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KCNJ12 Gene

protein-coding   GIFtS: 64
GCID: GC17P022222

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

(Previous names: potassium inwardly-rectifying channel, subfamily J, inhibitor...)
(Previous symbol: KCNJN1)
  See KCNJ12-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 121 2     Kir2.22
KCNJN11 2 3 5     Kir2.2v2
Potassium Inwardly-Rectifying Channel, Subfamily J, Inhibitor 11 2     ATP-Sensitive Inward Rectifier Potassium Channel 122
Inward Rectifier K(+) Channel Kir2.22 3     hIRK2
Inward Rectifier K(+) Channel Kir2.2v2 3     hIRK12
Potassium Channel, Inwardly Rectifying Subfamily J Member 122 3     hkir2.2x2
IRK-22 3     Inward Rectifier K(+) Channel Kir2.62
IRK22 3     kcnj12x2

External Ids:    HGNC: 62581   Entrez Gene: 37682   Ensembl: ENSG000001841857   OMIM: 6023235   UniProtKB: Q145003   

Export aliases for KCNJ12 gene to outside databases

Previous GC identifers: GC17P021500 GC17P022929 GC17P021184 GC17P021441 GC17P021220 GC17P021259 GC17P020482 GC17P021339 GC17P021532


(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 KCNJ12 Gene:
This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is
thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier
current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. (provided by
RefSeq, Jul 2008)

GeneCards Summary for KCNJ12 Gene:
KCNJ12 (potassium inwardly-rectifying channel, subfamily J, member 12) is a protein-coding gene. Diseases associated with KCNJ12 include lens subluxation, and bartter disease. GO annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ4.

UniProtKB/Swiss-Prot: IRK12_HUMAN, Q14500
Function: Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that
probably participates in controlling the resting membrane potential in electrically excitable cells. 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

summary for KCNJ12 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 KCNJ12 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_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNJ12 gene promoter:
         AhR   AML1a   Pax-6   HNF-4alpha1   Arnt   N-Myc   FOXO1a   ZID   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNJ12 promoter sequence
   Search Chromatin IP Primers for KCNJ12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNJ12


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.1

KCNJ12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ12 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P022222:  view genomic region     (about GC identifiers)

Start:
21,279,509 bp from pter      End:
21,323,179 bp from pter
Size:
43,671 bases      Orientation:
plus strand

1 alternative location:
Chr17+,NW_003315950 28,752-72,232     

(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: IRK12_HUMAN, Q14500 (See protein sequence)
Recommended Name: ATP-sensitive inward rectifier potassium channel 12  
Size: 433 amino acids; 49001 Da
Subunit: 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). Homotetramer
Secondary accessions: O43401 Q15756 Q8NG63

Explore the universe of human proteins at neXtProt for KCNJ12: NX_Q14500

Explore proteomics data for KCNJ12 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNJ12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066292.2  
    ENSEMBL proteins: 
     ENSP00000463778   ENSP00000328150  
    Reactome Protein details: Q14500

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    antibodies-online peptides for KCNJ12

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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: Kir2.2
    Inwardly rectifying potassium channels

    5 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR003272 K_chnl_inward-rec_Kir2.2
     IPR013518 K_chnl_inward-rec_Kir_cyto
     IPR016449 K_chnl_inward-rec_Kir
     IPR013673 K_chnl_inward-rec_Kir_N

    Graphical View of Domain Structure for InterPro Entry Q14500

    ProtoNet protein and cluster: Q14500

    3 Blocks protein domains:
    IPB001838 Inward rectifier K+ channel superfamily signature
    IPB003272 Kir2.2 inward rectifier K+ channel signature
    IPB013673 Inward rectifier potassium channel N-terminal


    UniProtKB/Swiss-Prot: IRK12_HUMAN, Q14500
    Domain: Phosphatidylinositol 4,5-bisphosphate binding to the cytoplasmic side of the channel triggers a
    conformation change leading to channel opening (By similarity)
    Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily


    Find genes that share domains with KCNJ12           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: IRK12_HUMAN, Q14500
    Function: Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that
    probably participates in controlling the resting membrane potential in electrically excitable cells. 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

         Genatlas biochemistry entry for KCNJ12:
    potassium non voltage-gated channel,inwardly rectifying,subfamily J,alpha subunit KIR2.2,unlikely to be involved
    in the Smith-Magenis syndrome

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity IDA--
         
    Find genes that share ontologies with KCNJ12           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNJ12:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnj12):
     adipose tissue  behavior/neurological  cardiovascular system  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  other 

    Find genes that share phenotypes with KCNJ12           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kcnj12tm1Swz for KCNJ12

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNJ12
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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
    IRK12_HUMAN, Q14500: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    extracellular1
    golgi apparatus1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0031224intrinsic component of membrane IDA--

    Find genes that share ontologies with KCNJ12           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 KCNJ12 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    2Inwardly rectifying K+ channels
    Inwardly rectifying K+ channels0.82
    Activation of G protein gated Potassium channels0.82
    Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits0.82
    Classical Kir channels0.00
    G protein gated Potassium channels0.82
    3GABA receptor activation
    GABA B receptor activation0.73
    GABA receptor activation0.73
    Activation of GABAB receptors0.73
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    5Circadian entrainment
    Cholinergic synapse0.37


