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FLASH GENE
Symbol ANKS6 contributors: mct - updated : 14-10-2015
HGNC name ankyrin repeat and sterile alpha motif domain containing 6
HGNC id 26724
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY NPHP family
CATEGORY unknown/unspecified
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytoskeleton,microtubule
text
  • localizes to the proximal cilium
  • basic FUNCTION
  • involvement as a modifier gene in cystic kidney disease
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BICC1 and ANKS6 interact at the protein level suggesting that they function in a common molecular pathway that when perturbed, is involved in cystogenesis
  • ANKS6 is a new NPHP family member that connects NEK8 (NPHP9) to INVS (NPHP2) and NPHP3
  • INVS and NPHP3 cooperate and promote ANKS6 phosphorylation by NEK8 in renal cilia
  • NME3 binds to several NPHPs, including NEK8, CEP164, and ankyrin repeat and sterile &
  • 945; motif domain-containing 6 (ANKS6)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHP16
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS