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KCTD7 Gene

protein-coding   GIFtS: 51
GCID: GC07P066093

Potassium Channel Tetramerization Domain Containing 7

(Previous name: potassium channel tetramerisation domain containing 7)
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(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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Aliases
Potassium Channel Tetramerization Domain Containing 71 2
Potassium Channel Tetramerisation Domain Containing 71 2
CLN142 5
EPM32 5
BTB/POZ Domain-Containing Protein KCTD72

External Ids:    HGNC: 219571   Entrez Gene: 1548812   Ensembl: ENSG000002433357   OMIM: 6117255   UniProtKB: Q96MP83   

Export aliases for KCTD7 gene to outside databases

Previous GC identifers: GC07P065505 GC07P065538 GC07P065731 GC07P062278


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCTD7 Gene:
This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family
members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain
present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive
myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.(provided by RefSeq, Jan 2011)

GeneCards Summary for KCTD7 Gene:
KCTD7 (potassium channel tetramerization domain containing 7) is a protein-coding gene. Diseases associated with KCTD7 include progressive myoclonic epilepsy 3 with or without intracellular inclusions, and myoclonus epilepsy. An important paralog of this gene is GAPVD1.

UniProtKB/Swiss-Prot: KCTD7_HUMAN, Q96MP8
Function: May be involved in the control of excitability of cortical neurons (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCTD7 gene promoter:
         RP58   Olf-1   Lmo2   YY1   Gfi-1   Max   HEN1   NRF-2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCTD7 promoter sequence
   Search Chromatin IP Primers for KCTD7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCTD7


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

Entrez Gene cytogenetic band: 7q11.21   Ensembl cytogenetic band:  7q11.21   HGNC cytogenetic band: 7q11.21

KCTD7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCTD7 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P066093:  view genomic region     (about GC identifiers)

Start:
66,093,868 bp from pter      End:
66,276,446 bp from pter
Size:
182,579 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 65,431,411-65,445,769     

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KCTD7_HUMAN, Q96MP8 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein KCTD7  
Size: 289 amino acids; 33132 Da
Subunit: Interacts with CUL3
Secondary accessions: A4D2M4 Q8IVR0
Alternative splicing: 2 isoforms:  Q96MP8-1   Q96MP8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KCTD7: NX_Q96MP8

Explore proteomics data for KCTD7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCTD7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161433.1  NP_694578.1  

    ENSEMBL proteins: 
     ENSP00000275532   ENSP00000411624   ENSP00000388463   ENSP00000421074   ENSP00000370208  
     ENSP00000421124   ENSP00000398177  

    KCTD7 Human Recombinant Protein Products:

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    Novus Biologicals KCTD7 Protein
    Novus Biologicals KCTD7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KCTD7

    KCTD7 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for KCTD7
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    ThermoFisher Antibodies for KCTD7
    LSBio Antibodies in human, mouse, rat for KCTD7

    KCTD7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for KCTD7
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    Cloud-Clone Corp. ELISAs for KCTD7
    Cloud-Clone Corp. CLIAs for KCTD7


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

    Graphical View of Domain Structure for InterPro Entry Q96MP8

    ProtoNet protein and cluster: Q96MP8

    UniProtKB/Swiss-Prot: KCTD7_HUMAN, Q96MP8
    Similarity: Contains 1 BTB (POZ) domain


    KCTD7 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCTD7_HUMAN, Q96MP8
    Function: May be involved in the control of excitability of cortical neurons (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0005515protein binding ----
    GO:0008270zinc ion binding ----
         
    KCTD7 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCTD7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KCTD7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCTD7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCTD7

    miRNA
    Products:
        
    miRTarBase miRNAs that target KCTD7:
    hsa-mir-92a-3p (MIRT048921), hsa-mir-320a (MIRT044637), hsa-mir-17-5p (MIRT051052)

    Block miRNA regulation of human, mouse, rat KCTD7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCTD7 (see all 39):
    hsa-miR-21* hsa-miR-193a-3p hsa-miR-3607-3p hsa-miR-30d hsa-miR-486-3p hsa-miR-124 hsa-miR-30a hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidKCTD7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KCTD7
    Predesigned siRNA for gene silencing in human, mouse, rat KCTD7

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for KCTD7

    Clone
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    OriGene clones in human, mouse for KCTD7 (see all 11)
    OriGene ORF clones in mouse, rat for KCTD7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): KCTD7 (NM_153033)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCTD7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCTD7

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KCTD7
    Browse ESI BIO Cell Lines and PureStem Progenitors for KCTD7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCTD7


    (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 UniProtKB/Swiss-Prot
    KCTD7_HUMAN, Q96MP8: Cell membrane. Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    cytosol3
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IEA--

    KCTD7 for ontologies           About GeneDecksing


    (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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    SuperPaths for KCTD7 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

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KCTD7 (see all 13)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Hepatic ABC Transporters
    PKA Signaling
    Sweet Taste Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCTD7
    Interactions:

        Search GeneGlobe Interaction Network for KCTD7

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for KCTD7 (ENSP000002755324) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL3ENSP000002644144STRING: ENSP00000264414
    HDAC8ENSP000003626744STRING: ENSP00000362674
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0051260protein homooligomerization IEA--

    KCTD7 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 KCTD7



    (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,
    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 KCTD7 gene (2 alternative transcripts): 
    NM_001167961.2  NM_153033.4  

    Unigene Cluster for KCTD7:

    Potassium channel tetramerisation domain containing 7
    Hs.546627  [show with all ESTs]
    Unigene Representative Sequence: NM_153033
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275532(uc003tvd.4 uc003tve.3) ENST00000443322 ENST00000449064
    ENST00000503687(uc003tvf.3) ENST00000380828(uc003tvi.3) ENST00000510829(uc003tvg.3 uc003tvh.3 uc010lag.3 uc011kee.2)
    ENST00000451741

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KCTD7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCTD7 (see all 39):
    hsa-miR-21* hsa-miR-193a-3p hsa-miR-3607-3p hsa-miR-30d hsa-miR-486-3p hsa-miR-124 hsa-miR-30a hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidKCTD7 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for KCTD7
    Predesigned siRNA for gene silencing in human, mouse, rat KCTD7
    Clone
    Products:
         
    OriGene clones in human, mouse for KCTD7 (see all 11)
    OriGene ORF clones in mouse, rat for KCTD7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): KCTD7 (NM_153033)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCTD7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCTD7
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for KCTD7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KCTD7
      QuantiTect SYBR Green Assays in human, mouse, rat KCTD7
      QuantiFast Probe-based Assays in human, mouse, rat KCTD7

    Additional mRNA sequence: 

    AK055201.1 AK056631.1 BC042482.1 

    4 DOTS entries:

    DT.111838  DT.99975735  DT.111839  DT.121063546 

    Selected AceView cDNA sequences (see all 329):

    AW593820 AI889830 BM679728 BQ010311 AI867374 F11331 AA883708 BM721712 
    AI017520 BU146705 AI288358 AK056864 CA431207 AW196783 BC015330 AI167602 
    BX954067 BU183774 AA873582 AA468867 AI263012 BU431372 CD358434 AA485806 

    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™, 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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    KCTD7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCTGTCTG
    KCTD7 Expression
    About this image

    KCTD7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCTD7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.546627
        Custom PCR Arrays for KCTD7
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for KCTD7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KCTD7
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    QuantiFast Probe-based Assays in human, mouse, rat KCTD7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCTD7

    (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 animals and fungi.

    Orthologs for KCTD7 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kctd71 , 5 potassium channel tetramerisation domain containing 7 less1, 5 91.46(n)1
    97.58(a)1
      5 (68.72 cM)5
    2129191  NM_172509.31  NP_766097.11 
     1301448615 
    chicken
    (Gallus gallus)
    Aves KCTD71 potassium channel tetramerisation domain containing 7 less 75.32(n)
    87.89(a)
      417547  NM_001039269.1  NP_001034358.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kctd71 potassium channel tetramerisation domain containing 7 less 71.63(n)
    78.89(a)
      100497325  XM_004911705.1  XP_004911762.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kctd71 potassium channel tetramerisation domain containing 7 less 71.28(n)
    74.39(a)
      735248  NM_001045333.1  NP_001038798.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rabex-56
    Rabex-5
    20(a)
    1 → many
    3L(1295913-1298497)
    worm
    (Caenorhabditis elegans)
    Secernentea rabx-56
    Protein RABX-5 (rabx-5) mRNA, complete cds
    25(a)
    1 → many
    III(10605349-10613169) WBGene00012644
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS9(YML097C)4 A guanine nucleotide exchange factor involved in vesicle-mediated vacuolar protein transport; specifically stimulates the intrinsic guanine nucleotide exchange activity of Vps21p/Rab5: similar to mammalian ras inhibitors; binds ubiquitin less   --   13(79690-78335) 854876  NP_013612.1 


    ENSEMBL Gene Tree for KCTD7 (if available)
    TreeFam Gene Tree for KCTD7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCTD7 gene
    GAPVD12  RABGEF12  
    12 SIMAP similar genes for KCTD7 using alignment to 4 protein entries:     KCTD7_HUMAN (see all proteins):
    RABGEF1    UTY    C12orf23    ATL2    CNOT2    FANCA
    FAM3A    GNPTAB    DAPK2    SUN3    FAM96A    KCTD14

