Human Gene KCNK10 (uc001xwo.3)
  Description: Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 1, mRNA.
RefSeq Summary (NM_021161): 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 chr14:88,646,452-88,793,256 Size: 146,805 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr14:88,651,879-88,792,799 Size: 140,921 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:88,646,452-88,793,256)mRNA (may differ from genome)Protein (538 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHuman Cortex Gene ExpressionLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCNKA_HUMAN
DESCRIPTION: RecName: Full=Potassium channel subfamily K member 10; AltName: Full=Outward rectifying potassium channel protein TREK-2; AltName: Full=TREK-2 K(+) channel subunit;
FUNCTION: Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. Activated by arachidonic acid and other naturally occurring unsaturated free fatty acids.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Abundantly expressed in pancreas and kidney and to a lower level in brain, testis, colon, and small intestine. Isoform b is strongly expressed in kidney (primarily in the proximal tubule) and pancreas, whereas isoform c is abundantly expressed in brain.
SIMILARITY: Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.

-  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 -213.20457-0.467 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
  InterPro Domains: Graphical view of domain structure
IPR003280 - 2pore_dom_K_chnl
IPR003976 - 2pore_dom_K_chnl_TREK
IPR013099 - Ion_trans_2

Pfam Domains:
PF00520 - Ion transport protein
PF07885 - Ion channel

SCOP Domains:
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on P57789
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 BrowserNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGD   SGD
 Protein Sequence   Protein Sequence
 Alignment   Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005244 voltage-gated ion channel activity
GO:0005267 potassium channel activity
GO:0022841 potassium ion leak channel activity

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007165 signal transduction
GO:0007613 memory
GO:0030322 stabilization of membrane potential
GO:0034765 regulation of ion transmembrane transport
GO:0071805 potassium ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  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.
JD428908 - Sequence 409932 from Patent EP1572962.
JD187803 - Sequence 168827 from Patent EP1572962.
JD562447 - Sequence 543471 from Patent EP1572962.
JD189463 - Sequence 170487 from Patent EP1572962.
JD501530 - Sequence 482554 from Patent EP1572962.
JD069381 - Sequence 50405 from Patent EP1572962.
JD244975 - Sequence 225999 from Patent EP1572962.
JD324063 - Sequence 305087 from Patent EP1572962.
JD307853 - Sequence 288877 from Patent EP1572962.
JD185201 - Sequence 166225 from Patent EP1572962.
JD208319 - Sequence 189343 from Patent EP1572962.
JD117341 - Sequence 98365 from Patent EP1572962.
JD434613 - Sequence 415637 from Patent EP1572962.
JD337022 - Sequence 318046 from Patent EP1572962.
JD470839 - Sequence 451863 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: B2R8T4, B2RCT3, B5TJL4, KCNKA_HUMAN, NM_021161, NP_066984, P57789, Q6B014, Q8TDK7, Q8TDK8, Q9HB59, TREK2
UCSC ID: uc001xwo.3
RefSeq Accession: NM_021161
Protein: P57789 (aka KCNKA_HUMAN or CIWA_HUMAN)
CCDS: CCDS9880.1, CCDS9881.1, CCDS9882.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_021161.4
exon count: 7CDS single in 3' UTR: no RNA size: 7518
ORF size: 1617CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3062.50frame 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.