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

KCNJ12 Gene

protein-coding   GIFtS: 64
GCID: GC17P021532

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

(Previous names: potassium inwardly-rectifying channel, subfamily J, inhibitor...)
(Previous symbol: KCNJN1)
  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 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


(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 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 hypokalemic periodic paralysis, 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 ion channel inhibitor activity and potassium channel regulator 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KCNJ12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC17P021532:  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 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: 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
Subcellular location: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14500

  • KCNJ12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNJ12 Protein Expression
    REFSEQ proteins: NP_066292.2  
    ENSEMBL proteins: 
     ENSP00000463778   ENSP00000328150  
    Reactome Protein details: Q14500
    Human Recombinant Protein Products for KCNJ12: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KCNJ12 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    KCNJ12 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: Kir2.2 
    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


    KCNJ12 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity IDA--
         
    KCNJ12 for ontologies           About GeneDecksing


    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  hematopoietic system 
     homeostasis/metabolism  immune system  other 

    KCNJ12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnj12tm1Swz for KCNJ12

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNJ12 
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    (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 KCNJ12 About   (see all 8)                                                                                              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 KCNJ12
        Potassium transporters- inward current
    Potassium transporters- outward current

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

    5/12        Reactome Pathways for KCNJ12 (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         Kegg Pathway  (Kegg details for KCNJ12):
        Cholinergic synapse


    KCNJ12 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNJ12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/22 Interacting proteins for KCNJ12 (Q145003 ENSP000003281504) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    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
    About this table

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

    KCNJ12 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

    KCNJ12 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about KCNJ12 / IRK12

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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:

    BE550570 AW299543 BX279845 NM_021012 CD673578 AB182123 BC027982 AW299888 
    BM692647 BX387181 AI916525 BE552277 BV189339 F29406 BE783053 L36069 
    AF005214 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™, 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

    KCNJ12 expression in normal human tissues (normalized intensities)      KCNJ12 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             gastrocnemius   
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             cerebellum   

    See KCNJ12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNJ12

    SOURCE GeneReport for Unigene cluster: Hs.200629
        SABiosciences Expression via Pathway-Focused PCR Arrays including KCNJ12: 
              Neuronal Ion Channels in human mouse rat
              Cardiotoxicity in human mouse rat

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    In Situ
    Assay Products:
     

     
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KCNJ12 gene from 4/12 species (see all 12)    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 76.21(n)
    87.09(a)
      427662  XM_425235.2  XP_425235.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNJ126
    Uncharacterized protein
    81(a)
    1 ↔ 1
    GL343385.1(938933-940252)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5691461 ATP-sensitive inward rectifier potassium channel 12-like 74.42(n)
    79.53(a)
      569146  XM_692512.2  XP_697604.2 


    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)
    About This Section
    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

    KCNJ12 for paralogs           About GeneDecksing


    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) 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

    10/1540 SNPs in KCNJ12 are shown (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) 10/21 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

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

    11 diseases for KCNJ12:    About MalaCards
    lens subluxation    hypokalemic periodic paralysis    poliomyelitis    bartter disease
    hyperinsulinemic hypoglycemia    smith magenis syndrome    hyperinsulinism    hypoglycemia
    paralysis    endotheliitis    neuronitis

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

    KCNJ12 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for KCNJ12 gene, integrated from 9 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. (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. (1995)
    3. Direct and specific activation of human inward rectif ier K+ channels by membrane phosphatidylinositol 4,5-bisphosphate. (PubMed id 20921230)1, 2 D'Avanzo N....Nichols C.G. (2010)
    4. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (2010)
    5. International Union of Pharmacology. LIV. Nomenclatur e and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)1, 3 Kubo Y....Vandenberg C.A. (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. (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. (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. (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. (2005)
    10. The inwardly rectifying potassium channel subunit Kir2.2v (KCNJN1) maps to 17p11.2-->p11.1. (PubMed id 9533018)1, 9 Namba N....Seino Y. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3768 HGNC: 6258 AceView: KCNJ12 Ensembl:ENSG00000184185 euGenes: HUgn3768
    ECgene: KCNJ12 Kegg: 3768 H-InvDB: KCNJ12

    (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 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.)
    About This Section
    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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