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

KCTD7 Gene

protein-coding   GIFtS: 51
GCID: GC07P066093

Potassium Channel Tetramerization Domain Containing 7

(Previous name: potassium channel tetramerisation domain containing 7)
Alzheimer's & Parkinson's Diseases Congress
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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)
About This Section

Aliases
Potassium Channel Tetramerization Domain Containing 71 2
Potassium Channel Tetramerisation Domain Containing 71 2
EPM32 5
CLN142
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 progressive myoclonus epilepsy, and among its related super-pathways are Melatonin Signaling and Activation of cAMP-Dependent PKA. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079593.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KCTD7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: KCTD7_HUMAN, Q96MP8 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein KCTD7  
Size: 289 amino acids; 33132 Da
Subunit: Interacts with CUL3
Subcellular location: Cell membrane. Cytoplasm, cytosol
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96MP8

  • KCTD7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCTD7 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001161433.1  NP_694578.1  

    ENSEMBL proteins: 
     ENSP00000275532   ENSP00000411624   ENSP00000388463   ENSP00000421074   ENSP00000370208  
     ENSP00000421124   ENSP00000398177  

    Human Recombinant Protein Products for KCTD7: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KCTD7 

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

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

    KCTD7 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
    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,
    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: KCTD7_HUMAN, Q96MP8
    Function: May be involved in the control of excitability of cortical neurons (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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 - Custom generated mouse model solutions for KCTD7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KCTD7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCTD7 
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    miRNA
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    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
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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 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

    5/13 Downloadable PowerPoint Slides of QIAGEN 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


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    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 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 KCTD7

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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:
         
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    8/39 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCTD7
    Clone
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    OriGene clones in human, mouse for KCTD7 (see all 12)
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of KCTD7 
                         Customized lentivirus expression plasmids for stable overexpression of KCTD7 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for KCTD7
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCTD7
      QIAGEN 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 

    24/329 AceView cDNA sequences (see all 329):

    AI948657 R81368 CD358434 BI818568 AW089014 AI341368 BQ010311 AA873582 
    AK056864 AI867374 AA427680 BF062025 BI759686 BM721712 AA976564 BU632202 
    BM684150 AI167602 BU101729 AL704245 AA992833 BX954067 AA485806 CA423332 

    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

    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


    See KCTD7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCTD7

    SOURCE GeneReport for Unigene cluster: Hs.546627
        SABiosciences Custom PCR Arrays for KCTD7
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    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KCTD7 gene from 6/13 species (see all 13)    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 
    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
    3(a)
    possible ortholog
    3L(1295913-1298497)
    worm
    (Caenorhabditis elegans)
    Secernentea rabx-56
    Protein RABX-5
    27(a)
    1 → many
    III(10605349-10613169)
    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)
    About This Section
    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) 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

    10/384 SNPs in KCTD7 are shown (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--------
    VAR_0687784
    ----see VAR_0687782 D Y mis40--------
    VAR_0687754
    ----see VAR_0687752 R W 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

    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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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)

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


    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)
    About This Section

    PubMed articles for KCTD7 gene, integrated from 9 sources (see all 18):
    (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 l ipofuscinosis to the ubiquitin-proteasome system. (PubMed id 22748208)1, 2 Staropoli J.F....Cotman S.L. (2012)
    2. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. (PubMed id 22693283)1, 2 Kousi M.... Lehesjoki A.E. (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. (2011)
    4. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. (PubMed id 17455289)1, 2 Van Bogaert P....Abramowicz M.J. (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. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (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. (2002)
    9. Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. (PubMed id 22606975)2 Krabichler B....Haberlandt E. (2012)
    10. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (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)
    About This Section
    Entrez Gene: 154881 HGNC: 21957 AceView: KCTD7andLOC402538 Ensembl:ENSG00000243335 euGenes: HUgn154881
    ECgene: KCTD7 H-InvDB: KCTD7

    (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 KCTD7 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 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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