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FLASH GENE
Symbol KCTD7 contributors: mct/npt - updated : 31-05-2017
HGNC name potassium channel tetramerisation domain containing 7
HGNC id 21957
Corresponding disease
CLN14 ceroid-lipofuscinosis, neuronal, 14
EPM3 myoclonic epilepsy 3
Location 7q11.21      Physical location : 66.093.867 - 66.108.038
Synonym symbol(s) FLJ32069, EPM3
DNA
TYPE functioning gene
STRUCTURE 14.35 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
Physical map
MGC12518 7q11.21 similar to ZINC FINGER PROTEIN 257 (BONE MARROW ZINC FINGER 4) (BMZF-4) LOC389505 7 LOC389505 ZNF117 7q11.2 zinc finger protein 117 (HPF9) H-plk 7q11.21 Krueppel-related zinc finger protein FLJ25037 7q11.21 hypothetical protein FLJ25037 LOC389506 7 LOC389506 ZNF92 19p13.1-p12 zinc finger protein 92 (HTF12) LOC392054 7 similar to protein kinase related to Raf protein kinases; Method: conceptual translation supplied by author LOC389507 7 similar to hypothetical protein FLJ25037 LOC392055 7 similar to protein kinase related to Raf protein kinases; Method: conceptual translation supplied by author LOC392056 7 similar to metabotropic glutamate receptor 8; G protein-coupled receptor, family C, group 1, member H LOC389508 7 similar to hypothetical protein MGC16733 similar to CG12113 LOC389509 7 similar to RIKEN cDNA 2610034N24 LOC389510 7 LOC389510 DKFZp434F142 7q11.21 hypothetical protein DKFZp434F142 LOC154807 GUSB 7q22.1 glucuronidase, beta LOC392057 7 similar to Gcp16 protein ASL 7cen-q11.2 argininosuccinate lyase RCP9 7q11.21 calcitonin gene-related peptide-receptor component protein TPST1 7q11.21 tyrosylprotein sulfotransferase 1 LOC285908 7q11.21 hypothetical protein LOC285908 TCEB1P 5q31.1 transcription elongation factor B (SIII), polypeptide 1 pseudogene LOC389511 7 similar to RAB guanine nucleotide exchange factor (GEF) 1 LOC346329 7q11.21 similar to Guanine nucleotide-binding protein, alpha-11 subunit (GL2) LOC389512 7 LOC389512 LOC154880 7q11.21 similar to 60S ribosomal protein L35 KCTD7 7q11.21 potassium channel tetramerisation domain containing 7 RABGEF1 7q11.21 RAB guanine nucleotide exchange factor (GEF) 1 LOC285911 7q11.22 similar to ribosomal protein L31 FLJ10099 7q11.22 hypothetical protein FLJ10099 SBDS 7q11.21 Shwachman-Bodian-Diamond syndrome FLJ10900 7q11.22 hypothetical protein FLJ10900 LOC155081 7q11.22 hypothetical gene supported by AL137266 LOC389513 7 similar to PMS5 homolog mismatch repair protein - human FLJ13195 7p11.2-q11.2 hypothetical protein FLJ13195 similar to stromal antigen 3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 4847 - 289 - 2012 22693283
5 - 3886 - 288 - 2012 22693283
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
NervousPurkinje cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal bric brac, tramtrack, and broad complex/poxvirus zinc finger (BTB/POZ) domain that is homologous to the T1 tetramerization domain of voltage-gated potassium channels
  • mono polymer heteromer , tetramer , complex
    HOMOLOGY
    interspecies homolog to murine Kctd7
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • may have a voltage-gated K+ channel activity
  • is a regulator of potassium conductance in neurons
  • hyperpolarizes cells in a K+ dependent manner and regulates activity of the neuronal glutamine transporter SLC38A2
  • has an impact on K+ fluxes, neurotransmitter synthesis and neuronal function, and its malfunction may lead to progressive myoclonus epilepsy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to form a K+ channel complex
  • regulates activity of the neuronal glutamine transporter SLC38A2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EPM3 , CLN14
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS