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KCNJ12 Gene

protein-coding   GIFtS: 56

GC17P021220
potassium inwardly-rectifying channel, subfamily J, member 12
(Previous names: potassium inwardly-rectifying channel, subfamily J, inhibitor 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: KCNJN1)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
FLJ14167 2
IRK2 1, 2, 3
KCNJN1 2, 3, 5
Kir2.2 1, 2
Kir2.2v 1, 2, 3
hIRK 2
hIRK1 1, 2
hkir2.2x 2
kcnj12x 2
Descriptions
ATP-sensitive inward rectifier potassium channel 12 2
Inward rectifier K(+) channel Kir2.2 3
Potassium channel, inwardly rectifying subfamily J member
12 3
potassium inwardly-rectifying channel, subfamily J,
inhibitor 1 1, 2
potassium inwardly-rectifying channel, subfamily J, member
12 2
External Ids
HGNC: 62581
Entrez Gene: 37682
UniProtKB: Q145003
Ensembl: ENSG000001841857
Search outside databases for aliases for KCNJ12 gene

Previous GC identifers: GC17P021500 GC17P022929 GC17P021184 GC17P021441 GC17P021259

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

EntrezGene summary for KCNJ12:
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]

UniProtKB/Swiss-Prot: IRK12_HUMAN, Q14500
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 and cesium

Gene Wiki entry for KCNJ12

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KCNJ12 gene  

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)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P021220:     (about GC identifiers)

Start:
21,220,292 bp from pter
End:
21,263,772 bp from pter
Size:
43,481 bases
Orientation:
plus strand
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

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)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: O43401 Q15756 Q8NG63

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_066292.2  

    ENSEMBL proteins: 
    ENSP00000328150 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Kir2.2)
    Human Recombinant Proteins from Abnova (KCNJ12)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    GO:0030315 T-tubule IEA--
    GO:0030425 dendrite IEA--
    GO:0043025 cell soma IEA--
    About this table

    Antibodies for KCNJ12: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of KCNJ12
    Sigma-Aldrich Antibodies for KCNJ12
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Kir2.2), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for KCNJ12

    Assays for KCNJ12: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/6 InterPro domains/families (see all 6 ):
     IPR013521 K_chnl_inward-rec_Kir_Cr2
     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


       GeneDecks  KCNJ12 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q14500

    ProtoNet protein and cluster: Q14500

    3 Blocks protein families:
    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
    Similarity: Belongs to the inward rectifier-type potassium channel family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KCNJ12)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNJ12)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_021012

                  Applied Biosystems Silencer® siRNAs for KCNJ12

                  Sigma-Aldrich siRNA and siRNA Panels for KCNJ12  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNJ12  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for KCNJ12
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_021012
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_021012
                                     untagged cDNA clone in CMV expression vector: NM_021012 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_021012

    UniProtKB/Swiss-Prot: IRK12_HUMAN, Q14500
    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 and cesium

    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

    1 MGI mutant phenotype (inferred from 1 allele(MGI details for Kcnj12):


    5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242 inward rectifier potassium channel activity TAS7859381
    GO:0005244 voltage-gated ion channel activity IEA--
    GO:0005515 protein binding IEA--
    GO:0008200 ion channel inhibitor activity TAS8647284
    GO:0015459 potassium channel regulator activity TAS8647284
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Millipore Pathways for KCNJ12
      inward current
      outward current

       GeneDecks  KCNJ12 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  KCNJ12 


    5/13 Interacting proteins for KCNJ12 (ENSP000003281503) via UniProtKB, MINT, and/or STRING (see all 13 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LIN7CENSP000002781933STRING (score=.986)
    DLG1ENSP000003457313STRING (score=.985)
    LIN7AENSP000002612033STRING (score=.984)
    APBA1ENSP000002653813STRING (score=.908)
    CASKENSP000003674053STRING (score=.908)
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0006813 potassium ion transport TAS7859381 8647284
    GO:0006936 muscle contraction TAS7859381
    GO:0008015 blood circulation NAS7859381
    GO:0008016 regulation of heart contraction TAS7859381
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Compounds for KCNJ12 available from Tocris Bioscience
    CompoundAction CAS number
    ZM 226600KATP channel opener[147695-92-9]
    MinoxidilK+ channel (KATP) opener[38304-91-5]
    PNU 37883 hydrochlorideVascular KATP channel blocker[57568-80-6]
    DiazoxideBlocks desensitization of AMPA receptors[364-98-7]
    Y-27152Prodrug of KATP channel opener Y-26763; orally active in vivo[127408-30-4]
    About this table


    1 Novoseek chemical compound relationship for KCNJ12 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 55.86 5 12417321 (2), 9533018 (1), 15276477 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KCNJ12)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNJ12)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_021012

