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FLASH GENE
Symbol ANKRD17 contributors: mct/npt - updated : 07-07-2021
HGNC name ankyrin repeat domain 17
HGNC id 23575
Corresponding disease
IDGDCD intellectual disability, growth delay, cardiovascular abnormalities, deafness
Location 4q13.3      Physical location : 73.940.502 - 74.124.502
Synonym name
  • cDNA sequence,expressed in brain,86kDa
  • gene trap ankyrin repeat
  • serologically defined breast cancer antigen NY-BR-16
    • Synonym symbol(s) KIAA0697, GTAR, NY-BR-16, MASK2, FLJ22206
    DNA
    TYPE functioning gene
    STRUCTURE 186.39 kb     33 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    34 - 10797 274 2603 - 2021 33909992
    33 - 10044 260 2352 ubiquitous 2021 33909992
    34 - 10794 - 2602 - 2021 33909992
    34 - 10358 - 2490 - 2021 33909992
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Reproductivefemale systemuterus   
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two clusters of a total 25 ankyrin repeats at its N terminus
  • one NES (nuclear exporting signal)
  • one NLS (nuclear localization signal) in the middle
  • one RXL motif at its C terminus
    • HOMOLOGY
    interspecies ortholog to murine Gtar
    intraspecies paralog to ANKHD1
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    intracellular,nuclear envelope
    text localized to the nucleus (Deng 2009)
    basic FUNCTION
  • may be directly involved in the DNA replication process
  • is an important downstream effector of cyclin E/CDK2 and positively regulates G1/S transition (Deng 2009)
  • indispensability of ANKRD17 functioning for vascular maturation during early development
  • is a positive regulator of the RLR signaling pathway
  • novel function for ANKRD17 in anti-bacterial innate immune pathways
  • ankyrin repeat-containing protein thought to play a role in cell cycle progression
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with DNA replication factors including MCM family members, CDC6 and PCNA (Deng 2009)
  • ANKRD17 interacts with the cyclin E/CDK2 complex, promotes cell cycle progression, and associates with DNA replication factors and chromatin
  • ANKRD17 interacts with DDX58, IFIH1, and MAVS and upregulates RLR-mediated immune signaling
  • ANKRD17 is a novel binding partner of NOD2 and its N-terminal domain mediates NOD2 binding
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IDGDCD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    promotes S phase entry (Deng 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • may have a potential value as an additional marker for the existing multitarget assay panel for colorectal cancer detection
    • Therapy target
    ANIMAL & CELL MODELS
  • homozygous Ankrd17 deficiency in mice results in abnormal vascular maturation, hemorrhage, and lethality by embryonic day (E) 11.5
  • Ankrd17-deficient mice died between embryonic day (E) 10.5 and E11.5 due to cardiovascular defects