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KCTD19 Gene

protein-coding   GIFtS: 44
GCID: GC16M067323

Potassium Channel Tetramerization Domain Containing 19

(Previous name: potassium channel tetramerisation domain containing 19)
  Search for KCTD19
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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Potassium Channel Tetramerization Domain Containing 191 2
Potassium Channel Tetramerisation Domain Containing 191 2
BTB/POZ Domain-Containing Protein KCTD192

External Ids:    HGNC: 247531   Entrez Gene: 1462122   Ensembl: ENSG000001686767   UniProtKB: Q17RG13   
ORGUL members:         

Export aliases for KCTD19 gene to outside databases

Previous GC identifers: GC16M065881 GC16U900651 GC16M053196


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KCTD19 Gene:
KCTD19 (potassium channel tetramerization domain containing 19) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCTD19 gene promoter:
         SRF   HFH-3   NF-1   Pax-5   SRF (504 AA)   Pax-6   CUTL1   FOXL1   FOXI1   ARP-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KCTD19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCTD19


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

KCTD19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCTD19 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M067323:  view genomic region     (about GC identifiers)

Start:
67,323,331 bp from pter      End:
67,360,666 bp from pter
Size:
37,336 bases      Orientation:
minus 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, 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., 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: KCD19_HUMAN, Q17RG1 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein KCTD19  
Size: 926 amino acids; 104938 Da
Secondary accessions: B4DZ49 Q8N804

Explore the universe of human proteins at neXtProt for KCTD19: NX_Q17RG1

Explore proteomics data for KCTD19 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCTD19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001094385.1  
    ENSEMBL proteins: 
     ENSP00000463249   ENSP00000305702   ENSP00000462122   ENSP00000458045   ENSP00000462732  

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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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    2 InterPro protein domains:
     IPR011333 BTB/POZ_fold
     IPR003131 T1-type_BTB

    Graphical View of Domain Structure for InterPro Entry Q17RG1

    ProtoNet protein and cluster: Q17RG1

    UniProtKB/Swiss-Prot: KCD19_HUMAN, Q17RG1
    Similarity: Contains 2 BTB (POZ) domains


    KCTD19 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCTD19
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    hsa-miR-586 hsa-miR-3662
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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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    peroxisome1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCTD19
    Interactions:

        Search GeneGlobe Interaction Network for KCTD19

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCTD19 (ENSP000003057024) via UniProtKB, MINT, STRING, and/or I2D (see all 172)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDX27ENSP000003608284STRING: ENSP00000360828
    DDX54ENSP000003238584STRING: ENSP00000323858
    GTPBP4ENSP000003540404STRING: ENSP00000354040
    NAT10ENSP000002578294STRING: ENSP00000257829
    NOC3LENSP000003604124STRING: ENSP00000360412
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

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

    KCTD19 for ontologies           About GeneDecksing



    (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 

    Browse Tocris compounds for KCTD19 (KCD19)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KCTD19 gene: 
    NM_001100915.1  

    Unigene Cluster for KCTD19:

    Potassium channel tetramerisation domain containing 19
    Hs.299127  [show with all ESTs]
    Unigene Representative Sequence: BC094790
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000570049(uc002est.2) ENST00000562841 ENST00000566392(uc010vjj.1)
    ENST00000569333 ENST00000304372(uc002esu.2) ENST00000562860 ENST00000568736
    ENST00000562721 ENST00000567976 ENST00000561625 ENST00000566295
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate KCTD19:
    hsa-miR-586 hsa-miR-3662
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    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat KCTD19

    Additional mRNA sequence: 

