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FLASH GENE
Symbol IFT172 contributors: mct - updated : 07-09-2022
HGNC name intraflagellar transport 172 homolog (Chlamydomonas)
HGNC id 30391
Corresponding disease
BBS20 Bardet-Biedl syndrome 20
RP71 retinitis pigmentosa 71
RPPAS2 renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, skeletal dysplasia 2
Location 2p23.3      Physical location : 27.667.240 - 27.712.571
Synonym name
  • intraflagellar transport 172, mouse, homolog of
  • selective LIM binding factor, rat homolog
  • Synonym symbol(s) KIAA1179, SLB, wim, osm-1
    DNA
    TYPE functioning gene
    STRUCTURE 45.33 kb     48 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    48 - 5430 - 1749 - 2009 18930042
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
    Lymphoid/Immunethymus   predominantly
    Reproductivefemale systemuteruscervix moderately
     male systemtestis  moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine N-terminal WD-40 domain
  • a LIM domain
  • a nuclear localization signal
  • 14 C-terminal TPR (tetratricopeptide repeat) domains
  • HOMOLOGY
    interspecies ortholog to murine Ift172
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • localized to the axoneme and around the base of the cilium
  • basic FUNCTION
  • playing a possible role in modulating the transcriptional activity of specific LIM factors
  • is potentially required for early regulation of FGF8 at the midbrain-hindbrain boundary and maintenance of the isthmic organizer
  • required for anterograde ciliary trafficking
  • required for ciliogenesis and Hedgehog (Hh) signaling
  • essential role of IFT172, a complex B subunit, in the flagellar entry of IFT (intraflagellar transport)-dynein (complex B carrying IFT-dynein into the flagella while complex A mediates the flagellar exit of IFT-dynein)
  • IFT172 and KIFAP3 could regulate ciliary functions important for Hedgehog signaling
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • IFT-B component
  • intraflagellar transport proteins IFT172, IFT80, IFT57, TRAF3IP1, CLUAP1, and IFT20 form a stable tubulin-binding IFT-B2 complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LHX3
  • LHX4
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RPPAS2 , RP71 , BBS20
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutation of Ift172 in mouse results in a specific class of abnormal cilia, causing disrupted Hh signaling while maintaining L-R axis determination, and resulting in the VACTERL-H phenotype