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

KCNK12 Gene

protein-coding   GIFtS: 51
GCID: GC02M047747

Potassium Channel, Subfamily K, Member 12

  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 121 2     K2p12.12
Tandem Pore Domain Halothane-Inhibited Potassium Channel 22 3     Potassium Channel Subfamily K Member 122
THIK-22 3     Tandem Pore Domain Potassium Channel THIK-22
THIK22 5     

External Ids:    HGNC: 62741   Entrez Gene: 566602   Ensembl: ENSG000001842617   OMIM: 6073665   UniProtKB: Q9HB153   

Export aliases for KCNK12 gene to outside databases

Previous GC identifers: GC02M047763 GC02M047916 GC02M047722 GC02M047659 GC02M047483


(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 KCNK12 Gene:
This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming
P domains. The product of this gene has not been shown to be a functional channel, however, it may require other
non-pore-forming proteins for activity. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNK12 Gene: 
KCNK12 (potassium channel, subfamily K, member 12) is a protein-coding gene. Diseases associated with KCNK12 include idiopathic generalized epilepsy, and vitiligo, and among its related super-pathways are Melatonin Signaling and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated ion channel activity and potassium channel activity. An important paralog of this gene is KCNK15.

UniProtKB/Swiss-Prot: KCNKC_HUMAN, Q9HB15
Function: Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to
associate with another protein to form a functional channel (By similarity)

Gene Wiki entry for KCNK12 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_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNK12 gene promoter:
         AhR   Max1   NF-1   AP-1   Pax-5   HNF-3beta   Arnt   MZF-1   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNK12 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNK12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNK12


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

Entrez Gene cytogenetic band: 2p16.3   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p16.3

KCNK12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNK12 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M047747:  view genomic region     (about GC identifiers)

Start:
47,747,910 bp from pter      End:
47,798,078 bp from pter
Size:
50,169 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: KCNKC_HUMAN, Q9HB15 (See protein sequence)
Recommended Name: Potassium channel subfamily K member 12  
Size: 430 amino acids; 46889 Da
Subunit: Heterodimer (Potential)
Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Explore the universe of human proteins at neXtProt for KCNK12: NX_Q9HB15

Explore proteomics data for KCNK12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HB15

  • KCNK12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNK12 Protein Expression
    REFSEQ proteins: NP_071338.1  
    ENSEMBL proteins: 
     ENSP00000327611  

    Human Recombinant Protein Products for KCNK12: 
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    Cloud-Clone Corp. Proteins for KCNK12 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    KCNK12 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: K2P12.1 
    Two-P potassium channels

    3 InterPro protein domains:
     IPR003280 2pore_dom_K_chnl
     IPR005410 2pore_dom_K_chnl_THIK
     IPR013099 Ion_trans_2

    Graphical View of Domain Structure for InterPro Entry Q9HB15

    ProtoNet protein and cluster: Q9HB15

    3 Blocks protein domains:
    IPB003280 Two pore domain K+ channel signature
    IPB005410 THIK K+ channel signature
    IPB013099 Ion transport 2


    UniProtKB/Swiss-Prot: KCNKC_HUMAN, Q9HB15
    Similarity: Belongs to the two pore domain potassium channel (TC 1.A.1.8) family


    KCNK12 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: KCNKC_HUMAN, Q9HB15
    Function: Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to
    associate with another protein to form a functional channel (By similarity)

         Gene Ontology (GO): 2 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 IEA--
         
    KCNK12 for ontologies           About GeneDecksing


    Animal Models:
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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 KCNK12 About                                                                                                See pathways by source

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

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KCNK12 (see all 13)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Hepatic ABC Transporters
    PKA Signaling
    Sweet Taste Signaling


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCNK12

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

    Compounds for KCNK12 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]

    1 IUPHAR Ligand for KCNK12 (K2P12.1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    halothane
    InhibitorNone--

    Search CenterWatch for drugs/clinical trials and news about KCNK12 / KCNKC

    (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 KCNK12 gene: 
    NM_022055.1  

    Unigene Cluster for KCNK12:

    Potassium channel, subfamily K, member 12
    Hs.591586  [show with all ESTs]
    Unigene Representative Sequence: BC047749
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327876(uc002rwb.3) ENST00000493527
    miRNA
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    Additional mRNA sequence: 

    AF287302.1 BC047749.1 

    3 DOTS entries:

    DT.75135164  DT.95157677  DT.40226063 

    24/35 AceView cDNA sequences (see all 35):

    BC047749 NM_022055 BI962982 CK903603 AF287302 AW135862 BI966799 BF663150 
    BG398375 BX397064 BI517462 BI757775 BX342864 CD516991 AI969059 BX282643 
    BG216088 BG208703 BI262061 AI825537 BI547637 BX342523 BX342863 BX343323 

    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

    KCNK12 expression in normal human tissues (normalized intensities)      KCNK12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACAACCGGC
    KCNK12 Expression
    About this image


    KCNK12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             TGFbeta3+BMP7-induced chondrocytes
     
