lett. 2001) 2 3 4 22 64
  2. Molecular cloning and expression of a human heart inward rectifier potassium channel. (PMID: 7696590) Raab-Graham K.F. … Vandenberg C.A. (NeuroReport 1994) 2 3 4 22 64
  3. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. (PMID: 19305409) Pfeufer A. … Chakravarti A. (Nat. Genet. 2009) 3 22 46 64
  4. Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. (PMID: 17324964) Bendahhou S. … Barhanin J. (Hum. Mol. Genet. 2007) 3 4 22 64
  5. Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. (PMID: 16571646) Lu C.W. … Towbin J.A. (J. Med. Genet. 2006) 3 4 22 64

Products for KCNJ2 Gene

Sources for KCNJ2 Gene

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