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KCNJ16 Gene

protein-coding   GIFtS: 63
GCID: GC17P068071

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

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 161 2     BIR92
Inward Rectifier K(+) Channel Kir5.12 3     Inward Rectifier K+ Channel KIR5.12
Potassium Channel, Inwardly Rectifying Subfamily J Member 162 3     Inward Rectifier Potassium Channel 162
KIR5.12 5     

External Ids:    HGNC: 62621   Entrez Gene: 37732   Ensembl: ENSG000001538227   OMIM: 6057225   UniProtKB: Q9NPI93   

Export aliases for KCNJ16 gene to outside databases

Previous GC identifers: GC17P067826 GC17P071031 GC17P068535 GC17P068668 GC17P065583 GC17P063457


(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 KCNJ16 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, can form heterodimers with two other inward-rectifier type potassium channels. It may be involved in
the regulation of fluid and pH balance. Alternatively spliced transcript variants encoding the same protein have
been found for this gene. (provided by RefSeq, Jul 2012)

GeneCards Summary for KCNJ16 Gene:
KCNJ16 (potassium inwardly-rectifying channel, subfamily J, member 16) is a protein-coding gene. Diseases associated with KCNJ16 include body dysmorphic disorder, and pierre robin sequence. GO annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ4.

UniProtKB/Swiss-Prot: IRK16_HUMAN, Q9NPI9
Function: 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. KCNJ16
may be involved in the regulation of fluid and pH balance

summary for KCNJ16 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 KCNJ16 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:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNJ16 gene promoter:
         AP-1   FOXO3   C/EBPalpha   SRY   POU2F1   POU2F1a   FOXO3a   ARP-1   STAT3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCNJ16 promoter sequence
   Search Chromatin IP Primers for KCNJ16

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNJ16


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

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

KCNJ16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ16 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P068071:  view genomic region     (about GC identifiers)

Start:
68,049,570 bp from pter      End:
68,131,749 bp from pter
Size:
82,180 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IRK16_HUMAN, Q9NPI9 (See protein sequence)
Recommended Name: Inward rectifier potassium channel 16  
Size: 418 amino acids; 47949 Da
Subunit: Seems to form heterodimer with Kir4.1/KCNJ10 or Kir2.1/KCNJ2

Explore the universe of human proteins at neXtProt for KCNJ16: NX_Q9NPI9

Explore proteomics data for KCNJ16 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNJ16 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001257351.1  NP_061128.1  NP_733937.1  

    ENSEMBL proteins: 
     ENSP00000465646   ENSP00000465967   ENSP00000467568   ENSP00000465295   ENSP00000466132  
     ENSP00000465163   ENSP00000283936   ENSP00000376439   ENSP00000376438  
    Reactome Protein details: Q9NPI9

    KCNJ16 Human Recombinant Protein 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: Kir5.1
    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
     IPR008061 K_chnl_inward-rec_Kir5

    Graphical View of Domain Structure for InterPro Entry Q9NPI9

    ProtoNet protein and cluster: Q9NPI9

    2 Blocks protein domains:
    IPB001838 Inward rectifier K+ channel superfamily signature
    IPB008061 Kir5 inward rectifier K+ channel signature


    UniProtKB/Swiss-Prot: IRK16_HUMAN, Q9NPI9
    Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ16 subfamily


    KCNJ16 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IRK16_HUMAN, Q9NPI9
    Function: 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. KCNJ16
    may be involved in the regulation of fluid and pH balance

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity NAS11060447
         
    KCNJ16 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for KCNJ16:
     Decreased Wnt reporter activit  Increased G2M DNA content  Increased number of mitotic ce 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnj16):
     behavior/neurological  growth/size/body  homeostasis/metabolism  integument  nervous system 
     other  skeleton 

    KCNJ16 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KCNJ16: Kcnj16tm1Pess Kcnj16tm1Lex

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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidKCNJ16 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ16


    (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
    IRK16_HUMAN, Q9NPI9: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    golgi apparatus1

    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 NAS11060447
    GO:0016021integral component of membrane ----

    KCNJ16 for ontologies           About GeneDecksing


    (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 KCNJ16 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Inwardly 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
    Potassium transport channels0.00
    G protein gated Potassium channels0.82
    2GABA receptor activation
    GABA B receptor activation0.73
    GABA receptor activation0.73
    Activation of GABAB receptors0.73
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Potassium Channels
    Potassium Channels0.43
    5Salivary secretion
    Gastric acid secretion0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNJ16
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    3 Reactome Pathways for KCNJ16
        Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
    Potassium transport channels
    Activation of G protein gated Potassium channels


