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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNJ2 Gene

protein-coding   GIFtS: 68
GCID: GC17P068165

Potassium Inwardly-Rectifying Channel, Subfamily J, Member...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 21 2     SQT32 5
IRK12 3 5     ATFB92
Cardiac Inward Rectifier Potassium Channel2 3     HHBIRK12
IRK-12 3     Inward Rectifier K+ Channel KIR2.12
hIRK12 3     Inward Rectifier Potassium Channel 22
HHIRK12 5     Inward Rectifier K(+) Channel Kir2.13
KIR2.12 5     Potassium Channel, Inwardly Rectifying Subfamily J Member 23
LQT72 5     

External Ids:    HGNC: 62631   Entrez Gene: 37592   Ensembl: ENSG000001237007   OMIM: 6006815   UniProtKB: P632523   

Export aliases for KCNJ2 gene to outside databases

Previous GC identifers: GC17P067921 GC17P071125 GC17P068630 GC17P068762 GC17P065677 GC17P063552


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 inwardly-rectifying channel, subfamily J, member 2) is a protein-coding gene. Diseases associated with KCNJ2 include andersen-tawil syndrome, and short qt syndrome, and among its related super-pathways are Voltage gated Potassium channels and Activation of G protein gated Potassium channels. GO annotations related to this gene include inward rectifier potassium channel activity and identical protein binding. An important paralog of this gene is KCNJ4.

UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252
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

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 (Kir2.1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNJ2 gene promoter:
         Nkx3-1 v2   Nkx3-1   AREB6   Nkx3-1 v4   Nkx3-1 v3   Nkx3-1 v1   ITF-2   Tal-1beta   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNJ2 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNJ2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24.3   Ensembl cytogenetic band:  17q24.3   HGNC cytogenetic band: 17q24.3

KCNJ2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P068165:  view genomic region     (about GC identifiers)

Start:
68,164,814 bp from pter      End:
68,176,189 bp from pter
Size:
11,376 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252 (See protein sequence)
Recommended Name: Inward rectifier potassium channel 2  
Size: 427 amino acids; 48288 Da
Subunit: Homomultimeric and heteromultimeric association with Kir2.3, resulting in an enhanced G-protein-induced
current. 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)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: O15110 P48049

Explore the universe of human proteins at neXtProt for KCNJ2: NX_P63252

Explore proteomics data for KCNJ2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P63252

  • KCNJ2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNJ2 Protein Expression
    REFSEQ proteins: NP_000882.1  
    ENSEMBL proteins: 
     ENSP00000441848   ENSP00000243457  
    Reactome Protein details: P63252
    Human Recombinant Protein Products for KCNJ2: 
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    Cloud-Clone Corp. Proteins for KCNJ2 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS7696590
    GO:0008076voltage-gated potassium channel complex IDA12086641
    GO:0016021integral to membrane ----
    GO:0030425dendrite IEA--

    KCNJ2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KCN: Potassium channels
    KCNJ: Voltage-gated ion channels / Potassium channels, Inwardly rectifying

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kir2.1 
    Inwardly rectifying potassium channels

    5 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR013518 K_chnl_inward-rec_Kir_cyto
     IPR016449 K_chnl_inward-rec_Kir
     IPR013673 K_chnl_inward-rec_Kir_N
     IPR003271 K_chnl_inward-rec_Kir2.1

    Graphical View of Domain Structure for InterPro Entry P63252

    ProtoNet protein and cluster: P63252

    1 Blocks protein domain: IPB013673 Inward rectifier potassium channel N-terminal

    UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252
    Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily


    KCNJ2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IRK2_HUMAN, P63252
    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

         Genatlas biochemistry entry for KCNJ2:
    potassium non voltage-gated,inwardly rectifying subfamily member,ATP regulated,expressed in heart,brain,mouse
    mIRK1 homolog

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity IDA11371347
    GO:0005515protein binding ----
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IDA12086641
    GO:0042802identical protein binding IEA--
    GO:0086008voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization IMP11371347
         
    KCNJ2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNJ2:
     Increased cell number in G2M,  

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kcnj2):
     cardiovascular system  craniofacial  digestive/alimentary  homeostasis/metabolism  mortality/aging 
     muscle  respiratory system  skeleton 

    KCNJ2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnj2tm1Swz for KCNJ2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNJ2 
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    hsa-miR-124* hsa-miR-411* hsa-miR-607 hsa-miR-193a-3p hsa-miR-520f hsa-miR-15a hsa-miR-938 hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidKCNJ2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNJ2 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters: outward current0.42
    2Inwardly rectifying K+ channels
    G protein gated Potassium channels0.81
    Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits0.81
    Activation of G protein gated Potassium channels0.81
    Inwardly rectifying K+ channels0.81
    3Activation of GABAB receptors
    Activation of GABAB receptors0.72
    GABA B receptor activation0.72
    GABA receptor activation0.72
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    5Circadian entrainment
    Cholinergic synapse0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for KCNJ2
        Potassium transporters- inward current
    Potassium transporters- outward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNJ2
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    5/12        Reactome Pathways for KCNJ2 (see all 12)
        Classical Kir channels
    Transmission across Chemical Synapses
    G protein gated Potassium channels
    Neuronal System
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell

    1 PharmGKB Pathway for KCNJ2
        Antiarrhythmic Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for KCNJ2):
        Cholinergic synapse
    Gastric acid secretion


    KCNJ2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNJ2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/18 Interacting proteins for KCNJ2 (P632523 ENSP000002434574) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL16Q140053, ENSP000003029354I2D: score=5 STRING: ENSP00000302935
    CASKO149363, ENSP000003674084I2D: score=2 STRING: ENSP00000367408
    DLG1Q129593, ENSP000003457314I2D: score=2 STRING: ENSP00000345731
    KCNJ4P480503, ENSP000003064974I2D: score=1 STRING: ENSP00000306497
    KCNJ8Q158423, ENSP000002406624I2D: score=1 STRING: ENSP00000240662
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport IDA--
    GO:0007268synaptic transmission TAS--
    GO:0010107potassium ion import IDA11371347
    GO:0014861regulation of skeletal muscle contraction via regulation of action potential IMP11371347
    GO:0015693magnesium ion transport IEA--

    KCNJ2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNJ2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNJ2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    LevcromakalimKir6 (KATP) channel opener. Active enantiomer of cromakalim (Cat. No. 1377)[94535-50-9]
    DiazoxideBlocks desensitization of AMPA receptors[364-98-7]
    GlibenclamideKir6 (KATP) channel blocker[10238-21-8]
    P1075Potent Kir6 (KATP) channel opener[60559-98-0]
    Tertiapin-QSelective blocker of inward-rectifier K+ channels[252198-49-5]

    2 HMDB Compounds for KCNJ2    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    PotassiumK+ (see all 16)7440-09-7--

    1 IUPHAR Ligand for KCNJ2 (Kir2.1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    Mg2+
    InhibitorNone--

    10/13 Novoseek inferred chemical compound relationships for KCNJ2 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 77.2 60 8609894 (3), 9284339 (3), 8842207 (2), 11971171 (2) (see all 43)
    pip2 54.1 1 16217063 (1)
    spermine 42.5 7 15795311 (2)
    tetraethylammonium 27.7 2 16043774 (1)
    carbachol 16.2 5 14500755 (3), 8609894 (2)
    pd 98,059 11.1 1 14500755 (1)
    isoproterenol 10 1 17534603 (1)
    ammonium 1.43 1 11687881 (1)
    calcium 0 3 18382206 (1), 8609894 (1), 16831831 (1)
    tyrosine 0 1 9284339 (1)

    Search CenterWatch for drugs/clinical trials and news about KCNJ2 / IRK2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KCNJ2 gene: 
    NM_000891.2  

    Unigene Cluster for KCNJ2:

    Potassium inwardly-rectifying channel, subfamily J, member 2
    Hs.1547  [show with all ESTs]
    Unigene Representative Sequence: NM_000891
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000535240 ENST00000243457(uc010dfg.3 uc002jir.3)
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    Additional mRNA sequence: 

