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KCNJ5 Gene

protein-coding   GIFtS: 65
GCID: GC11P128760

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

  See KCNJ5-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)
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Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 51 2     Cardiac ATP-Sensitive Potassium Channel2
GIRK42 3 5     G Protein-Activated Inward Rectifier Potassium Channel 42
Heart KATP Channel2 3     Inward Rectifier K+ Channel KIR3.42
CIR2 3     GIRK-43
IRK-42 3     KATP-13
KATP12 5     Cardiac Inward Rectifier3
LQT132 5     Inward Rectifier K(+) Channel Kir3.43
KIR3.42     Potassium Channel, Inwardly Rectifying Subfamily J Member 53

External Ids:    HGNC: 62661   Entrez Gene: 37622   Ensembl: ENSG000001204577   OMIM: 6007345   UniProtKB: P485443   

Export aliases for KCNJ5 gene to outside databases

Previous GC identifers: GC11P130761 GC11P130273 GC11P128794 GC11P128298 GC11P128266 GC11P124711


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNJ5 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, is controlled by G-proteins. It may associate with two other G-protein-activated potassium channels to
form a heteromultimeric pore-forming complex. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNJ5 Gene:
KCNJ5 (potassium inwardly-rectifying channel, subfamily J, member 5) is a protein-coding gene. Diseases associated with KCNJ5 include hyperaldosteronism, and myocardial stunning. GO annotations related to this gene include G-protein activated inward rectifier potassium channel activity and inward rectifier potassium channel activity. An important paralog of this gene is KCNJ4.

UniProtKB/Swiss-Prot: IRK5_HUMAN, P48544
Function: This potassium channel is controlled by G proteins. 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 external barium

summary for KCNJ5 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 KCNJ5 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNJ5 gene promoter:
         S8   HOXA3   IRF-7A   STAT3   NF-E2 p45   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNJ5 promoter sequence
   Search Chromatin IP Primers for KCNJ5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNJ5


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

Entrez Gene cytogenetic band: 11q24   Ensembl cytogenetic band:  11q24.3   HGNC cytogenetic band: 11q24

KCNJ5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P128760:  view genomic region     (about GC identifiers)

Start:
128,761,251 bp from pter      End:
128,790,930 bp from pter
Size:
29,680 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IRK5_HUMAN, P48544 (See protein sequence)
Recommended Name: G protein-activated inward rectifier potassium channel 4  
Size: 419 amino acids; 47668 Da
Subunit: May associate with GIRK1 and GIRK2 to form a G-protein-activated heteromultimer pore-forming unit. The
resulting inward current is much larger (By similarity)
Secondary accessions: B2R744 Q6DK13 Q6DK14 Q92807

Explore the universe of human proteins at neXtProt for KCNJ5: NX_P48544

Explore proteomics data for KCNJ5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNJ5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000881.3  
    ENSEMBL proteins: 
     ENSP00000433295   ENSP00000339960   ENSP00000434266  
    Reactome Protein details: P48544

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    antibodies-online antibodies for KCNJ5 (41 products) 

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kir3.4
    Inwardly rectifying potassium channels

    4 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR013518 K_chnl_inward-rec_Kir_cyto
     IPR016449 K_chnl_inward-rec_Kir
     IPR003277 K_chnl_inward-rec_Kir3.4

    Graphical View of Domain Structure for InterPro Entry P48544

    ProtoNet protein and cluster: P48544

    2 Blocks protein domains:
    IPB001838 Inward rectifier K+ channel superfamily signature
    IPB003277 Kir3.4 inward rectifier K+ channel signature


    UniProtKB/Swiss-Prot: IRK5_HUMAN, P48544
    Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ5 subfamily


    Find genes that share domains with KCNJ5           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IRK5_HUMAN, P48544
    Function: This potassium channel is controlled by G proteins. 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 external barium

         Genatlas biochemistry entry for KCNJ5:
    potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 5,ATP-regulated,expressed in heart

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242contributes to inward rectifier potassium channel activity IDA12297500
    GO:0005515protein binding IPI12297500
    GO:0015467G-protein activated inward rectifier potassium channel activity TAS8834003
         
    Find genes that share ontologies with KCNJ5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNJ5:
     Increased Salmonella enterica  

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Kcnj5):
     cardiovascular system 

    Find genes that share phenotypes with KCNJ5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kcnj5tm1Clph for KCNJ5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNJ5
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    SwitchGear 3'UTR luciferase reporter plasmidKCNJ5 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IRK5_HUMAN, P48544: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex TAS8834003
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with KCNJ5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNJ5 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    2Circadian entrainment
    Morphine addiction0.53
    Dopaminergic synapse0.37
    Retrograde endocannabinoid signaling0.51
    Serotonergic synapse0.33
    Circadian entrainment0.40
    3Inwardly rectifying K+ channels
    Inwardly rectifying K+ channels0.82
    G protein gated Potassium channels0.82
    Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits0.82
    Activation of G protein gated Potassium channels0.82
    4GABA receptor activation
    GABA B receptor activation0.73
    GABA receptor activation0.73
    Activation of GABAB receptors0.73
    5Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72


    Find genes that share SuperPaths with KCNJ5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KCNJ5
        G-Beta Gamma Signaling
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    2 BioSystems Pathways for KCNJ5
        Notch Signaling Pathway
    Calcium Regulation in the Cardiac Cell

    2 Reactome Pathways for KCNJ5
        Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
    Activation of G protein gated Potassium channels

    1 PharmGKB Pathway for KCNJ5
        Antiarrhythmic Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for KCNJ5) (see all 7):
        Circadian entrainment
    Retrograde endocannabinoid signaling
    Serotonergic synapse
    Dopaminergic synapse
    Estrogen signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNJ5: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCNJ5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for KCNJ5 (P485443 ENSP000003399604) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNJ3P485493, ENSP000002951014I2D: score=2 STRING: ENSP00000295101
    ADRB2P075503, ENSP000003053724I2D: score=1 STRING: ENSP00000305372
    DRD4P219173, ENSP000001761834I2D: score=1 STRING: ENSP00000176183
    DRD2P144163, ENSP000003548594I2D: score=1 STRING: ENSP00000354859
    CSE1LP550603I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport TAS8834003
    GO:0007268synaptic transmission TAS--
    GO:0071805potassium ion transmembrane transport TAS8834003

    Find genes that share ontologies with KCNJ5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KCNJ5 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]

    1 HMDB Compound for KCNJ5    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 DrugBank Compound for KCNJ5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GlyburideApo-Glibenclamide (see all 4)10238-21-8targetinhibitor11752352

    3 IUPHAR Ligands for KCNJ5 (Kir3.4)    About this table
    LigandTypeActionAffinityPubmed IDs
    Na+
    ActivatorAgonist1.48923264
    PIP2
    ActivatorNone1.4--
    NIP-142
    Pore BlockerAntagonist1.415879679

    Selected Novoseek inferred chemical compound relationships for KCNJ5 gene (see all 76)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    katp 95.7 139 12767596 (2), 9196857 (2), 7789321 (1), 9217875 (1) (see all 99)
    potassium 93.2 776 18708091 (8), 8729680 (7), 18443475 (7), 16166774 (5) (see all 99)
    sulfonylurea 90.3 40 15111507 (2), 9561992 (1), 11546780 (1), 12496311 (1) (see all 38)
    glibenclamide 89.3 42 16166774 (2), 1356754 (2), 8928870 (1), 15483097 (1) (see all 39)
    diazoxide 87.2 8 12542400 (1), 15588714 (1), 1356754 (1), 16276420 (1) (see all 8)
    5-hydroxydecanoate 83.3 7 17635669 (1), 17883937 (1), 12562916 (1)
    nicorandil 82.7 20 9456280 (2), 11407735 (2), 11085202 (1), 16116055 (1) (see all 17)
    cromakalim 82.3 11 2184910 (2), 8941521 (1), 10466488 (1), 10714952 (1) (see all 9)
    pinacidil 81 7 16166774 (2), 1560367 (1), 10570067 (1), 9515018 (1) (see all 5)
    aprikalim 79.3 6 8266368 (2), 8941521 (1), 10585107 (1)



    Find genes that share compounds with KCNJ5           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNJ5 gene: 
    NM_000890.3  

    Unigene Cluster for KCNJ5:

    Potassium inwardly-rectifying channel, subfamily J, member 5
    Hs.632109  [show with all ESTs]
    Unigene Representative Sequence: NM_000890
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529694(uc001qet.3 uc009zck.3 uc001qew.3) ENST00000338350
    ENST00000533599
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    Additional mRNA sequence: 

    AB690268.1 AK312837.1 BC069386.1 BC069482.1 BC069499.1 BC069571.1 BC074838.2 BC074839.2 
    BC096834.1 D50134.1 L47208.1 U39195.1 X83582.1 

    3 DOTS entries:

    DT.208048  DT.120760020  DT.102823611 

    Selected AceView cDNA sequences (see all 41):

    BM727319 NM_000890 BX111355 CA427872 AW140016 AI621136 BE673671 BC069386 
    BC069482 AA576525 X83582 BX647543 AA729906 AI097385 L47208 BC074839 
    BM681697 CD246187 AI312094 BC074838 AI668886 AW510681 BC069499 AI337819 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ5    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b
    SP1:                          -                           
    SP2:        -           -     -                           
    SP3:                    -     -                           
    SP4:                                                      