    KCTD7 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for KCTD7
    PGOHUM00000250870 PGOHUM00000250886


    (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 KCTD7 (see all 384)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0687794
    Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)4--see VAR_0687792 R C mis40--------
    VAR_0687764
    Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)4--see VAR_0687762 R W mis40--------
    VAR_0687804
    Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)4--see VAR_0687802 N I mis40--------
    VAR_0687774
    Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)4--see VAR_0687772 L M mis40--------
    rs356941491,2
    C--65437303(-) TTAAA-/GA    
       G
    /GGA
    GAACA
    4 -- cds10--------
    rs106016981,2
    C--65445706(+) CCCAC-/ACAACAAG 2 -- cds10--------
    rs720734191,2
    C--66096694(+) ACAGG-/AAAAAA 2 -- int10--------
    rs344202651,2
    C--66097873(-) ATATA-/AT/AT 
     A
    /TA/TT
    TTTTT
    4 -- int1 cds11NA 2
    rs2009148251,2
    C--66099066(+) TATAT-/ATGTATA 2 -- int10--------
    rs681849301,2
    C--66099999(+) CTGTC-/TTTTTT 2 -- int11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for KCTD7 (66093868 - 66276446 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KCTD7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665862CNV Deletion23128226
    esv2734599CNV Deletion23290073

    Human Gene Mutation Database (HGMD): KCTD7
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing KCTD7
    DNA2.0 Custom Variant and Variant Library Synthesis for KCTD7

    (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.)
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    OMIM gene information: 611725   
    OMIM disorders: 611726  
    UniProtKB/Swiss-Prot: KCTD7_HUMAN, Q96MP8
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]: An
    autosomal recessive, severe, progressive myoclonic epilepsy with early onset. Multifocal myoclonic seizures begin
    between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with
    seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger
    movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some
    patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent
    lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Note=Defects in KCTD7 are a cause of opsoclonus-myoclonus ataxia-like syndrome. Opsoclonus myoclonus
    ataxia syndrome (OMS) is a rare pervasive and frequently permanent disorder that usually develops in previously
    healthy children with normal premorbid psychomotor development and characterized by association of abnormal eye
    movements (opsoclonus), severe dyskinesia (myoclonus), cerebellar ataxia, functional regression, and behavioral
    problems. The syndrome is considered to be an immune-mediated disorder and may be tumor-associated or idiopathic.
    OMS is one of a few steroid responsive disorders of childhood. KCTD7 mutations have been found in a patient with
    an atypical clinical presentation characterized by non-epileptic myoclonus and ataxia commencing in early
    infancy, abnormal opsoclonus-like eye movements, improvement of clinical symptoms under steroid treatment, and
    subsequent development of generalized epilepsy (PubMed:22638565)

  • 16 diseases for KCTD7:    About MalaCards
    progressive myoclonic epilepsy 3 with or without intracellular inclusions    myoclonus epilepsy    progressive myoclonus epilepsy    myoclonus
    neuronal ceroid lipofuscinosis    maturity-onset diabetes of the young    cerebellar ataxia    cholera
    ataxia    dermatitis    mental retardation    hiv-1
    neuronitis    multiple myeloma    myeloma    hepatitis


    KCTD7 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): KCTD7
    Human Genome Epidemiology (HuGE) Navigator: KCTD7 (1 document)

    Export disorders for KCTD7 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 KCTD7 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with KCTD7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. (PubMed id 22748208)1, 2 Staropoli J.F.... Cotman S.L. (Am. J. Hum. Genet. 2012)
    2. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. (PubMed id 22693283)1, 2 Kousi M.... Lehesjoki A.E. (J. Med. Genet. 2012)
    3. Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. (PubMed id 21223598)1, 4 Wineinger N.E....Tiwari H.K. (BMC Med Genomics 2011)
    4. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. (PubMed id 17455289)1, 2 Van Bogaert P.... Abramowicz M.J. (Ann. Neurol. 2007)
    5. 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. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. (PubMed id 22606975)2 Krabichler B....Haberlandt E. (Ann. Hum. Genet. 2012)

    (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: 154881 HGNC: 21957 AceView: KCTD7andLOC402538 Ensembl:ENSG00000243335 euGenes: HUgn154881
    ECgene: KCTD7 H-InvDB: KCTD7

    (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 KCTD7 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 KCTD7 gene:
    Search GeneIP for patents involving KCTD7

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



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