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

KCTD8 Gene

protein-coding   GIFtS: 41
GCID: GC04M044091

potassium channel tetramerisation domain containing 8

  Search for KCTD8
in our new
 Human Malady Compendium 
Biological research products
for KCTD8
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Potassium Channel Tetramerisation Domain Containing 81 2
BTB/POZ Domain-Containing Protein KCTD82

External Ids:    HGNC: 223941   Entrez Gene: 3866172   Ensembl: ENSG000001837837   UniProtKB: Q6ZWB63   

Export aliases for KCTD8 gene to outside databases

Previous GC identifers: GC04U900183 GC04M044017 GC04M043870 GC04M043497


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

UniProtKB/Swiss-Prot: KCTD8_HUMAN, Q6ZWB6
Function: Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response.
Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and
promoting desensitization (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006238.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCTD8 gene promoter:
         Nkx3-1   COUP-TF1   NRSF form 1   COUP   Nkx3-1 v1   POU6F1 (c2)   HNF-4alpha2   NRSF form 2   HNF-4alpha1   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCTD8 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCTD8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCTD8


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

Entrez Gene cytogenetic band: 4p13   Ensembl cytogenetic band:  4p13   HGNC cytogenetic band: 4p13

KCTD8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCTD8 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M044091:  view genomic region     (about GC identifiers)

Start:
44,175,920 bp from pter      End:
44,450,824 bp from pter
Size:
274,905 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KCTD8_HUMAN, Q6ZWB6 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein KCTD8  
Size: 473 amino acids; 52440 Da
Subunit: Interacts as a tetramer with GABRB1 and GABRB2 (By similarity)
Subcellular location: Cell junction, synapse, presynaptic cell membrane (By similarity). Cell junction, synapse,
postsynaptic cell membrane (By similarity)
Secondary accessions: A2RU39

Explore the universe of human proteins at neXtProt for KCTD8: NX_Q6ZWB6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZWB6

  • KCTD8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_938167.1  
    ENSEMBL proteins: 
     ENSP00000353129   ENSP00000424862  

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    Uscn Proteins for KCTD8

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0030054cell junction IEA--
    GO:0042734presynaptic membrane IEA--
    GO:0043235receptor complex IEA--
    GO:0045211postsynaptic membrane IEA--


    KCTD8 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KCTD8 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR003131 T1-type_BTB

    Graphical View of Domain Structure for InterPro Entry Q6ZWB6

    ProtoNet protein and cluster: Q6ZWB6

    1 Blocks protein family: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: KCTD8_HUMAN, Q6ZWB6
    Similarity: Contains 1 BTB (POZ) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: KCTD8_HUMAN, Q6ZWB6
    Function: Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response.
    Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and
    promoting desensitization (By similarity)

    miRNA
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    hsa-miR-3910 hsa-miR-513a-5p hsa-miR-15a hsa-miR-124 hsa-miR-424 hsa-miR-506 hsa-miR-3143 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidKCTD8 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sweet Taste Signaling
    Sweet Taste Signaling1.00
    Bitter Taste Signaling0.44
    Melatonin Signaling0.72
    Sperm Motility0.36
    Cellular Effects of Sildenafil0.46
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    PKA Signaling0.56
    cAMP Pathway0.77
    3Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons1.00
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    4Hepatic ABC Transporters
    Hepatic ABC Transporters1.00
    MODY (Maturity-Onset Diabetes of Young)0.41

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KCTD8 (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 KCTD8

    1 Interacting protein for KCTD8 (Q6ZWB63) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFRP005333I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008277regulation of G-protein coupled receptor protein signaling pathway IEA--
    GO:0051260protein homooligomerization IEA--


    KCTD8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 KCTD8
    Search CenterWatch for drugs/clinical trials and news about KCTD8 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KCTD8 gene: 
    NM_198353.2  

    Unigene Cluster for KCTD8:

    Potassium channel tetramerisation domain containing 8
    Hs.479644  [show with all ESTs]
    Unigene Representative Sequence: NM_198353
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360029(uc003gwu.3) ENST00000515268

    miRNA
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    hsa-miR-3910 hsa-miR-513a-5p hsa-miR-15a hsa-miR-124 hsa-miR-424 hsa-miR-506 hsa-miR-3143 hsa-miR-3662
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK123347.1 AK298831.1 BC132743.1 BC136793.1 

    2 DOTS entries:

    DT.40316884  DT.121269530 

    7 AceView cDNA sequences:

    AK123347 NM_198353 CA844212 T16697 BI601491 CA866432 H18367 

    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

    KCTD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAATCAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See KCTD8 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.479644
        SABiosciences Custom PCR Arrays for KCTD8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCTD8

    (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 KCTD8 gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves KCTD81 potassium channel tetramerisation domain containing more 83.56(n)
    89.63(a)
      770600  XM_001233939.1  XP_001233940.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCTD86
    --
    79(a)
    1 ↔ 1
    5(101998714-102066502)
    zebrafish
    (Danio rerio)
    Actinopterygii kctd81 potassium channel tetramerisation domain containing more 69.66(n)
    79.14(a)
      568933  NM_001037241.1  NP_001032318.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG108306
    --
    48(a)
    possible ortholog
    3R(16720174-16723042)


    ENSEMBL Gene Tree for KCTD8 (if available)
    TreeFam Gene Tree for KCTD8 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCTD8 gene
    KCTD12  KCTD152  KCTD162  KCTD42  KCNRG2  KCTD122  KCTD112  KCTD212  
    KCTD62  KCTD142  
    2 SIMAP similar genes for KCTD8 using alignment to 2 protein entries:     KCTD8_HUMAN (see all proteins):
    KCTD16    KCTD12

    KCTD8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 18 variations for KCTD8
         10 CNVs: 92068 23723 51410 92070 92071 51411 63814 38557 80276 63813
         8 Indels: 80275 92069 98697 40622 41863 80277 12443 46649
    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, 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 KCTD8 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KCTD8)
        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. (2004)
    2. A genome-wide association study of the Protein C antic oagulant pathway. (PubMed id 22216198)1 Athanasiadis G....Soria J.M. (2011)
    3. 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. (2004)
    4. 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: 386617 HGNC: 22394 AceView: KCTD8 Ensembl:ENSG00000183783 euGenes: HUgn386617
    ECgene: KCTD8 H-InvDB: KCTD8

    (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 KCTD8 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 KCTD8 gene:
    Search GeneIP for patents involving KCTD8

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
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    von Willebrand factor
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