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

KCTD18 Gene

protein-coding   GIFtS: 43
GCID: GC02M201353

Potassium Channel Tetramerization Domain Containing 18

(Previous name: potassium channel tetramerisation domain containing 18)
  Search for KCTD18
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 Tetramerization Domain Containing 181 2
Potassium Channel Tetramerisation Domain Containing 181 2
6530404F10Rik2
BTB/POZ Domain-Containing Protein KCTD182

External Ids:    HGNC: 264461   Entrez Gene: 1305352   Ensembl: ENSG000001557297   UniProtKB: Q6PI473   

Export aliases for KCTD18 gene to outside databases

Previous GC identifers: GC02M201180 GC02M201061 GC02M193206


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for KCTD18 Gene: 
KCTD18 (potassium channel tetramerization domain containing 18) is a protein-coding 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  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCTD18 gene promoter:
         LHX3b/Lhx3b   HNF-3beta   CBF-C   CBF-A   POU2F1   CBF-B   POU2F1a   LHX3a/Lhx3a   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCTD18 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCTD18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCTD18


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

Entrez Gene cytogenetic band: 2q33.1   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.1

KCTD18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCTD18 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M201353:  view genomic region     (about GC identifiers)

Start:
201,353,675 bp from pter      End:
201,384,507 bp from pter
Size:
30,833 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: KCD18_HUMAN, Q6PI47 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein KCTD18  
Size: 426 amino acids; 46739 Da
Secondary accessions: Q53T21 Q6NW26 Q6PCD8 Q8N9B7 Q96N73
Alternative splicing: 3 isoforms:  Q6PI47-1   Q6PI47-2   Q6PI47-3   (No experimental confirmation available. Ref.1 (AK095137) sequence is in conflict in position: 43:M->I)

Explore the universe of human proteins at neXtProt for KCTD18: NX_Q6PI47

Explore proteomics data for KCTD18 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6PI47

  • KCTD18 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCTD18 Protein Expression
    REFSEQ proteins: NP_689600.2  
    ENSEMBL proteins: 
     ENSP00000352941   ENSP00000386751  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR011333 BTB/POZ_fold
     IPR003131 T1-type_BTB
     IPR000210 BTB/POZ-like

    Graphical View of Domain Structure for InterPro Entry Q6PI47

    ProtoNet protein and cluster: Q6PI47

    1 Blocks protein domain: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: KCD18_HUMAN, Q6PI47
    Similarity: Contains 1 BTB (POZ) domain


    KCTD18 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

    Phenotypes:
         2 GenomeRNAi human phenotypes for KCTD18:
     Decreased POU5F1-GFP protein e  Increased cell death HMECs cel 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCTD18 
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    SwitchGear 3'UTR luciferase reporter plasmidKCTD18 3' UTR sequence
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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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCTD18

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051260protein homooligomerization IEA--

    KCTD18 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KCTD18 (KCD18)

    Search CenterWatch for drugs/clinical trials and news about KCTD18 / KCD18

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 KCTD18 gene: 
    NM_152387.2  

    Unigene Cluster for KCTD18:

    Potassium channel tetramerisation domain containing 18
    Hs.605775  [show with all ESTs]
    Unigene Representative Sequence: BC045189
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359878(uc002uvs.3) ENST00000409157(uc002uvt.3) ENST00000468413
    ENST00000478816(uc002uvu.1) ENST00000447556
    miRNA
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    hsa-miR-607 hsa-miR-3688-3p hsa-miR-561 hsa-miR-586 hsa-miR-330-3p hsa-miR-3121-3p hsa-miR-491-3p hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidKCTD18 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCTD18
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    Additional mRNA sequence: 

    AK055884.1 AK095137.1 AK290867.1 BC045189.1 BC059366.1 BC067755.1 

    6 DOTS entries:

    DT.436165  DT.100745205  DT.411929  DT.92418378  DT.95159293  DT.40307370 

    24/68 AceView cDNA sequences (see all 68):

    NM_152387 BM992087 BQ224321 AI281421 AA424064 AW339549 BC067755 AA708329 
    AW070292 CF264997 AA814384 AA765603 AA730044 AI355934 BU618216 N23090 
    AI566925 AA767454 CA396085 CR596892 AA424114 AL046691 AK055884 AI341862 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KCTD18    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
    SP1:              -                                       
    SP2:                                                      


    ECgene alternative splicing isoforms for KCTD18

    (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

    KCTD18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTATTCAGT
    KCTD18 Expression
    About this image


    See KCTD18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCTD18

    SOURCE GeneReport for Unigene cluster: Hs.605775
        SABiosciences Custom PCR Arrays for KCTD18
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCTD18

    (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 chordates.

    Orthologs for KCTD18 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kctd181 , 5 potassium channel tetramerisation domain containing more1, 5 83.98(n)1
    82.61(a)1
      1 (28.86 cM)5
    519601  NM_001159864.11  NP_001153336.11 
     579552485 
    chicken
    (Gallus gallus)
    Aves KCTD181 potassium channel tetramerisation domain containing more 68.6(n)
    67(a)
      424069  XM_421925.3  XP_421925.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCTD186
    potassium channel tetramerisation domain containin...
    60(a)
    1 ↔ 1
    1(117732672-117740816)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.328382 Xenopus laevis transcribed sequence with weak similarity more 75.35(n)    AW645620.1 


    ENSEMBL Gene Tree for KCTD18 (if available)
    TreeFam Gene Tree for KCTD18 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/481 SNPs in KCTD18 are shown (see all 481)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1453528631,2
    C--201353357(+) TCTGAA/TAATTC 1 -- int10--------
    rs793285891,2
    C,F--201353798(+) CTGTTT/ATATGA 1 -- ut312Minor allele frequency- A:0.10NA EA 240
    rs176309811,2
    C,F,H--201354244(+) AAATCG/ATTGAA 1 -- ut3125Minor allele frequency- A:0.22NA NS EA WA 3747
    rs1821632911,2
    --201354356(+) GCCTTC/GATCTA 1 -- ut310--------
    rs1476797511,2
    --201354474(+) ATCCTC/TGGGTT 1 -- ut310--------
    rs1407048951,2
    C--201354532(+) TTATTC/TGTTGT 1 -- ut310--------
    rs789783831,2
    C,F--201354647(+) TGGAGC/GCTTAA 1 -- ut311Minor allele frequency- G:0.07WA 118
    rs1453150711,2
    --201354655(+) TAACCA/GTTGAA 1 -- ut310--------
    rs168335781,2
    C--201354676(-) AGGAAT/CGGAGG 1 -- ut31 ese34Minor allele frequency- C:0.14MN NA EA 426
    rs1174212691,2
    C--201354736(+) CCTCTG/CCTGCA 1 -- ut311Minor allele frequency- C:0.01EA 120

    HapMap Linkage Disequilibrium report for KCTD18 (201353675 - 201384507 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KCTD18: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KCTD18
    DNA2.0 Custom Variant and Variant Library Synthesis for KCTD18

    (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
      --

    (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 KCTD18 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KCTD18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Fine-mapping of restless legs locus 4 (RLS4) identifie s a haplotype over the SPATS2L and KCTD18 genes. (PubMed id 23054586)1 Pichler I....Pramstaller P.P. (2013)
    5. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    8. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 130535 HGNC: 26446 AceView: FLJ31322 Ensembl:ENSG00000155729 euGenes: HUgn130535
    ECgene: KCTD18 H-InvDB: KCTD18

    (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 KCTD18 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 KCTD18 gene:
    Search GeneIP for patents involving KCTD18

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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