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FLASH GENE
Symbol KCTD13 contributors: mct - updated : 19-05-2015
HGNC name potassium channel tetramerisation domain containing 13
HGNC id 22234
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Nervousbrain    
Reproductivefemale systemovary   
 female systembreastmammary gland  
 male systemtestis   
Urinarykidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • BTB/POZ domain
  • PCNA-binding motif at the C terminus
  • mono polymer dimer
    HOMOLOGY
    interspecies homolog to murine Kctd13
    Homologene
    FAMILY
    CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • may be having voltage-gated potassium channel, protein binding activities
  • providing a link between cytokine activation and DNA replication in liver as well as in other tissues
  • key driver of the mirrored neuroanatomical phenotypes of the 16p11.2 CNV, and ciliopathy-associated genes
  • KCTD13 and TNFAIP1 are interacting partners to RND proteins which influence the development of cortical neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting directly with the proliferating cell nuclear antigen(PCNA)
  • is an ubiquitin ligase that targets RHOA, offering a possible mechanistic link
  • BTB domain protein known to bind to the DNA replication and repair factor PCNA as a novel MYBL2 interaction partner
  • is able to interact with MYBL2 and PCNA simultaneously
  • KCTD13 and TNFAIP1 are interacting partners to RND proteins which influence the development of cortical neurons
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    can induce a microcephalic phenotype with concomitant reduction of neurogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS