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FLASH GENE
Symbol KIAA1109 contributors: mct - updated : 13-02-2018
HGNC name KIAA1109
HGNC id 26953
Corresponding disease
Location 4q27      Physical location : 123.091.757 - 123.283.913
Synonym name fragile site-associated
Synonym symbol(s) KIAA1371, FSA, MGC110967, Tweek
DNA
TYPE functioning gene
STRUCTURE 210.43 kb     84 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned N linked N status provisional
regionally located cen - KIAA1109 - ADAD1 - IL2 - IL21 - qter (Van Heel 2007)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
84 - 15592 - 5005 - 2018 29290337
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue  highly
Endocrineparathyroid   highly
Nervousnervecranial nerve  highly
Reproductivefemale systembreastmammary gland highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 22 AA N-terminal transmembrane segment and a small central coiled-coil of 22 AA
  • HOMOLOGY
    interspecies ortholog to drosophila tweek
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • plays important roles in regulating mammalian epithelial growth and differentiation and tumor development
  • is potentially involved in cell cycle control, particularly of the central nervous system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ALKKKUCS
    Susceptibility
  • to type 1 diabetes and rheumatoid arhtritis
  • to autoimmune diseases (AD)
  • Variant & Polymorphism SNP
  • associations found in the KIAA1109/IL2/IL21 gene region with ADs
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS