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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
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systembreastmammary gland  
 female systemuteruscervix  
Urinarykidney    
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cell lineage
cell lines
fluid/secretion
at STAGE
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