    1 Kegg Pathway  (Kegg details for KCNJ16):
        Gastric acid secretion


    KCNJ16 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNJ16: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KCNJ16

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for KCNJ16 (Q9NPI93 ENSP000002839364) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNJ2P632523, ENSP000002434574I2D: score=1 STRING: ENSP00000243457
    KCNJ10P785083, ENSP000003570684I2D: score=1 STRING: ENSP00000357068
    KCNJ15Q997123, ENSP000003316984I2D: score=1 STRING: ENSP00000331698
    DLG4P783523I2D: score=1 
    --ENSP000002938134STRING: ENSP00000293813
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport NAS11060447
    GO:0007268synaptic transmission TAS--
    GO:0071805potassium ion transmembrane transport NAS11060447

    KCNJ16 for ontologies           About GeneDecksing



    (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 KCNJ16 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 KCNJ16    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KCNJ16 gene (4 alternative transcripts): 
    NM_001270422.1  NM_018658.2  NM_170741.2  NM_170742.1  

    Unigene Cluster for KCNJ16:

    Potassium inwardly-rectifying channel, subfamily J, member 16
    Hs.463985  [show with all ESTs]
    Unigene Representative Sequence: NM_001270422
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000591891 ENST00000588112 ENST00000589377 ENST00000586462 ENST00000585558
    ENST00000587698 ENST00000587892 ENST00000283936(uc002jin.3) ENST00000392671(uc002jio.3 uc002jiq.3)
    ENST00000392670(uc002jip.3)
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    SwitchGear 3'UTR luciferase reporter plasmidKCNJ16 3' UTR sequence
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    Additional mRNA sequence: 

    AF153815.1 AF153816.1 AF153817.1 AF179353.1 AK225944.1 AK290799.1 BC033038.2 

    8 DOTS entries:

    DT.314490  DT.100747413  DT.95370381  DT.121011065  DT.121011080  DT.121011067  DT.75181134  DT.91858856 

    Selected AceView cDNA sequences (see all 107):

    NM_018658 AI151022 AA748747 AI363102 AI092303 N90543 AW614440 CB321900 
    BX092587 AF179353 AI650798 BF197355 AI470911 BU784888 AI419663 BE167251 
    NM_170742 BF194884 AF153816 AW611744 AW271344 AI253080 AI217331 AI672450 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ16 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f
    SP1:                                                        -           -                                                   
    SP2:                                -     -     -     -     -                                                               
    SP3:                                -     -     -     -     -           -           -                                       
    SP4:                                                                                                                        
    SP5:                                                        -           -           -                                       


    ECgene alternative splicing isoforms for KCNJ16

    (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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    KCNJ16 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAATAAACA
    KCNJ16 Expression
    About this image


    KCNJ16 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Ureteric Bud
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Floor Plate Cells Spinal Floor Plate
             Spinal Floor Plate
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte Precursor Cells Forebrain White Matter
             Midbrain dopaminergic-like neurons
     
     Neurons
             Midbrain dopaminergic-like neurons
     
     Thyroid (Endocrine System)
    KCNJ16 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNJ16 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.463985

    UniProtKB/Swiss-Prot: IRK16_HUMAN, Q9NPI9
    Tissue specificity: Highly expressed in kidney, pancreas and thyroid gland

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNJ16: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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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 animals.

    Orthologs for KCNJ16 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnj161 , 5 potassium inwardly-rectifying channel, subfamily J, more1, 5 84.45(n)1
    92.34(a)1
      11 (75.01 cM)5
    165171  NM_001252207.11  NP_001239136.11 
     1109680335 
    chicken
    (Gallus gallus)
    Aves KCNJ161 potassium inwardly-rectifying channel, subfamily J, more 71.38(n)
    76.61(a)
      427812  XM_004946241.1  XP_004946298.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNJ166
    potassium inwardly-rectifying channel, subfamily J...
    67(a)
    1 ↔ 1
    GL343258.1(2027364-2028638)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC042221.12   -- 73.94(n)    BC042221.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000014321 inward rectifier potassium channel 16-like 57.42(n)
    48.27(a)
      100001432  XM_001341392.5  XP_001341428.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Irk26
    Ir6
    Inwardly rectifying potassium channel
    32(a)
    27(a)
    many ↔ many
    many ↔ many
    3R(19339690-19345167)
    3R(18999595-19011364)


