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Aliases for KCNJ2 Gene

Aliases for KCNJ2 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 2 2 3
  • IRK1 3 4 6
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 2 2 3
  • Cardiac Inward Rectifier Potassium Channel 3 4
  • HHIRK1 3 6
  • KIR2.1 3 6
  • ATFB9 3 6
  • IRK-1 3 4
  • HIRK1 3 4
  • LQT7 3 6
  • SQT3 3 6
  • 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

External Ids for KCNJ2 Gene

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 Channel, Inwardly Rectifying Subfamily J, Member 2) is a Protein Coding gene. Diseases associated with KCNJ2 include atrial fibrillation, familial, 9 and short qt syndrome 3. Among its related pathways are GABA receptor activation and Transmission across Chemical Synapses. GO annotations related to this gene include identical protein binding and inward rectifier potassium channel activity. An important paralog of this gene is KCNJ3.

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 (SUR)). Structurally, the pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within subfamilies, e.g. KIR3.2 with KIR3.3.

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

Genomic Location for KCNJ2 Gene

Start:
70,168,673 bp from pter
End:
70,180,048 bp from pter
Size:
11,376 bases
Orientation:
Plus strand

Genomic View for KCNJ2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNJ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ2 Gene

Regulatory Elements 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

Proteomics data for KCNJ2 Gene at MOPED

Post-translational modifications for KCNJ2 Gene

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

Other Protein References for KCNJ2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ2 Gene

Domains for KCNJ2 Gene

Gene Families for KCNJ2 Gene

HGNC:
  • KCN :Potassium channels
  • KCNJ :Voltage-gated ion channels / Potassium channels, Inwardly rectifying
IUPHAR :

UniProtKB/Swiss-Prot:

KCNJ2_HUMAN
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily.:
    • P63252
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:0005515 protein binding --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 12086641
GO:0042802 identical protein binding IEA --
GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization IMP 11371347
genes like me logo Genes that share ontologies with KCNJ2: view
genes like me logo Genes that share phenotypes with KCNJ2: view

Animal Models for KCNJ2 Gene

MGI Knock Outs for KCNJ2:

miRNA for KCNJ2 Gene

miRTarBase miRNAs that target KCNJ2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
extracellular 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
nucleus 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 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:0006813 potassium ion transport IDA 20921230
GO:0007268 synaptic transmission TAS --
GO:0010107 potassium ion import IDA 11371347
GO:0014861 regulation of skeletal muscle contraction via regulation of action potential IMP 11371347
GO:0015693 magnesium ion transport IEA --
genes like me logo Genes that share ontologies with KCNJ2: view

Compounds for KCNJ2 Gene

(5) Tocris Compounds for KCNJ2 Gene

Compound Action Cas Number
Diazoxide Blocks desensitization of AMPA receptors [364-98-7]
Glibenclamide Kir6 (KATP) channel blocker [10238-21-8]
Levcromakalim Kir6 (KATP) channel opener. Active enantiomer of cromakalim (Cat. No. 1377) [94535-50-9]
P1075 Potent Kir6 (KATP) channel opener [60559-98-0]
Tertiapin-Q Selective blocker of inward-rectifier K+ channels [252198-49-5]

(2) HMDB Compounds for KCNJ2 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4
Potassium
  • K+
7440-09-7

(1) IUPHAR Ligand for KCNJ2 Gene

Ligand Type Action Affinity Pubmed IDs
Mg2+ Antagonist Antagonist

(13) Novoseek inferred chemical compound relationships for KCNJ2 Gene

Compound -log(P) Hits PubMed IDs
potassium 77.2 50
pip2 54.1 1
spermine 42.5 2
tetraethylammonium 27.7 1
carbachol 16.2 5
genes like me logo Genes that share compounds with KCNJ2: view

Transcripts for KCNJ2 Gene

mRNA/cDNA for KCNJ2 Gene

Unigene Clusters for KCNJ2 Gene

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

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 (12.8) and Heart - Left Ventricle (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNJ2 Gene

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 expressions with KCNJ2: view

