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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
Corresponding disease
NPHP16 nephronophthisis 16
Location 9q22.33      Physical location : 101.494.291 - 101.558.794
Synonym name
  • ankyrin repeat domain 14
  • sterile alpha motif domain containing 6
  • SamCystin
  • SAM domain-containing protein 6
  • Synonym symbol(s) ANKRD14, FLJ36928, SAMD6, DKFZp686D24121, DKFZp781I0117, MGC70366, SamCystin, NPHP16, PKDR1
    DNA
    TYPE functioning gene
    STRUCTURE 64.25 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 7147 92 871 - 2013 23793029
    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