    ECgene alternative splicing isoforms for KCNJ5

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCNJ5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNJ5 Expression
    About this image


    KCNJ5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Retina
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Liver Lobule
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
    KCNJ5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNJ5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632109

    UniProtKB/Swiss-Prot: IRK5_HUMAN, P48544
    Tissue specificity: Islets, exocrine pancreas and heart. Expressed in the adrenal cortex, particularly the zona
    glomerulosa

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KCNJ5 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnj51 , 5 potassium inwardly-rectifying channel, subfamily J, member 5 less1, 5 88.54(n)1
    94.27(a)1
      9 (17.65 cM)5
    165211  NM_010605.41  NP_034735.31 
     323147835 
    chicken
    (Gallus gallus)
    Aves KCNJ51 potassium inwardly-rectifying channel, subfamily J, member 5 less 78.36(n)
    86.16(a)
      395925  XM_417864.3  XP_417864.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNJ56
    potassium inwardly-rectifying channel, subfamily J...
    79(a)
    1 ↔ 1
    GL343197.1(4211998-4274141)
    African clawed frog
    (Xenopus laevis)
    Amphibia kcnj5-A2 potassium inwardly-rectifying channel, subfamily J, member 5 less 76.4(n)    U42207.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnj51 potassium inwardly-rectifying channel, subfamily J, member 5 less 71.86(n)
    75.43(a)
      571888  XM_695527.5  XP_700619.4 


    ENSEMBL Gene Tree for KCNJ5 (if available)
    TreeFam Gene Tree for KCNJ5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNJ5 gene
    KCNJ42  KCNJ92  KCNJ162  KCNJ82  KCNJ12  KCNJ122  KCNJ152  KCNJ62  
    KCNJ22  KCNJ102  KCNJ142  KCNJ32  KCNJ112  
    16 SIMAP similar genes for KCNJ5 using alignment to 5 protein entries:     IRK5_HUMAN (see all proteins):
    KCNJ6    KCNJ9    KCNJ2    KCNJ3    KCNJ12    kcnj12x
    KCNJ18    KCNJ4    KCNJ11    KCNJ15    KCNJ8    KCNJ1
    KCNJ14    KCNJ10    KCNJ16    KCNJ13

    Find genes that share paralogs with KCNJ5           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNJ5 (see all 844)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1998302921,2,,4
    CLong QT syndrome 13 (LQT13)4 pathogenic1128655690(+) TGCTGC/GGGGGC 2 R G mis10--------
    VAR_0659314
    Familial hyperaldosteronism 3 (FH3)4--see VAR_0659312 T A mis40--------
    VAR_0670904
    Familial hyperaldosteronism 3 (FH3)4--see VAR_0670902 G E mis40--------
    VAR_0659304
    Familial hyperaldosteronism 3 (FH3)4--see VAR_0659302 G R mis40--------
    rs714706541,2
    C--124711154(+) ACACAG/CAGAGA 1 -- ut511Minor allele frequency- C:0.00NA 2
    rs108939311,2
    C,H--124711160(+) ACACAC/GAGAGA 1 -- ut51 ese30--------
    rs1428720561,2
    C--124716326(+) TGGGG-/GTGTGTG 1 -- int10--------
    rs351836841,2
    C--124716327(+) GTGTG-/GT/TG 
            
    GTTTT
    1 -- int10--------
    rs359665211,2
    C--124716812(+) ACCAC-/TTTTTT 1 -- int10--------
    rs1423361201,2
    C--128623310(+) TCATAG/TGTCGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for KCNJ5 (128761251 - 128790930 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KCNJ5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656616CNV Deletion23128226
    esv2657032CNV Deletion23128226
    esv2745243CNV Deletion23290073
    esv2745242CNV Deletion23290073
    nsv468892CNV Loss19166990

    Human Gene Mutation Database (HGMD): KCNJ5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNJ5
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNJ5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600734   
    OMIM disorders: 613485  613677  
    UniProtKB/Swiss-Prot: IRK5_HUMAN, P48544
  • Long QT syndrome 13 (LQT13) [MIM:613485]: 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Familial hyperaldosteronism 3 (FH3) [MIM:613677]: A form of hyperaldosteronism characterized by
    hypertension secondary to massive adrenal mineralocorticoid production. Like patients with familial
    hyperaldosteronism type 1 (glucocorticoid-remediable aldosteronism), patients with FH3 present with childhood
    hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and
    18-hydroxycortisol. However, hypertension and aldosteronism are not reversed by administration of exogenous
    glucocorticoids and patients require adrenalectomy to control hypertension. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Note=Somatic mutations in KCNJ5 have been found in aldosterone-producing adrenal adenomas (APA) and can
    be responsible for aldosteronism associated with cell autonomous proliferation. APAs are typically solitary, well
    circumscribed tumors diagnosed between ages 30 and 70. They come to medical attention due to new or worsening
    hypertension, often with hypokalemia. The precise role of KCNJ5 mutations in APA is under debate. They produce
    increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry,
    the signal for aldosterone production and cell proliferation. However, they may not be causative of APA
    development but may be a consequence of tumorigenesis, playing only a contributory role toward aldosterone
    overproduction and tumor growth (PubMed:22275527). Somatic mutations in KCNJ5 have not been found in
    non-aldosterone secreting adrenal adenomas suggesting that they are specifically associated with APA
    (PubMed:22275527 and PubMed:22848660)