                  Sigma-Aldrich siRNA and siRNA Panels for KCNJ12  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNJ12  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_021012  

    REFSEQ mRNAs for KCNJ12 gene: 

    NM_021012.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_021012  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_021012
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_021012
                                     untagged cDNA clone in CMV expression vector: NM_021012 

    20 AceView cDNA sequences:

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

    highest scoring ESTs for KCNJ12:

    L36069 AF005214 AI916525 AW297073 AW299543 AW299888 BC027982 BE550570 BE552277 BM692647 


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000331718  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    KCNJ12 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KCNJ12

    1 / 2 / 3

    7 probe-sets matching KCNJ12 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    34537_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 L36069 1.00 1.00 1.00 1

    232289_at2, 3 U133-B 1 1.00 1.00 -- -- BF237871 0.40 0.67 0.55 1

    207110_at2, 3 U133-A 1 1.00 1.00 -- -- NM_021012 0.60 1.00 0.82 1

    208567_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002244 0.20 1.00 0.72 1

    232289_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    207110_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    208567_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTATTTTCAA

    Expression variation in blood from EXPOLDB for KCNJ12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for KCNJ12 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    KCNJ121   -- potassium inwardly-rectifying channel, subfamily J, more 91.47(n)
    97.85(a)
    403760  XM_546667.2  XP_546667.2 
    chimpanzee
    (Pan troglodytes)
    KCNJ121   -- potassium inwardly-rectifying channel, subfamily J, more 98.77(n)
    98.15(a)
    746628  XM_001154349.1  XP_001154349.1 
    cow
    (Bos taurus)
    KCNJ121   -- potassium inwardly-rectifying channel, subfamily J, more 90.55(n)
    96.25(a)
    538479  NM_001024690.1  NP_001019861.1 
    rat
    (Rattus norvegicus)
    Kcnj121   -- potassium inwardly-rectifying channel, subfamily J, more 89.38(n)
    97.42(a)
    117052  NM_053981.1  NP_446433.1 
    mouse
    (Mus musculus)
    Kcnj121, 5 11 (34.15 cM)5
    potassium inwardly-rectifying channel, subfamily J, more1, 5 89.46(n)1
    97.19(a)1
    165151  NM_010603.41  NP_034733.21 
     AB0358895  AK0172995  (see all 11)
    About this table        Species with no ortholog for KCNJ12

    ENSEMBL Gene Tree for KCNJ12
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for KCNJ12 gene
    KCNJ42  KCNJ22  KCNJ142  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/770 NCBI SNPs in KCNJ12 are shown (see all 770 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 65)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs20025911,2
    A,C,F,H21263829(-) CAGCAC/TGCTGT 1 -- ng319Minor allele frequency- T:0.30EU EA WA 2306
    rs49858661,2
    A,C,F,H21259992(+) ACCAGA/GTCGAC 1 I/V mis111Minor allele frequency- G:0.49EU EA WA NA 972
    --
    rs72136081,2
    A,C,F,H21219882(+) GTGTGT/CACATG 1 -- ng514Minor allele frequency- C:0.30EU EA WA 418
    --
    rs17148641,2
    A,C,F21259714(-) CCACCG/AGGCAC 1 L/P mis1 ese31Minor allele frequency- A:0.50MN 184
    rs16577421,2
    A,C,H21259823(+) GCACAG/CACGCT 1 H/Q mis1 ese32Minor allele frequency- C:0.19MN WA 304
    --
    rs37520321,2
    C,F21259264(+) CAGCCG/AGGCCA 1 Q/R mis1 ese38Minor allele frequency- A:0.24EA NA EU WA 2050
    --
    rs99087071,2
    A,C21252504(+) GTACCA/GTGCCC 1 -- ut51 ese30--------
    --
    rs98894441,2
    A,C21252452(+) TCCAGC/TTGGTG 1 -- ut510--------
    --
    rs17149041,2
    A,C21252525(-) TTCTAC/TGTAAT 1 -- ut51 ese30--------
    --
    rs72188141,2
    A,C21220198(+) TAGGCG/TGGTGC 1 -- ng510--------
    About this table

    HapMap Linkage Disequilibrium images for KCNJ12 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 602323

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/30 PubMed articles for KCNJ12 gene (see all 30 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 3768 HGNC: 6258 AceView: KCNJ12 Ensembl:ENSG00000184185 euGenes: HUgn3768
    ECgene: KCNJ12 H-InvDB: KCNJ12
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for KCNJ12 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for KCNJ12:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for KCNJ12-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for KCNJ12 Antibodies for KCNJ12
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for KCNJ12 Browse small molecules at Sigma-Aldrich
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     Recombinant Proteins
    (Kir2.2)
     Antibodies (Kir2.2)
     Search OriGene for KCNJ12
     Tocris compounds for KCNJ12




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for KCNJ12

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