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

KCNK9 Gene

protein-coding   GIFtS: 62
GCID: GC08M140693

Potassium Channel, Subfamily K, Member 9

  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 Channel, Subfamily K, Member 91 2     TWIK-Related Acid-Sensitive K(+) Channel 32 3
TASK32 3 5     K2p9.12
Acid-Sensitive Potassium Channel Protein TASK-32 3     KT3.22
Two Pore K(+) Channel KT3.22 3     TASK-32
Two Pore Potassium Channel KT3.22 3     Potassium Channel Subfamily K Member 92

External Ids:    HGNC: 62831   Entrez Gene: 513052   Ensembl: ENSG000001694277   OMIM: 6058745   UniProtKB: Q9NPC23   

Export aliases for KCNK9 gene to outside databases

Previous GC identifers: GC08M139585 GC08M140782 GC08M140309 GC08M140595 GC08M135936


(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 KCNK9 Gene:
This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and
functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed
in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the
maternal allele. A mutation in this gene was associated with Birk-Barel mental retardation dysmorphism syndrome.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep 2013)

GeneCards Summary for KCNK9 Gene: 
KCNK9 (potassium channel, subfamily K, member 9) is a protein-coding gene. Diseases associated with KCNK9 include fetal alcohol spectrum disorder, and birk-barel syndrome, and among its related super-pathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics and Melatonin Signaling. GO annotations related to this gene include protein homodimerization activity and potassium channel activity. An important paralog of this gene is KCNK15.

UniProtKB/Swiss-Prot: KCNK9_HUMAN, Q9NPC2
Function: pH-dependent, voltage-insensitive, background potassium channel protein

Gene Wiki entry for KCNK9 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_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNK9 gene promoter:
         NF-1   NF-1/L   GCNF   MyoD   E47   CREB   deltaCREB   GCNF-1   COMP1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNK9 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNK9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNK9


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

KCNK9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNK9 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M140693:  view genomic region     (about GC identifiers)

Start:
140,613,081 bp from pter      End:
140,715,299 bp from pter
Size:
102,219 bases      Orientation:
minus strand

(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: KCNK9_HUMAN, Q9NPC2 (See protein sequence)
Recommended Name: Potassium channel subfamily K member 9  
Size: 374 amino acids; 42264 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Miscellaneous: Inhibited by phorbol 12-myristate 13-acetate (PMA). TASK-3 current is strongly decreased in the
presence of an extracellular pH inferior to 7.0
Miscellaneous: Overexpressed in a high proportion of breast cancers. May confer resistance to growth factor
deprivation and hypoxia, thereby promoting tumor cell survival in poorly oxygenated areas of solid tumors
6/14 PDB 3D structures from and Proteopedia for KCNK9 (see all 14):
3P1N (3D)        3P1O (3D)        3P1P (3D)        3P1Q (3D)        3P1R (3D)        3P1S (3D)    
Secondary accessions: Q2M290 Q540F2

Explore the universe of human proteins at neXtProt for KCNK9: NX_Q9NPC2

Explore proteomics data for KCNK9 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NPC2

  • KCNK9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNK9 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001269463.1  NP_057685.1  

    ENSEMBL proteins: 
     ENSP00000429847   ENSP00000430676   ENSP00000302166  
    Reactome Protein details: Q9NPC2
    Human Recombinant Protein Products for KCNK9: 
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    Cloud-Clone Corp. Proteins for KCNK9 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008021synaptic vesicle IEA--
    GO:0016020membrane NAS--
    GO:0016021integral to membrane IEA--

    KCNK9 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
    KCNK: Voltage-gated ion channels / Potassium channels, Two-P

    IUPHAR Guide to PHARMACOLOGY protein family classification: K2P9.1 
    Two-P potassium channels

    5 InterPro protein domains:
     IPR003280 2pore_dom_K_chnl
     IPR022306 2pore_dom_K_chnl_TASK/TWIK
     IPR005407 2pore_dom_K_chnl_TASK3
     IPR003092 2pore_dom_K_chnl_TASK
     IPR013099 Ion_trans_2

    Graphical View of Domain Structure for InterPro Entry Q9NPC2

    ProtoNet protein and cluster: Q9NPC2

    4 Blocks protein domains:
    IPB003092 TASK K+ channel signature
    IPB003280 Two pore domain K+ channel signature
    IPB005407 TASK-3 K+ channel signature
    IPB013099 Ion transport 2


    UniProtKB/Swiss-Prot: KCNK9_HUMAN, Q9NPC2
    Similarity: Belongs to the two pore domain potassium channel (TC 1.A.1.8) family


    KCNK9 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: KCNK9_HUMAN, Q9NPC2
    Function: pH-dependent, voltage-insensitive, background potassium channel protein

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005244voltage-gated ion channel activity IEA--
    GO:0005267potassium channel activity NAS--
    GO:0042803protein homodimerization activity IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    KCNK9 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for KCNK9:
     Decreased Tat-dependent transc  Decreased p24 protein expressi  Increased gamma-H2AX phosphory  Increased resistance to MDM2 i 

         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Kcnk9):
     cardiovascular system  endocrine/exocrine gland  homeostasis/metabolism  nervous system  no phenotypic analysis 
     normal  respiratory system 

    KCNK9 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KCNK9: Kcnk9tm1Sgb Kcnk9tm1.1Fles Kcnk9tm1.1Daba

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNK9 
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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 KCNK9 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44
    Nicotine Activity on Dopaminergic Neurons0.44
    2Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Bitter Taste Signaling0.44
    Melatonin Signaling0.72
    Sperm Motility0.37
    Cellular Effects of Sildenafil0.46
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    4Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    5Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    MODY (Maturity-Onset Diabetes of Young)0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KCNK9
        Potassium transporters- inward current

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KCNK9 (see all 13)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Hepatic ABC Transporters
    PKA Signaling
    Sweet Taste Signaling

    1 BioSystems Pathway for KCNK9
        Nicotine Activity on Dopaminergic Neurons

    4        Reactome Pathways for KCNK9
        Potassium Channels
    TWIK-releated acid-sensitive K+ channel (TASK)
    Neuronal System
    Tandem pore domain potassium channels

    1 PharmGKB Pathway for KCNK9
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics


    KCNK9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNK9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for KCNK9 (Q9NPC23 ENSP000003021664) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319473, ENSP000003409894I2D: score=1 STRING: ENSP00000340989
    YWHAEP622583, ENSP000002643354I2D: score=1 STRING: ENSP00000264335
    YWHABP319463, ENSP000003001614I2D: score=1 STRING: ENSP00000300161
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    YWHAHQ049173, ENSP000002489754I2D: score=1 STRING: ENSP00000248975
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport NAS11042359
    GO:0007268synaptic transmission TAS--
    GO:0071805potassium ion transmembrane transport ----
    GO:0090102cochlea development IEA--

    KCNK9 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

    KCNK9 for compounds           About GeneDecksing

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

    Compounds for KCNK9 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Cesium chloridePotassium channel blocker; neuroprotective[7647-17-8]
    YS-035 hydrochlorideInhibits K+ outward/pacemaker current[33978-72-2]
    BL 1249Putative K2P2.1 (TREK-1) channel opener[18200-13-0]
    DMP 543K+ channel blocker and potent ACh release enhancer[160588-45-4]
    Tetraethylammonium chlorideNon-selective K+ channel blocker[56-34-8]

    2 DrugBank Compounds for KCNK9    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Doxapram-- 309-29-5targetinhibitor7617294 1667613 17227289
    Halothane2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)151-67-7targetbinder20217349 20519544

    3 IUPHAR Ligands for KCNK9 (K2P9.1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    halothane
    ActivatorNone--
    ruthenium red
    InhibitorNone--
    anandamide
    InhibitorNone--

    6 Novoseek inferred chemical compound relationships for KCNK9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 64.5 11 12433946 (2), 11886861 (1), 12782791 (1), 16837582 (1) (see all 7)
    ruthenium 40.2 1 16513667 (1)
    lysine 18 3 15284350 (1), 16513667 (1)
    glutamate 11.8 4 16837582 (1), 15284350 (1), 16513667 (1)
    alanine 7.64 3 15284350 (1), 15781965 (1)
    calcium 0 1 16864570 (1)

    Search CenterWatch for drugs/clinical trials and news about KCNK9

    (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,
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    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 KCNK9 gene (2 alternative transcripts): 
    NM_001282534.1  NM_016601.2  

    Unigene Cluster for KCNK9:

    Potassium channel, subfamily K, member 9
    Hs.493037  [show with all ESTs]
    Unigene Representative Sequence: AK090707
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522317(uc003yve.1 uc003yvf.1) ENST00000523477 ENST00000523653
    ENST00000519923 ENST00000520439(uc003yvg.1) ENST00000303015
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    Additional mRNA sequence: 

    AF212829.1 AF248241.1 AF257080.1 AF279809.1 AK090707.1 AK095204.1 AY190605.1 BC034734.1 
    BC075079.2 BC075080.2 BC112063.1 BC112065.1 

    5 DOTS entries:

    DT.101970276  DT.99932762  DT.40122834  DT.410703  DT.40312590 

    24/44 AceView cDNA sequences (see all 44):

    NM_016601 BC034734 AF279809 BC075079 F10471 BF061574 F13494 BG575621 
    AA676876 AF212829 BC075080 BX092753 AK090707 AY190605 AF257080 AK094401 
    BE313755 CO247577 CO248626 AW085193 BX951565 CO248082 H49746 AF248241 

    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

    KCNK9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGGCACTC
    KCNK9 Expression
    About this image


    See KCNK9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNK9

    SOURCE GeneReport for Unigene cluster: Hs.493037

    UniProtKB/Swiss-Prot: KCNK9_HUMAN, Q9NPC2
    Tissue specificity: Mainly found in the cerebellum. Also found in adrenal gland, kidney and lung

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCNK9 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnk91 , 5 potassium channel, subfamily K, member 91, 5 73.82(n)1
    73.46(a)1
      15 (33.46 cM)5
    2236041  NM_001033876.11  NP_001029048.11 
     725121195 
    chicken
    (Gallus gallus)
    Aves LOC1008595451 potassium channel subfamily K member 9-like 83.42(n)
    90.91(a)
      100859545  XM_003640857.1  XP_003640905.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNK96
    Uncharacterized protein
    85(a)
    1 ↔ 1
    4(16041507-16127709)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.140392 Transcribed sequence with moderate similarity to protein more 82.45(n)    BX745213.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7997041 novel protein similar to vertebrate potassium channel, more 78.52(n)
    81.28(a)
      799704  NM_001128549.1  NP_001122021.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96373
    Task71
    inward rectifier potassium channel3
    CG9361-PA1
    57(a)
    (best of 2)3
    57.56(n)1
    52.67(a)1
      87F73
    411251  NM_141634.21  NP_649891.11 
    worm
    (Caenorhabditis elegans)
    Secernentea twk-233 Expression: neurons, muscle 55(a)
    (best of 2)
      II(2684746-2686974)   --


    ENSEMBL Gene Tree for KCNK9 (if available)
    TreeFam Gene Tree for KCNK9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNK9 gene
    KCNK152  KCNK52  KCNK162  KCNK32  KCNK122  KCNK62  KCNK22  KCNK102  
    KCNK72  KCNK172  KCNK42  KCNK132  KCNK12  
    3 SIMAP similar genes for KCNK9 using alignment to 1 protein entry:     KCNK9_HUMAN:
    KCNK15    KCNK3    KCNK16

    KCNK9 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) 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

    10/2074 SNPs in KCNK9 are shown (see all 2074)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0543734
    Birk-Barel mental retardation dysmorphism syndrome (BIBAS)4--see VAR_0543732 G R mis40--------
    rs1820224841,2
    --140624320(+) AGGGAA/GCAAAA 1 -- ds50010--------
    rs1433907631,2
    --140624454(+) GTGGAC/GAAATC 1 -- ds50010--------
    rs1483866701,2
    --140624502(+) CACTGC/TGTCAC 1 -- ds50010--------
    rs1872795431,2
    --140624522(+) ACTGAC/GAAGGC 1 -- ds50010--------
    rs801799561,2
    C--140624575(+) AAAGTA/GTAGCC 1 -- ds50012Minor allele frequency- G:0.08CSA WA 120
    rs1909163021,2
    --140624624(+) TATGAC/TGATGA 1 -- ds50010--------
    rs1807297671,2
    --140624677(+) CTTTGG/TGGGGG 1 -- ds50010--------
    rs1864565331,2
    --140624702(+) AGCCCA/GACGGG 1 -- ds50010--------
    rs1415121271,2
    C--140624705(+) CCGACA/GGGCTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KCNK9 (140613081 - 140715299 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for KCNK9 (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2737715CNV Deletion23290073
    esv2154233CNV Deletion18987734
    esv2737716CNV Deletion23290073
    esv1422449CNV Deletion17803354
    esv2737717CNV Deletion23290073
    esv2677546CNV Deletion23128226
    esv2661944CNV Deletion23128226
    esv2737719CNV Deletion23290073
    esv1065914CNV Insertion17803354
    nsv522721CNV Loss19592680


    Human Gene Mutation Database (HGMD): KCNK9
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing KCNK9
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNK9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605874   
    OMIM disorders: 612292  
    UniProtKB/Swiss-Prot: KCNK9_HUMAN, Q9NPC2
  • Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292]: A syndrome characterized by
    mental retardation, hypotonia, hyperactivity, and facial dysmorphism. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20 diseases for KCNK9:    About MalaCards
    fetal alcohol spectrum disorder    birk-barel syndrome    central sleep apnea    prosopagnosia
    childhood absence epilepsy    juvenile absence epilepsy    hyperaldosteronism    maturity-onset diabetes of the young
    sleep apnea    breast cancer    hypotonia    medulloblastoma
    mental retardation    alcoholism    cholera    hypoxia
    colorectal cancer    melanoma    neuronitis    hepatitis

    3 diseases from the University of Copenhagen DISEASES database for KCNK9:
    Birk-Barel syndrome     Central sleep apnea     Juvenile absence epilepsy

    KCNK9 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for KCNK9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    childhood absence epilepsy 71.1 1 11857586 (1)
    absence seizures 52.6 5 15781965 (3), 11857586 (2)
    acidosis 31.7 1 11042359 (1)

    Genetic Association Database (GAD): KCNK9
    Human Genome Epidemiology (HuGE) Navigator: KCNK9 (2 documents)

    Export disorders for KCNK9 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 KCNK9 gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with KCNK9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. KT3.2 and KT3.3, two novel human two-pore K(+) channels closely related to TASK-1. (PubMed id 11431495)1, 2, 9 Vega-Saenz de Miera E.... Rudy B. (2001)
    2. TASK-3, a novel tandem pore domain acid-sensitive K+ channel. An extracellular histidine as pH sensor. (PubMed id 10747866)1, 2, 9 Rajan S.... Derst C. (2000)
    3. Cloning, localisation and functional expression of a novel human, cerebellum specific, two pore domain potassium channel. (PubMed id 11042359)1, 2, 9 Chapman C.G.... Gloger I.S. (2000)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. (PubMed id 18678320)1, 2 Barel O.... Birk O.S. (2008)
    6. International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels. (PubMed id 16382106)1, 3 Goldstein S.A....Rajan S. (2005)
    7. 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)
    8. Genomic amplification and oncogenic properties of the KCNK9 potassium channel gene. (PubMed id 12676587)1, 2 Mu D.... Powers S. (2003)
    9. TASK-3, a new member of the tandem pore K(+) channel family. (PubMed id 10734076)1, 3 Kim Y....Kim D. (2000)
    10. Oncogenic potential of TASK3 (Kcnk9) depends on K+ channel function. (PubMed id 12782791)1, 9 Pei L....Hoey T. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51305 HGNC: 6283 AceView: KCNK9 Ensembl:ENSG00000169427 euGenes: HUgn51305
    ECgene: KCNK9 H-InvDB: KCNK9

    (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 KCNK9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNK9 gene:
    Search GeneIP for patents involving KCNK9

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



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    About This Section

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