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KCNK3 Gene

protein-coding   GIFtS: 65
GCID: GC02P026827

Potassium Channel, Subfamily K, Member 3

  See KCNK3-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 Channel, Subfamily K, Member 31 2     TASK-12
TASK2 3 5     TBAK12
Acid-Sensitive Potassium Channel Protein TASK-12 3     Acid-Sensitive Potassium Channel Protein TASK2
Two Pore K(+) Channel KT3.12 3     Cardiac Potassium Channel2
Two Pore Potassium Channel KT3.12 3     Potassium Channel Subfamily K Member 32
TWIK-Related Acid-Sensitive K(+) Channel 12 3     Potassium Inwardly-Rectifying Channel, Subfamily K, Member 32
PPH42 5     TWIK-Related Acid-Sensitive K+ Channel2
K2p3.12     Two P Domain Potassium Channel2
OAT12     TASK13

External Ids:    HGNC: 62781   Entrez Gene: 37772   Ensembl: ENSG000001713037   OMIM: 6032205   UniProtKB: O146493   

Export aliases for KCNK3 gene to outside databases

Previous GC identifers: GC02P026836 GC02P027008 GC02P026890 GC02P026654


(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 KCNK3 Gene:
This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P
domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH
and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is
activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots,
there is currently no sequence available to confirm transcript variants for this gene. (provided by RefSeq, Aug
2008)

GeneCards Summary for KCNK3 Gene:
KCNK3 (potassium channel, subfamily K, member 3) is a protein-coding gene. Diseases associated with KCNK3 include pulmonary hypertension, primary, 4, and central sleep apnea. GO annotations related to this gene include protein C-terminus binding and protein homodimerization activity. An important paralog of this gene is KCNK15.

UniProtKB/Swiss-Prot: KCNK3_HUMAN, O14649
Function: pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results
from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external
potassium concentration is low. When external potassium concentration is high, current is inward

Gene Wiki entry for KCNK3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNK3 gene promoter:
         GR   NF-1/L   NF-1   NRSF form 1   GR-beta   NRSF form 2   AREB6   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNK3 promoter sequence
   Search Chromatin IP Primers for KCNK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNK3


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

Entrez Gene cytogenetic band: 2p23   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23

KCNK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNK3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P026827:  view genomic region     (about GC identifiers)

Start:
26,915,581 bp from pter      End:
26,956,288 bp from pter
Size:
40,708 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: KCNK3_HUMAN, O14649 (See protein sequence)
Recommended Name: Potassium channel subfamily K member 3  
Size: 394 amino acids; 43518 Da
Miscellaneous: Inhibited by external acidification. Activated by halothane and isoflurane
Secondary accessions: Q53SU2

Explore the universe of human proteins at neXtProt for KCNK3: NX_O14649

Explore proteomics data for KCNK3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn53
  • Modification sites at PhosphoSitePlus

  • See KCNK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002237.1  
    ENSEMBL proteins: 
     ENSP00000306275  
    Reactome Protein details: O14649

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: K2P3.1
    Two-P potassium channels

    4 InterPro protein domains:
     IPR005406 KCNK3
     IPR003280 2pore_dom_K_chnl
     IPR013099 2pore_dom_K_chnl_dom
     IPR003092 2pore_dom_K_chnl_TASK

    Graphical View of Domain Structure for InterPro Entry O14649

    ProtoNet protein and cluster: O14649

    4 Blocks protein domains:
    IPB003092 TASK K+ channel signature
    IPB003280 Two pore domain K+ channel signature
    IPB005406 TASK-1 K+ channel signature
    IPB013099 Ion transport 2


    UniProtKB/Swiss-Prot: KCNK3_HUMAN, O14649
    Similarity: Belongs to the two pore domain potassium channel (TC 1.A.1.8) family


    Find genes that share domains with KCNK3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNK3_HUMAN, O14649
    Function: pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results
    from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external
    potassium concentration is low. When external potassium concentration is high, current is inward

         Genatlas biochemistry entry for KCNK3:
    potassium non voltage-gated channel inwardly rectifying,subfamily K,member 3

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity IMP12198146
    GO:0005252open rectifier potassium channel activity IEA--
    GO:0005267potassium channel activity TAS9312005
    GO:0005515protein binding ----
    GO:0008022protein C-terminus binding IEA--
         
    Find genes that share ontologies with KCNK3           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kcnk3):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  homeostasis/metabolism  nervous system 
     no phenotypic analysis  respiratory system 

    Find genes that share phenotypes with KCNK3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for KCNK3: Kcnk3tm1.1Daba Kcnk3tm1Sgb

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCNK3_HUMAN, O14649: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9312005
    GO:0016020membrane ----

    Find genes that share ontologies with KCNK3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNK3 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
    5Potassium Channels
    Potassium Channels0.43
    Tandem pore domain potassium channels0.00
    TWIK-releated acid-sensitive K+ channel (TASK)0.00


    Find genes that share SuperPaths with KCNK3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KCNK3 (see all 13)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Hepatic ABC Transporters
    PKA Signaling
    Sweet Taste Signaling

    1 BioSystems Pathway for KCNK3
        Nicotine Activity on Dopaminergic Neurons

    1 Reactome Pathway for KCNK3
        TWIK-releated acid-sensitive K+ channel (TASK)

    2 PharmGKB Pathways for KCNK3
        Antiarrhythmic Pathway, Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNK3
    Interactions:

        GeneGlobe Interaction Network for KCNK3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for KCNK3 (O146492, 3 ENSP000003062754) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-8006209 MINT-15089 MINT-15088 MINT-8006231 I2D: score=4 STRING: ENSP00000300161
    S100A10P609033, ENSP000003577994I2D: score=3 STRING: ENSP00000357799
    SFNP319473, ENSP000003409894I2D: score=1 STRING: ENSP00000340989
    YWHAEP622583, ENSP000002643354I2D: score=1 STRING: ENSP00000264335
    COPB1P536183, ENSP000002499234I2D: score=3 STRING: ENSP00000249923
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport TAS9312005
    GO:0007268synaptic transmission TAS--
    GO:0007420brain development IEA--
    GO:0034220ion transmembrane transport IMP12198146
    GO:0042493response to drug IEA--

    Find genes that share ontologies with KCNK3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KCNK3 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 KCNK3    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

    2 IUPHAR Ligands for KCNK3 (K2P3.1)    About this table
    LigandTypeActionAffinityPubmed IDs
    halothane
    ActivatorNone--
    anandamide
    InhibitorNone--

    7 Novoseek inferred chemical compound relationships for KCNK3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutaric acid 65.7 2 17353191 (1)
    potassium 61.8 7 9721223 (1), 11886861 (1), 11165377 (1), 16837582 (1) (see all 6)
    arachidonic acid 39.2 1 11165377 (1)
    lysine 35.1 2 15284350 (1)
    histidine 29.7 1 15284350 (1)
    glutamate 7.59 2 15284350 (1)
    arginine 3.41 1 17353191 (1)



    Find genes that share compounds with KCNK3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNK3 gene: 
    NM_002246.2  

    Unigene Cluster for KCNK3:

    Potassium channel, subfamily K, member 3
    Hs.645288  [show with all ESTs]
    Unigene Representative Sequence: NM_002246
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000302909(uc002rhn.2)
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    Additional mRNA sequence: 

    AF006823.1 AF065163.1 BC140701.1 

    2 DOTS entries:

    DT.80102076  DT.100689298 

    Selected AceView cDNA sequences (see all 139):

    BF970101 BM052871 BG911236 AV710944 CK903866 BI042452 BF434972 AA349310 
    BQ286091 T48557 BU076210 BM052629 W40513 CK903865 BX338384 BU072522 
    BU072252 BU072226 BF515682 BM353741 BI117661 CA950669 BM353468 BM471814 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCNK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTCACGAC
    KCNK3 Expression
    About this image


    KCNK3 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
     
     Adipose (Muscoskeletal System)    fully expand to see all 4 entries
             Thoracic Perivascular Adipose
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             His Bundle Cells Bundle of His
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
             Retina
     
     Neurons
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             Cerebellum
    KCNK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNK3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.645288

    UniProtKB/Swiss-Prot: KCNK3_HUMAN, O14649
    Tissue specificity: Widespread expression in adult. Strongest expression in pancreas and placenta. Lower
    expression in brain, lung, prostate, heart, kidney, uterus, small intestine and colon

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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 KCNK3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnk31 , 5 potassium channel, subfamily K, member 31, 5 92.13(n)1
    91.37(a)1
      5 (16.68 cM)5
    165271  NM_010608.21  NP_034738.11 
     305881705 
    chicken
    (Gallus gallus)
    Aves KCNK91 potassium channel, subfamily K, member 9 83.16(n)
    87.76(a)
      428382  XM_003641055.2  XP_003641103.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNK36
    potassium channel, subfamily K, member 3
    86(a)
    1 ↔ 1
    GL343824.1(996-1925)
    zebrafish
    (Danio rerio)
    Actinopterygii kcnk31 potassium channel, subfamily K, member 3 71.5(n)
    74.87(a)
      561866  NM_001030162.1  NP_001025333.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96373 inward rectifier potassium channel 54(a)
    (best of 2)
      87F7   --
    worm
    (Caenorhabditis elegans)
    Secernentea twk-233 Expression: neurons, muscle 58(a)
    (best of 2)
      II(2684746-2686974)   --


    ENSEMBL Gene Tree for KCNK3 (if available)
    TreeFam Gene Tree for KCNK3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNK3 gene
    KCNK152  KCNK52  KCNK162  KCNK122  KCNK92  KCNK62  KCNK22  KCNK102  
    KCNK72  KCNK172  KCNK42  KCNK132  KCNK12  
    2 SIMAP similar genes for KCNK3 using alignment to 2 protein entries:     KCNK3_HUMAN (see all proteins):
    KCNK15    KCNK9

    Find genes that share paralogs with KCNK3           About GenesLikeMe



    (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 KCNK3 (see all 828)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0701274
    Pulmonary hypertension, primary, 4 (PPH4)4--see VAR_0701272 G R mis40--------
    VAR_0701304
    Pulmonary hypertension, primary, 4 (PPH4)4--see VAR_0701302 G D mis40--------
    VAR_0701284
    Pulmonary hypertension, primary, 4 (PPH4)4--see VAR_0701282 E K mis40--------
    VAR_0701314
    Pulmonary hypertension, primary, 4 (PPH4)4--see VAR_0701312 V L mis40--------
    VAR_0701294
    Pulmonary hypertension, primary, 4 (PPH4)4--see VAR_0701292 Y C mis40--------
    VAR_0701264
    Pulmonary hypertension, primary, 4 (PPH4)4--see VAR_0701262 T K mis40--------
    rs116920131,2
    H--26913655(+) GAGGGA/GGGGGG 1 -- us2k1 tfbs3 trp30--------
    rs1859671081,2
    --26913782(+) AGACGC/TGGGTA 1 -- us2k10--------
    rs1427179521,2
    --26913926(+) ATTCTC/TTACAT 1 -- us2k10--------
    rs7366991,2
    C,F,A,H--26913930(+) TCTACA/GTTGCC 1 -- us2k18Minor allele frequency- G:0.33NA WA EA 368

    HapMap Linkage Disequilibrium report for KCNK3 (26915581 - 26956288 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for KCNK3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv989007CNV Insertion20482838
    nsv508833CNV Insertion20534489
    nsv2653CNV Insertion18451855
    nsv2652CNV Insertion18451855
    esv1018822CNV Insertion17803354
    esv26532CNV Loss19812545
    nsv523435CNV Loss19592680
    dgv4071n71CNV Loss21882294
    nsv522805CNV Loss19592680

    Human Gene Mutation Database (HGMD): KCNK3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNK3
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNK3

    (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: 603220   
    OMIM disorders: 615344  
    UniProtKB/Swiss-Prot: KCNK3_HUMAN, O14649
  • Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]: A rare disorder characterized by plexiform
    lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary
    arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and
    it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare,
    cases secondary to known etiologies are more common and include those associated with the appetite-suppressant
    drugs. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for KCNK3:    
    About MalaCards
    pulmonary hypertension, primary, 4    central sleep apnea    primary pulmonary hypertension    sleep apnea
    heritable pulmonary arterial hypertension

    1 disease from the University of Copenhagen DISEASES database for KCNK3:
    Central sleep apnea

    Find genes that share disorders with KCNK3           About GenesLikeMe

    Genetic Association Database (GAD): KCNK3
    Human Genome Epidemiology (HuGE) Navigator: KCNK3 (1 document)

    Export disorders for KCNK3 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 KCNK3 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with KCNK3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TASK, a human background K+ channel to sense external pH variations near physiological pH. (PubMed id 9312005)1, 2, 3 Duprat F.... Lazdunski M. (EMBO J. 1997)
    2. TASK-5, a novel member of the tandem pore K+ channel family. (PubMed id 11680614)1, 2, 9 Ashmole I.... Stanfield P.R. (Pflugers Arch. 2001)
    3. Mapping of human potassium channel genes TREK-1 (KCNK2) and TASK (KCNK3) to chromosomes 1q41 and 2p23. (PubMed id 9721223)1, 3, 9 Lesage F. and Lazdunski M. (Genomics 1998)
    4. A novel channelopathy in pulmonary arterial hypertension. (PubMed id 23883380)1, 2 Ma L....Chung W.K. (N. Engl. J. Med. 2013)
    5. International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels. (PubMed id 16382106)1, 3 Goldstein S.A....Rajan S. (Pharmacol. Rev. 2005)
    6. Association between anorexia nervosa and the hsKCa3 gene: a family-based and case control study. (PubMed id 11803450)1, 4 Koronyo-Hamaoui M....Gak E. (Mol. Psychiatry 2002)
    7. Proton block and voltage gating are potassium-dependent in the cardiac leak channel Kcnk3. (PubMed id 10748056)1, 2 Lopes C.M.B....Goldstein S.A.N. (J. Biol. Chem. 2000)
    8. Inhalational anesthetics activate two-pore-domain background K+ channels. (PubMed id 10321245)1, 2 Patel A.J.... Lazdunski M. (Nat. Neurosci. 1999)
    9. Interaction with 14-3-3 proteins promotes functional expression of the potassium channels TASK-1 and TASK-3. (PubMed id 12433946)1, 9 Rajan S....Daut J. (J. Physiol. (Lond.) 2002)
    10. Modulation of TASK-1 (Kcnk3) and TASK-3 (Kcnk9) potassium channels: volatile anesthetics and neurotransmitters share a molecular site of action. (PubMed id 11886861)1, 9 Talley E.M. and Bayliss D.A. (J. Biol. Chem. 2002)

    (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: 3777 HGNC: 6278 AceView: KCNK3 Ensembl:ENSG00000171303 euGenes: HUgn3777
    ECgene: KCNK3 H-InvDB: KCNK3

    (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 KCNK3 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 KCNK3 gene:
    Search GeneIP for patents involving KCNK3

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



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