     Brain (Nervous System)    fully expand to see all 2 entries
             N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             Olfactory Bulb   
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Human Intestinal Smooth Muscle Cells (HISMC)   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             TGFbeta3+BMP7-induced chondrocytes
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             ESI-035   

    See KCNK12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNK12

    SOURCE GeneReport for Unigene cluster: Hs.591586
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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 KCNK12 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnk121 , 5 potassium channel, subfamily K, member 121, 5 96.2(n)1
    99.07(a)1
      17 (57.87 cM)5
    2107411  NM_199251.11  NP_954859.11 
     877458375 
    chicken
    (Gallus gallus)
    Aves KCNK121 potassium channel, subfamily K, member 12 73.89(n)
    79.09(a)
      428554  XM_003640904.1  XP_003640952.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNK126
    --
    Uncharacterized protein
    77(a)
    70(a)
    1 ↔ many
    1 ↔ many
    1(254921270-254922329)
    1(254990917-254991252)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5591531 potassium channel subfamily K member 12-like 69.33(n)
    73(a)
      559153  XM_682469.3  XP_687561.1 
    worm
    (Caenorhabditis elegans)
    Secernentea twk-123 potassium channel protein 37(a)   V(12390060-12391487)   --


    ENSEMBL Gene Tree for KCNK12 (if available)
    TreeFam Gene Tree for KCNK12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNK12 gene
    KCNK152  KCNK52  KCNK162  KCNK32  KCNK92  KCNK62  KCNK22  KCNK102  
    KCNK72  KCNK172  KCNK42  KCNK132  KCNK12  
    1 SIMAP similar gene for KCNK12 using alignment to 1 protein entry:     KCNKC_HUMAN:
    KCNK13

    KCNK12 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

    10/895 SNPs in KCNK12 are shown (see all 895)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1493478461,2
    --47747441(+) CAAATA/CTGGGG 1 -- ds50010--------
    rs3703002061,2
    C--47747523(+) GTGGC-/TGGGG 
            
    TGTTC
    1 -- ds50010--------
    rs1383599311,2
    C--47747524(+) TGGCT-/GG    
       GGGGG
    GTTCT
    1 -- ds50010--------
    rs1449483061,2
    --47747560(+) TGGCT-/GGTCCC 1 -- ds50010--------
    rs1885312541,2
    --47747647(+) AAATGC/TTGAGG 1 -- ds50010--------
    rs1446563101,2
    C--47747764(+) CGGTAC/TGCCCT 1 -- ds50010--------
    rs22781391,2
    C,F,H--47748292(-) CTCGGC/TGCCGA 2 G syn1 ese33Minor allele frequency- T:0.39NA EA 124
    rs1158629261,2
    C,F--47748388(+) GCGCAG/ACAGCG 2 /C syn13Minor allele frequency- A:0.00EU NA 3663
    rs2017302631,2
    --47748470(+) AAATGC/GAGCAC 2 S C mis10--------
    rs778832121,2
    C,F--47748487(+) AGCAGG/AATGAA 2 /I syn14Minor allele frequency- A:0.01WA NA 4796

    HapMap Linkage Disequilibrium report for KCNK12 (47747910 - 47798078 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KCNK12:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675502CNV Deletion23128226
    nsv2717CNV Insertion18451855
    esv29460CNV Loss19812545

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607366    OMIM disorders: --

    8 diseases for KCNK12:    About MalaCards
    idiopathic generalized epilepsy    vitiligo    maturity-onset diabetes of the young    migraine
    cholera    pancreatitis    neuronitis    hepatitis


    KCNK12 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNK12
    Human Genome Epidemiology (HuGE) Navigator: KCNK12 (1 document)

    Export disorders for KCNK12 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 KCNK12 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with KCNK12)
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    1. THIK-1 and THIK-2, a novel subfamily of tandem pore domain K+ channels. (PubMed id 11060316)1, 2, 3 Rajan S.... Derst C. (2001)
    2. Genome-Wide Association Study of Generalized Vitiligo in an Isolated European Founder Population Identifies SMOC2, in Close Proximit y to IDDM8. (PubMed id 19890347)1, 4 Birlea S.A....Spritz R.A. (2010)
    3. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PubMed id 18676988)1, 4 Nyholt D.R....Palotie A. (2008)
    4. 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)
    5. Cellular localization of THIK-1 (K(2P)13.1) and THIK-2 (K(2P)12.1) K channels in the mammalian kidney. (PubMed id 18209473)1, 9 Theilig F....Derst C. (2008)
    6. Genome-wide association study of Alzheimer's disease w ith psychotic symptoms. (PubMed id 22005930)4 Hollingworth P....Williams J. (2012)
    7. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (2006)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Genomic and functional characteristics of novel human pancreatic 2P domain K(+) channels. (PubMed id 11263999)1 Girard C.... Lesage F. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 56660 HGNC: 6274 AceView: KCNK12 Ensembl:ENSG00000184261 euGenes: HUgn56660
    ECgene: KCNK12 H-InvDB: KCNK12

    (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 KCNK12 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 KCNK12 gene:
    Search GeneIP for patents involving KCNK12

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



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