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FLASH GENE
Symbol IQCE contributors: mct - updated : 06-02-2020
HGNC name IQ motif containing E
HGNC id 29171
Corresponding disease
PAPA7 Polydactyly, postaxial, type A7
Location 7p22.3      Physical location : 2.598.631 - 2.654.367
Synonym symbol(s) KIAA1023, MGC41907, 1700028P05Rik, PAPA7
DNA
TYPE functioning gene
STRUCTURE 55.73 kb     22 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 6793 - 630 - 2017 28488682
22 - 6857 - 695 - 2017 28488682
21 - 2500 - 702 - 2017 28488682
20 - 2452 - 686 - 2017 28488682
19 - 2406 - 637 - 2017 28488682
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemuterus   
Respiratoryrespiratory tractlarynx  highly
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one 1 iq domain
  • one myosin head-like domain
  • HOMOLOGY
    interspecies ortholog to murine Iqce
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • playing a role in cytokinesis, cell shape, and specialized functions such as secretion and capping
  • EFCAB7 and IQCE are positive regulators of HH signaling
  • involvement of the IQCE gene in limbs development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complex between two ciliary proteins, EFCAB7 and IQCE, which positively regulates the HH pathway
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EFCAB7 and IQCE are EVC2-interacting proteins, and EVC2 appeared to play the most central role in complex assembly, interacting with EVC, EFCAB7 and IQCE ( . EFCABCE are positive regulators of HH signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PAPA7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS