Human Gene KCNK10 (uc001xwn.3)
  Description: Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 2, mRNA.
RefSeq Summary (NM_138317): The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008].
Transcript (Including UTRs)
   Position: hg19 chr14:88,646,452-88,789,593 Size: 143,142 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr14:88,651,879-88,789,142 Size: 137,264 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:88,646,452-88,789,593)mRNA (may differ from genome)Protein (543 aa)
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MGIOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KCNK10
CDC HuGE Published Literature: KCNK10
Positive Disease Associations: Cholesterol , Neurobehavioral Manifestations , Neuroblastoma
Related Studies:
  1. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Neurobehavioral Manifestations
    Michelle Luciano et al. Biological psychology 2011, Whole genome association scan for genetic polymorphisms influencing information processing speed., Biological psychology. [PubMed 21130836]
  3. Neuroblastoma
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: KCNK10
Diseases sorted by gene-association score: birk-barel mental retardation dysmorphism syndrome (2), dentin sensitivity (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.34 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 22.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -152.72451-0.339 Picture PostScript Text
3' UTR -1769.335427-0.326 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00520 - Ion transport protein
PF07885 - Ion channel

SCOP Domains:
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on P57789-3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  AF279890 - Homo sapiens 2P domain potassium channel TREK2 (KCNK10) mRNA, complete cds.
AF385399 - Homo sapiens potassium channel TREK2 splice variant b mRNA, complete cds.
AF385400 - Homo sapiens potassium channel TREK2 splice variant c mRNA, complete cds.
AK290518 - Homo sapiens cDNA FLJ77939 complete cds, highly similar to Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 2, mRNA.
EU978940 - Homo sapiens K2P10.1 potassium channel isoform 3 (KCNK10) mRNA, complete cds.
EU978941 - Homo sapiens K2P10.1 potassium channel isoform 3 (KCNK10) mRNA, complete cds.
EU978939 - Homo sapiens K2P10.1 potassium channel isoform 2 (KCNK10) mRNA, complete cds.
EU978938 - Homo sapiens K2P10.1 potassium channel isoform 1 (KCNK10) mRNA, complete cds.
BC075022 - Homo sapiens potassium channel, subfamily K, member 10, transcript variant 3, mRNA (cDNA clone MGC:104002 IMAGE:30915410), complete cds.
BC075021 - Homo sapiens potassium channel, subfamily K, member 10, transcript variant 3, mRNA (cDNA clone MGC:104160 IMAGE:30915621), complete cds.
AK313499 - Homo sapiens cDNA, FLJ94053, Homo sapiens potassium channel, subfamily K, member 10 (KCNK10),transcript variant 2, mRNA.
AK315263 - Homo sapiens cDNA, FLJ96272, highly similar to Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 1, mRNA.
AX393903 - Sequence 1 from Patent WO0200715.
U79244 - Human clone 23786 mRNA sequence.
AK125389 - Homo sapiens cDNA FLJ43399 fis, clone OCBBF2009926.
JD321378 - Sequence 302402 from Patent EP1572962.
JD080048 - Sequence 61072 from Patent EP1572962.
JD319274 - Sequence 300298 from Patent EP1572962.
JD323108 - Sequence 304132 from Patent EP1572962.
JD081457 - Sequence 62481 from Patent EP1572962.
JD224454 - Sequence 205478 from Patent EP1572962.
JD239134 - Sequence 220158 from Patent EP1572962.
JD394143 - Sequence 375167 from Patent EP1572962.
JD365315 - Sequence 346339 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P57789 (Reactome details) participates in the following event(s):

R-HSA-5578910 KCNK dimers transport K+ from cytosol to extracellular region
R-HSA-1296348 Activation of TWIK-related K+ channel (TREK)
R-HSA-5576886 Phase 4 - resting membrane potential
R-HSA-1299503 TWIK related potassium channel (TREK)
R-HSA-5576891 Cardiac conduction
R-HSA-1296346 Tandem pore domain potassium channels
R-HSA-397014 Muscle contraction
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: NM_138317, NP_612190, P57789-3, TREK2
UCSC ID: uc001xwn.3
RefSeq Accession: NM_138317
Protein: P57789-3, splice isoform of P57789 CCDS: CCDS9880.1, CCDS9881.1, CCDS9882.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_138317.2
exon count: 7CDS single in 3' UTR: no RNA size: 7527
ORF size: 1632CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3464.00frame shift in genome: no % Coverage: 99.77
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.