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FLASH GENE
Symbol HEATR2 contributors: mct - updated : 17-11-2012
HGNC name HEAT repeat containing 2
HGNC id 26013
Corresponding disease
ICS20 immotile cilia syndrome 20
Location 7p22.3      Physical location : 766.337 - 826.116
Synonym symbol(s) FLJ20397, FLJ31671, FLJ39381, FLJ25564
DNA
TYPE functioning gene
STRUCTURE 59.78 kb     13 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 3424 93.4 855 - 2012 23040496
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialabsorptive excretoryalveolar epithelium   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Respiratoryepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • HEAT repeat
  • HOMOLOGY
    Homologene
    FAMILY
  • HEAT-repeat-containing proteins family
  • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text
  • in airway epithelial cells is localized to the cytoplasm and not in cilia
  • basic FUNCTION
  • potentially playing a role in either dynein arm transport or assembly
  • essential for the preassembly or stability of the axonemal dynein arms
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS20
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS