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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
Physical map
MRPL42P1 4q27 KIAA1223 protein KIAA1350 FABP2 4q28-q31 fatty acid binding protein 2, intestinal LOC201989 4q27 similar to Glycerol kinase, testis specific 1 (ATP:glycerol 3-phosphotransferase) (Glycerokinase) (GK) LOC389221 4 similar to hypothetical protein LOC349114 LOC389222 4 LOC389222 LOC152972 4q27 similar to bA291L22.2 (similar to CDC10 (cell division cycle 10, S. cerevisiae, homolog)) PDE5A 4q26 phosphodiesterase 5A, cGMP-specific LOC391691 4 similar to ARHGAP20 protein MAD2L1 4q27 MAD2 mitotic arrest deficient-like 1 (yeast) LOC344988 4q27 similar to GTP-binding protein SAR1a (COPII-associated small GTPase) PRDM5 4q27 PR domain containing 5 FLJ23191 4q27 hypothetical protein FLJ23191 TNIP3 4q27 TNFAIP3 interacting protein 3 GPR103 4q27 G protein-coupled receptor 103 LOC391692 4 similar to TUBULIN BETA CHAIN ANXA5 4q26-q27 annexin A5 FLJ30834 4q27 hypothetical protein FLJ30834 PMSCL1 4q27 polymyositis/scleroderma autoantigen 1, 75kDa CCNA2 4q27 cyclin A2 BBS7 4q27 Bardet-Biedl syndrome 7 TRPC3 4q25-q27 transient receptor potential cation channel, subfamily C, member 3 KIAA1109 4q28.1 hypothetical protein KIAA1109 Tenr 4q28.1 testis nuclear RNA-binding protein IL2 4q26-q27 interleukin 2 IL21 4q26-q27 interleukin 21 FLJ35630 4q28.1 hypothetical protein FLJ35630 FGF2 4q26 fibroblast growth factor 2 (basic) NUDT6 4q26 nudix (nucleoside diphosphate linked moiety X)-type motif 6 SPATA5 4q27 spermatogenesis associated 5 SPRY1 4q26-q27 sprouty homolog 1, antagonist of FGF signaling (Drosophila) LOC391693 4 similar to ribosomal protein L21 LOC391694 4 similar to Peptidylprolyl isomerase A (cyclophilin A) LOC391695 4 similar to Tubulin alpha-4 chain (Alpha-tubulin 4) LOC391696 4 similar to Synaptic glycoprotein SC2 KIAA1223 4q28.1 KIAA1223 protein
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