    ENSEMBL Gene Tree for KCNJ16 (if available)
    TreeFam Gene Tree for KCNJ16 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNJ16 gene
    KCNJ42  KCNJ92  KCNJ82  KCNJ12  KCNJ122  KCNJ152  KCNJ52  KCNJ62  
    KCNJ22  KCNJ102  KCNJ142  KCNJ32  KCNJ112  
    16 SIMAP similar genes for KCNJ16 using alignment to 6 protein entries:     IRK16_HUMAN (see all proteins):
    KCNJ12    KCNJ6    kcnj12x    KCNJ18    KCNJ5    KCNJ4
    KCNJ2    KCNJ1    KCNJ9    KCNJ11    KCNJ3    KCNJ14
    KCNJ10    KCNJ8    KCNJ15    KCNJ13

    KCNJ16 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), 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 KCNJ16 (see all 1514)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113203791,2
    C--68071984(+) TTAAC-/TTTTTT 3 -- int11Minor allele frequency- T:0.00NA 2
    rs615501331,2
    C--68072109(+) AAAGC-/TTTTTTT 3 -- int11Minor allele frequency- TT:0.00NA 2
    rs772773231,2
    C--68073816(+) CTGTG-/TTTTTTT 3 -- int10--------
    rs779019241,2
    --68073817(+) TGTGTG/TTTTTT 3 -- int11Minor allele frequency- T:0.50NA 2
    rs58217531,2
    C,F--68074496(+) CGCATA/-AAAAA 3 -- int1 trp33Minor allele frequency- -:0.50NA CSA 6
    rs668424291,2
    C--68087746(+) CACAT-/ACACACA 3 -- int10--------
    rs769590241,2
    --68087747(+) ACATAC/TACACA 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs3769333421,2
    --68092012(+) ATCCT-/CTTTTT 3 -- int10--------
    rs102212721,2
    C--68092013(+) ATCCtC/Tttttt 3 -- int1 trp37Minor allele frequency- T:0.07NA WA CSA 15
    rs575522101,2
    C--68096022(+) GATTT-/ATTT  
            
    GTGAT
    3 -- int10--------

    HapMap Linkage Disequilibrium report for KCNJ16 (68049570 - 68131749 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for KCNJ16:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666209CNV Deletion23128226
    dgv563e199CNV Deletion23128226
    nsv483015CNV Loss15286789
    nsv828096CNV Loss20364138
    nsv498875CNV Loss21111241
    nsv520048CNV Loss19592680
    nsv833528CNV Loss17160897
    nsv2131CNV Loss18451855
    nsv526271CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNJ16
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNJ16

    (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: 605722    OMIM disorders: --

    8 diseases for KCNJ16:    
    About MalaCards
    body dysmorphic disorder    pierre robin sequence    thyrotoxic periodic paralysis    meniere's disease
    menieres disease    sensorineural hearing loss    thyroiditis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for KCNJ16:
    Body dysmorphic disorder     Sensorineural hearing loss

    KCNJ16 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNJ16
    Human Genome Epidemiology (HuGE) Navigator: KCNJ16 (2 documents)

    Export disorders for KCNJ16 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 KCNJ16 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with KCNJ16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. (PubMed id 11240146)1, 2, 3, 9 Derst C.... Karschin A. (FEBS Lett. 2001)
    2. The human inward rectifier K(+) channel subunit kir5.1 (KCNJ16) maps to chromosome 17q25 and is expressed in kidney and pancreas. (PubMed id 11060447)1, 2, 9 Liu Y.... Swanson R. (Cytogenet. Cell Genet. 2000)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    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. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. (PubMed id 23362303)1 Wu J.H....Mozaffarian D. (Circ Cardiovasc Genet 2013)
    7. Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. (PubMed id 23704328)1 Fatemifar G....Evans D.M. (Hum. Mol. Genet. 2013)
    8. Genome-wide association study of chronic periodontitis in a general German population. (PubMed id 24024966)1 Teumer A....Kocher T. (J. Clin. Periodontol. 2013)
    9. Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3. (PubMed id 22863731)1 Cheung C.L....Kung A.W. (Nat. Genet. 2012)
    10. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1 Lango Allen H....Hirschhorn J.N. (Nature 2010)

    (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: 3773 HGNC: 6262 AceView: KCNJ16 Ensembl:ENSG00000153822 euGenes: HUgn3773
    ECgene: KCNJ16 Kegg: 3773 H-InvDB: KCNJ16

    (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 KCNJ16 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 KCNJ16 gene:
    Search GeneIP for patents involving KCNJ16

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



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