  • 14 diseases for KCNJ5:    
    About MalaCards
    hyperaldosteronism    myocardial stunning    familial hyperaldosteronism    long qt syndrome 13
    hyperaldosteronism, familial, type iii    andersen-tawil syndrome    anoxia    diabetes, permanent neonatal
    conn's syndrome    permanent neonatal diabetes mellitus    acute insulin response    hyperinsulinism
    long qt syndrome 1    myocardial infarction

    3 diseases from the University of Copenhagen DISEASES database for KCNJ5:
    Conn's syndrome     Hyperaldosteronism     Adenoma

    Find genes that share disorders with KCNJ5           About GenesLikeMe

    Selected Novoseek inferred disease relationships for KCNJ5 gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neonatal diabetes mellitus 81.4 6 16885555 (1), 17491708 (1), 18073297 (1), 17476415 (1) (see all 5)
    hyperinsulinism 76.1 6 16492972 (1), 18250167 (1), 16357843 (1), 17179930 (1) (see all 6)
    myocardial stunning 61 3 8534242 (1), 7646421 (1), 8901700 (1)
    ischemia 60.7 11 8763397 (1), 7579841 (1), 11407735 (1), 18708091 (1) (see all 11)
    hypoglycemia 53.8 1 12199344 (1)
    myocardial ischemia 52.5 21 7923277 (2), 18708091 (2), 9196857 (2), 8111782 (1) (see all 18)
    niddm 44.6 4 8904234 (1), 12437993 (1), 9200660 (1), 9748883 (1)
    insulinoma 44.1 1 12542400 (1)
    arrhythmia 43 6 7923277 (2), 18708091 (2), 8294705 (1), 1417706 (1)
    coronary occlusion 42.4 2 15020520 (2)

    Genetic Association Database (GAD): KCNJ5
    Human Genome Epidemiology (HuGE) Navigator: KCNJ5 (2 documents)

    Export disorders for KCNJ5 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)
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    PubMed articles for KCNJ5 gene, integrated from 10 sources (see all 488):
    (articles sorted by number of sources associating them with KCNJ5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A G-protein-activated inwardly rectifying K+ channel (GIRK4) from human hippocampus associates with other GIRK channels. (PubMed id 8558261)1, 2, 9 Spauschus A....Karschin A. (J. Neurosci. 1996)
    2. Genetic variation in the inwardly rectifying K channel subunits KCNJ3 (GIRK1) and KCNJ5 (GIRK4) in patients with sinus node dysfunction. (PubMed id 20110696)1, 4, 9 Holmegard H.N....Svendsen J.H. (Cardiology 2010)
    3. Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter. (PubMed id 22848660)1, 2 Akerstrom T.... Bjorklund P. (PLoS ONE 2012)
    4. Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism. (PubMed id 22275527)1, 2 Boulkroun S.... Zennaro M.C. (Hypertension 2012)
    5. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. (PubMed id 22308486)1, 2 Scholl U.I....Lifton R.P. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. (PubMed id 22203740)1, 2 Mulatero P....Reincke M. (Hypertension 2012)
    7. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. (PubMed id 21311022)1, 2 Choi M.... Lifton R.P. (Science 2011)
    8. Identification of a Kir3.4 mutation in congenital long QT syndrome. (PubMed id 20560207)1, 2 Yang Y.... Chen Y.H. (Am. J. Hum. Genet. 2010)
    9. The single nucleotide polymorphisms of Kir3.4 gene and their correlation with lone paroxysmal atrial fibrillation in Chinese Han population. (PubMed id 19208499)1, 4 Zhang C....Wei F.P. (amp 2009)
    10. International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)1, 3 Kubo Y....Vandenberg C.A. (Pharmacol. Rev. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3762 HGNC: 6266 AceView: KCNJ5 Ensembl:ENSG00000120457 euGenes: HUgn3762
    ECgene: KCNJ5 Kegg: 3762 H-InvDB: KCNJ5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KCNJ5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNJ5 gene:
    Search GeneIP for patents involving KCNJ5

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



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