    Find genes that share SuperPaths with KCNJ12           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNJ12
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    3 Reactome Pathways for KCNJ12
        Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
    Classical Kir channels
    Activation of G protein gated Potassium channels


    2 Kegg Pathways  (Kegg details for KCNJ12):
        Cholinergic synapse
    Oxytocin signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KCNJ12: 
              Neuronal Ion Channels in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCNJ12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for KCNJ12 (Q145003 ENSP000003281504) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG1Q129593, ENSP000003457314I2D: score=5 STRING: ENSP00000345731
    CASKO149363, ENSP000003674084I2D: score=4 STRING: ENSP00000367408
    LIN7AO149103, ENSP000002612034I2D: score=4 STRING: ENSP00000261203
    DLG2Q157003, ENSP000003652724I2D: score=3 STRING: ENSP00000365272
    DLG3Q927963, ENSP000003634804I2D: score=3 STRING: ENSP00000363480
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    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport IDA--
    GO:0006936muscle contraction TAS7859381
    GO:0007268synaptic transmission TAS--
    GO:0008016regulation of heart contraction TAS7859381
    GO:0051289protein homotetramerization IDA--

    Find genes that share ontologies with KCNJ12           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 KCNJ12 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 KCNJ12    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 DrugBank Compound for KCNJ12    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DofetilideDofetilida [INN-Spanish] (see all 2)115256-11-6targetinhibitor8700146

    1 IUPHAR Ligand for KCNJ12 (Kir2.2)    About this table
    LigandTypeActionAffinityPubmed IDs
    Mg2+
    InhibitorNone--

    1 Novoseek inferred chemical compound relationship for KCNJ12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 55.2 5 12417321 (2), 9533018 (1), 15276477 (1)



    Find genes that share compounds with KCNJ12           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 KCNJ12 gene: 
    NM_021012.4  

    Unigene Cluster for KCNJ12:

    Potassium inwardly-rectifying channel, subfamily J, member 12
    Hs.200629  [show with all ESTs]
    Unigene Representative Sequence: NM_021012
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000583088(uc002gyv.1 uc021tss.1) ENST00000331718
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    Additional mRNA sequence: 

    AB182123.1 AF005214.1 AK024229.1 BC027982.1 FJ434338.2 L36069.1 

    2 DOTS entries:

    DT.303212  DT.100750085 

    20 AceView cDNA sequences:

    AB182123 BX279845 BE550570 CD673578 AW299543 NM_021012 AI916525 BE783053 
    F29406 BC027982 BM692647 AW299888 BV189339 BX387181 BE552277 AF005214 
    L36069 AW297073 BX345071 BG332575 

    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™, 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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    KCNJ12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATTTTCAA
    KCNJ12 Expression
    About this image


    KCNJ12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Skeletal Muscle (Muscoskeletal System)
    KCNJ12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNJ12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.200629
        Pathway & Disease-focused RT2 Profiler PCR Arrays including KCNJ12: 
              Neuronal Ion Channels in human mouse rat
              Cardiotoxicity in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ12

    (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 animals.

    Orthologs for KCNJ12 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnj121 , 5 potassium inwardly-rectifying channel, subfamily J, more1, 5 89.54(n)1
    97.42(a)1
      11 (37.96 cM)5
    165151  NM_010603.61  NP_034733.41 
     610225645 
    chicken
    (Gallus gallus)
    Aves KCNJ121 potassium inwardly-rectifying channel, subfamily J, more 76.35(n)
    86.89(a)
      427662  XM_004945169.1  XP_004945226.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNJ126
    potassium inwardly-rectifying channel, subfamily J...
    81(a)
    1 ↔ 1
    GL343385.1(938933-940252)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004960921 ATP-sensitive inward rectifier potassium channel 12-like 70.33(n)
    83.77(a)
      100496092  XM_004917843.1  XP_004917900.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5691461 ATP-sensitive inward rectifier potassium channel 12-like 74.42(n)
    79.53(a)
      569146  XM_005162907.1  XP_005162964.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ir3
    Irk21
    inward rectifier potassium channel3
    Inwardly rectifying potassium channel 21
    52(a)
    (best of 3)3
    56.46(n)1
    49.44(a)1
      94E43
    427701  NM_001170229.11  NP_001163700.11 
    worm
    (Caenorhabditis elegans)
    Secernentea irk-21 , 3 potassium channel3
    irk-21
    49(a)
    (best of 2)3
    54.18(n)1
    51.36(a)1
      X(739153-745460)3
    1916951  NM_001270048.11  NP_001256977.11 