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 36
  • 99.61 (n)
  • 100 (a)
KCNJ2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNJ2 36
  • 85.4 (n)
  • 99.3 (a)
KCNJ2 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ2 36
  • 90.16 (n)
  • 99.3 (a)
KCNJ2 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj2 36
  • 88.45 (n)
  • 98.59 (a)
Kcnj2 16
Kcnj2 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNJ2 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ2 37
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj2 36
  • 88.68 (n)
  • 98.83 (a)
chicken
(Gallus gallus)
Aves IRK1 37
  • 95 (a)
OneToOne
KCNJ2 36
  • 84 (n)
  • 94.38 (a)
lizard
(Anolis carolinensis)
Reptilia KCNJ2 37
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj2 36
  • 80.24 (n)
  • 90.59 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnj2a 36
  • 76.34 (n)
  • 84.91 (a)
kcnj2a 37
  • 84 (a)
OneToMany
kcnj2b 37
  • 71 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001280 36
  • 53.33 (n)
  • 52.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ir 36
  • 56.95 (n)
  • 53.07 (a)
Ir 38
  • 51 (a)
Irk2 38
  • 49 (a)
Irk3 38
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-1 36
  • 52.81 (n)
  • 47.19 (a)
irk-1 37
  • 32 (a)
ManyToMany
irk-2 37
  • 37 (a)
ManyToMany
irk-2 38
  • 48 (a)
irk-1 38
  • 47 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1840 36
Species with no ortholog for KCNJ2:
  • 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

Selected 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 MAF
rs173135 Benign 70,176,185(-) CTTGT(A/G)AGGGC reference, synonymous-codon
rs236513 -- 70,173,317(-) CCATT(A/G)AGATT intron-variant
rs236514 -- 70,177,590(+) TCCAC(A/G)CTTGC utr-variant-3-prime
rs643637 -- 70,180,074(+) CTTCC(C/T)GTATG downstream-variant-500B
rs1042485 -- 70,175,052(+) GTGTG(A/C/G)GAACC synonymous-codon, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv483015 CNV Loss 15286789
nsv833528 CNV Loss 17160897
nsv2131 CNV Loss 18451855
nsv498875 CNV Loss 21111241
nsv820316 CNV Gain 19587683

Relevant External Links for KCNJ2 Gene

HapMap Linkage Disequilibrium report
KCNJ2
Human Gene Mutation Database (HGMD)
KCNJ2
Locus Specific Mutation Databases (LSDB)
KCNJ2

Disorders for KCNJ2 Gene

(3) OMIM Diseases for KCNJ2 Gene (600681)

UniProtKB/Swiss-Prot

KCNJ2_HUMAN
  • 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.
  • 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.

(19) Novoseek inferred disease relationships for KCNJ2 Gene

Disease -log(P) Hits PubMed IDs
andersen syndrome 98.2 28
periodic paralysis 93 10
long qt syndrome 73.7 3
ventricular tachycardia, catecholaminergic polymorphic 72.7 2
arrhythmia 72.4 9

Relevant External Links for KCNJ2

GeneTests
KCNJ2
GeneReviews
KCNJ2
Genetic Association Database (GAD)
KCNJ2
Human Genome Epidemiology (HuGE) Navigator
KCNJ2
genes like me logo Genes that share disorders with KCNJ2: view

Publications for KCNJ2 Gene

  1. 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 23
  2. Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. (PMID: 11240146) Derst C. … Karschin A. (FEBS Lett. 2001) 2 3 4 23
  3. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. (PMID: 12148092) Andelfinger G. … Benson D.W. (Am. J. Hum. Genet. 2002) 3 4 23
  4. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). (PMID: 12163457) Tristani-Firouzi M. … Tawil R. (J. Clin. Invest. 2002) 3 4 23
  5. Inwardly rectifying whole cell potassium current in human blood eosinophils. (PMID: 9490857) Tare M. … Bolton T.B. (J. Physiol. (Lond.) 1998) 3 4 23

Products for KCNJ2 Gene

Sources for KCNJ2 Gene

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