    AK097481.1 AK302567.1 AK302748.1 BC070103.1 BC094790.1 BC117335.1 

    9 DOTS entries:

    DT.99930785  DT.411290  DT.403101  DT.120699160  DT.75194274  DT.120699166  DT.40281635  DT.101982869 
    DT.120699170 

    21 AceView cDNA sequences:

    AK097481 AW594556 BX281522 BF062344 AA311982 AA398065 AA478114 AA993450 
    AL041441 BG037142 BG771814 AA436131 AW297441 BC070103 BG771475 BI460296 
    BI545628 AI824800 BF980306 AL039621 BI464706 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KCTD19 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
    SP1:                    -     -     -                 -                                   -     -           -                             -                     
    SP2:                    -     -                       -                                                                                                         
    SP3:                          -     -                 -                                                                                                         
    SP4:                                                                                                                                                            
    SP5:                                                  -     -     -     -                 -     -                                                               

    ExUns: 15a · 15b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for KCTD19

    (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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    KCTD19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCCATCAG
    KCTD19 Expression
    About this image

    KCTD19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCTD19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.299127
        Custom PCR Arrays for KCTD19
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    In Situ
    Assay Products:
     

     
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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 chordates.

    Orthologs for KCTD19 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kctd191 , 5 potassium channel tetramerisation domain containing more1, 5 86.63(n)1
    88.97(a)1
      8 (53.04 cM)5
    2794991  NM_177791.21  NP_808459.11 
     1053828075 
    chicken
    (Gallus gallus)
    Aves KCTD191 potassium channel tetramerisation domain containing more 63.87(n)
    59.41(a)
      769782  XM_001233081.3  XP_001233082.3 
    lizard
    (Anolis carolinensis)
    Reptilia KCTD196
    potassium channel tetramerization domain containin...
    48(a)
    1 ↔ 1
    GL344217.1(24319-34857)


    ENSEMBL Gene Tree for KCTD19 (if available)
    TreeFam Gene Tree for KCTD19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCTD19 gene
    5 SIMAP similar genes for KCTD19 using alignment to 5 protein entries:     KCD19_HUMAN (see all proteins):
    SHKBP1    KCTD21    KCTD1    KCTD6    KCTD15

    KCTD19 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), 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 KCTD19 (see all 615)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1455871221,2
    --67323977(+) TAAATC/TGTTTC 1 -- int10--------
    rs1425740171,2
    C--67324061(+) TTACTA/GAATAT 1 -- int10--------
    rs1484955261,2
    C--67324070(+) ATTTT-/CTTTTT 1 -- int10--------
    rs2009223081,2
    C--67324070(+) ATTTTC/TTTTTT 1 -- int10--------
    rs112964441,2
    C--67324071(+) TTTTT-/TTTTTT 1 -- int1 trp31Minor allele frequency- T:0.00NA 2
    rs735928331,2
    C,F--67324075(+) CTTTTC/TTTTTT 1 -- int12Minor allele frequency- T:0.50WA 4
    rs1877036601,2
    --67324162(+) TACAAA/GCTCCG 1 -- int10--------
    rs99226361,2
    C,F--67324256(+) ttttgC/Tgtttt 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1928089881,2
    --67324437(+) ACATCA/GTGGCC 1 -- int10--------
    rs1842606031,2
    --67324444(+) GGCCAC/GATAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for KCTD19 (67323331 - 67360666 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for KCTD19:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv906803CNV Loss21882294
    dgv2886n71CNV Loss21882294
    nsv524492CNV Loss19592680
    nsv524363CNV Loss19592680
    dgv2885n71CNV Loss21882294
    nsv471092CNV Gain18288195
    nsv522852CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCTD19
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    (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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    KCTD19 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCTD19

    Export disorders for KCTD19 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 KCTD19 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KCTD19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. 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. (Proc. Natl. Acad. Sci. U.S.A. 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: 146212 HGNC: 24753 AceView: FLJ40162 Ensembl:ENSG00000168676 euGenes: HUgn146212
    ECgene: KCTD19 H-InvDB: KCTD19

    (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 KCTD19 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 KCTD19 gene:
    Search GeneIP for patents involving KCTD19

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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