    AF011904.1 AF021139.1 AF153820.1 AK314081.1 U12507.1 U16861.1 U22413.1 U24055.1 

    3 DOTS entries:

    DT.451826  DT.99998448  DT.120910126 

    24/50 AceView cDNA sequences (see all 50):

    BX102104 CD679179 AA393849 CO247976 BF111326 AF021139 AF153820 AA393850 
    AA912659 AI475473 AI459196 AA253318 U12507 NM_000891 CB322001 BU680308 
    AF011904 W38679 AI915681 CO250023 CO247796 CO247550 W44762 CO247748 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNJ2 expression in normal human tissues (normalized intensities)      KCNJ2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTGTACAT
    KCNJ2 Expression
    About this image


    KCNJ2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   
     
     Brain (Nervous System)
             Human Hippocampal Astrocytes   
     
     Uncategorized (Uncategorized)
             PureStem Progenitor ES-199

    See KCNJ2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNJ2

    SOURCE GeneReport for Unigene cluster: Hs.1547

    UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252
    Tissue specificity: Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout
    the brain

        SABiosciences Expression via Pathway-Focused PCR Array including KCNJ2: 
              Neuronal Ion Channels in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KCNJ2 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnj21 , 5 potassium inwardly-rectifying channel, subfamily J, more1, 5 88.45(n)1
    98.59(a)1
      11 (75.23 cM)5
    165181  NM_008425.41  NP_032451.11 
     1110661645 
    chicken
    (Gallus gallus)
    Aves KCNJ21 potassium inwardly-rectifying channel, subfamily J, more 84(n)
    94.38(a)
      396328  NM_205370.1  NP_990701.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNJ26
    Uncharacterized protein
    94(a)
    1 ↔ 1
    GL343258.1(1990283-1991560)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1377121002   -- 75.41(n)    137712100 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5645221 inward rectifier potassium channel 2-like 76.34(n)
    84.91(a)
      564522  XM_001923051.1  XP_001923086.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNJ2 gene
    KCNJ42  KCNJ92  KCNJ162  KCNJ82  KCNJ12  KCNJ122  KCNJ152  KCNJ52  
    KCNJ62  KCNJ102  KCNJ142  KCNJ32  KCNJ112  
    16 SIMAP similar genes for KCNJ2 using alignment to 1 protein entry:     IRK2_HUMAN:
    KCNJ12    KCNJ18    kcnj12x    KCNJ5    KCNJ14    KCNJ4
    KCNJ6    KCNJ9    KCNJ3    KCNJ11    KCNJ15    KCNJ10
    KCNJ16    KCNJ1    KCNJ8    KCNJ13

    KCNJ2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/314 SNPs in KCNJ2 are shown (see all 314)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0178544
    Long QT syndrome 7 (LQT7)4--see VAR_0178542 P L mis40--------
    VAR_0178554
    Long QT syndrome 7 (LQT7)4--see VAR_0178552 N H mis40--------
    VAR_0658634
    Familial atrial fibrillation 9 (ATFB9)4--see VAR_0658632 V I mis40--------
    VAR_0178514
    Long QT syndrome 7 (LQT7)4--see VAR_0178512 R W mis40--------
    VAR_0178584
    Long QT syndrome 7 (LQT7)4--see VAR_0178582 V M mis40--------
    VAR_0238424
    Short QT syndrome 3 (SQT3)4--see VAR_0238422 D N mis40--------
    VAR_0178574
    Long QT syndrome 7 (LQT7)4--see VAR_0178572 G V mis40--------
    VAR_0658624
    Long QT syndrome 7 (LQT7)4--see VAR_0658622 T R mis40--------
    VAR_0178524
    Long QT syndrome 7 (LQT7)4--see VAR_0178522 D V mis40--------
    VAR_0658644
    Long QT syndrome 7 (LQT7)4--see VAR_0658642 T P mis40--------

    HapMap Linkage Disequilibrium report for KCNJ2 (68164814 - 68176189 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KCNJ2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833528CNV Loss17160897
    nsv483015CNV Loss15286789
    nsv498875CNV Loss21111241
    nsv2131CNV Loss18451855
    nsv820316CNV Gain19587683