    ENSEMBL Gene Tree for KCNJ12 (if available)
    TreeFam Gene Tree for KCNJ12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNJ12 gene
    KCNJ42  KCNJ92  KCNJ162  KCNJ82  KCNJ12  KCNJ152  KCNJ52  KCNJ62  
    KCNJ22  KCNJ102  KCNJ142  KCNJ32  KCNJ112  
    16 SIMAP similar genes for KCNJ12 using alignment to 1 protein entry:     IRK12_HUMAN:
    KCNJ18    kcnj12x    KCNJ2    KCNJ4    KCNJ5    KCNJ14
    KCNJ11    KCNJ6    KCNJ9    KCNJ3    KCNJ8    KCNJ15
    KCNJ1    KCNJ16    KCNJ10    KCNJ13

    Find genes that share paralogs with KCNJ12           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KCNJ12
    PGOHUM00000237325


    (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 KCNJ12 (see all 1540)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs16121761,2
    C,F,A,Huntested121319767(-) TTGGCA/C/GCTGGG 2 S R mis1 ese39MN WA NA CSA 204
    rs728466701,2
    C,Funtested121319845(+) CAGGAC/TGGCCG 2 D syn16Minor allele frequency- T:0.40NA WA CSA 20
    rs739799021,2
    C,Funtested121319868(+) CCTCAG/TCCCCC 2 S I mis18Minor allele frequency- T:0.46WA NA CSA 22
    rs733081721,2
    C,F--21277752(+) CTGTCG/AGAATC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1460827591,2
    --21277772(+) GAGGAG/TCCCTG 1 -- us2k10--------
    rs1835187121,2
    --21277992(+) TCACTC/TGGAGG 1 -- us2k10--------
    rs99002891,2
    C,F--21278078(+) CACAGT/CGTGCC 1 -- us2k1 tfbs38Minor allele frequency- C:0.21NA WA EA 368
    rs791416091,2
    F--21278098(+) AGGGTG/AGGGGC 1 -- us2k11Minor allele frequency- A:0.06WA 118
    rs1864011851,2
    --21278239(+) TCCTTC/TATCTG 1 -- us2k10--------
    rs1908166311,2
    --21278313(+) TGGGTA/CCATAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCNJ12 (21279509 - 21323179 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNJ12 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660756CNV Deletion23128226
    esv2715760CNV Deletion23290073
    esv2715759CNV Deletion23290073
    esv2715761CNV Deletion23290073
    esv2498808CNV Deletion19546169
    esv2262583CNV Deletion18987734
    esv7290CNV Loss19470904
    nsv526270CNV Loss19592680
    nsv112112CNV Loss16902084
    nsv512481CNV Loss21212237

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNJ12
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNJ12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602323    OMIM disorders: --

    3 diseases for KCNJ12:    
    About MalaCards
    lens subluxation    bartter disease    hypokalemic periodic paralysis

    4 diseases from the University of Copenhagen DISEASES database for KCNJ12:
    Hypokalemic periodic paralysis     Lens subluxation     Hyperinsulinemic hypoglycemia     Bartter disease

    Find genes that share disorders with KCNJ12           About GenesLikeMe

    Genetic Association Database (GAD): KCNJ12

    Export disorders for KCNJ12 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 KCNJ12 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with KCNJ12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of human Kir2.2 (KCNJ12) gene encoding functional inward rectifier potassium channel in both mammalian cells and Xenopus oocytes. (PubMed id 12417321)1, 2, 3, 9 Kaibara M.... Taniyama K. (FEBS Lett. 2002)
    2. Cloning and functional expression of an inwardly rectifying K+ channel from human atrium. (PubMed id 7859381)1, 2, 3 Wible B.A.... Brown A.M. (Circ. Res. 1995)
    3. Direct and specific activation of human inward rectifier K+ channels by membrane phosphatidylinositol 4,5-bisphosphate. (PubMed id 20921230)1, 2 D'Avanzo N.... Nichols C.G. (J. Biol. Chem. 2010)
    4. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (Nature 2010)
    5. 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)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. An alternate promoter directs expression of a truncated, muscle- specific isoform of the human ankyrin 1 gene. (PubMed id 9430667)1, 2 Gallagher P.G. and Forget B.G. (J. Biol. Chem. 1998)
    8. Kir2.2v: a possible negative regulator of the inwardly rectifying K+ channel Kir2.2. (PubMed id 8647284)1, 2 Namba N.... Seino S. (FEBS Lett. 1996)
    9. Functional expression of Kir2.x in human aortic endothelial cells: the dominant role of Kir2.2. (PubMed id 15958527)1, 9 Fang Y....Levitan I. (Am. J. Physiol., Cell Physiol. 2005)
    10. The inwardly rectifying potassium channel subunit Kir2.2v (KCNJN1) maps to 17p11.2--&gt;p11.1. (PubMed id 9533018)1, 9 Namba N....Seino Y. (Cytogenet. Cell Genet. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 3768 HGNC: 6258 AceView: KCNJ12 Ensembl:ENSG00000184185 euGenes: HUgn3768
    ECgene: KCNJ12 Kegg: 3768 H-InvDB: KCNJ12

    (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 KCNJ12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KCNJ12 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNJ12 gene:
    Search GeneIP for patents involving KCNJ12

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



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