    Human Gene Mutation Database (HGMD): KCNJ2

    Locus Specific Mutation Databases (LSDB): KCNJ2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600681   
    OMIM disorders: 170390  609622  
    UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252
  • 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. 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Familial atrial fibrillation 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/22 diseases for KCNJ2 (see all 22):    About MalaCards
    andersen-tawil syndrome    short qt syndrome    periodic paralyses    short qt syndrome 3
    andersen syndrome type 1    kcnj2-related familial atrial fibrillation    pierre robin sequence    hyperkalemic periodic paralysis
    catecholaminergic polymorphic ventricular tachycardia    paralysis    familial long qt syndrome    familial atrial fibrillation
    hypokalemic periodic paralysis    long qt syndrome    thyrotoxic periodic paralysis    sudden infant death syndrome
    syncope    congestive heart failure    thromboembolism    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for KCNJ2:
    Long QT syndrome     Hypokalemic periodic paralysis     Hyperkalemic periodic paralysis

    KCNJ2 for disorders           About GeneDecksing

    10/19 Novoseek inferred disease relationships for KCNJ2 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    andersen syndrome 98.2 29 16541386 (4), 12689820 (2), 15852530 (1), 16769944 (1) (see all 24)
    periodic paralysis 93 11 17324964 (2), 16571646 (1), 16500306 (1), 16541386 (1) (see all 9)
    long qt syndrome 73.7 3 14642002 (1), 15276028 (1), 16623272 (1)
    ventricular tachycardia, catecholaminergic polymorphic 72.7 2 19843922 (2)
    arrhythmia 72.4 9 17341397 (2), 16541386 (1), 17324964 (1), 15276028 (1) (see all 8)
    ventricular arrhythmia 66.4 7 15851159 (1), 15852530 (1), 17221872 (1), 17166852 (1) (see all 7)
    tachycardia ventricular 62.8 3 15851159 (2), 15851160 (1)
    death sudden cardiac 59.9 1 17272325 (1)
    ventricular tachyarrhythmia 59.5 1 16258766 (1)
    clinodactyly 53.7 1 17119796 (1)

    GeneTests: KCNJ2
    GeneReviews: KCNJ2
    Genetic Association Database (GAD): KCNJ2
    Human Genome Epidemiology (HuGE) Navigator: KCNJ2 (8 documents)

    Export disorders for KCNJ2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KCNJ2 gene, integrated from 9 sources (see all 211):
    (articles sorted by number of sources associating them with KCNJ2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of a human heart inward rectifier potassium channel. (PubMed id 7696590)1, 2, 3, 9 Raab-Graham K.F.... Vandenberg C.A. (1994)
    2. Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. (PubMed id 11240146)1, 2, 3, 9 Derst C.... Karschin A. (2001)
    3. Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. (PubMed id 16571646)1, 2, 9 Lu C.W....Towbin J.A. (2006)
    4. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). (PubMed id 12163457)1, 2, 9 Tristani-Firouzi M.... Tawil R. (2002)
    5. Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. (PubMed id 17324964)1, 2, 9 Bendahhou S....Barhanin J. (2007)
    6. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. (PubMed id 12148092)1, 2, 9 Andelfinger G....Benson D.W. (2002)
    7. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. (PubMed id 15761194)1, 2, 9 Priori S.G.... Jalife J. (2005)
    8. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. (PubMed id 17210839)1, 4, 9 Arnestad M....Schwartz P.J. (2007)
    9. Inwardly rectifying whole cell potassium current in human blood eosinophils. (PubMed id 9490857)1, 2, 9 Tare M.... Bolton T.B. (1998)
    10. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. (PubMed id 19305409)1, 4, 9 Pfeufer A....Chakravarti A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3759 HGNC: 6263 AceView: KCNJ2 Ensembl:ENSG00000123700 euGenes: HUgn3759
    ECgene: KCNJ2 Kegg: 3759 H-InvDB: KCNJ2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNJ2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNJ2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNJ2 gene:
    Search GeneIP for patents involving KCNJ2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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