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FLASH GENE
Symbol LLGL2 contributors: mct/npt - updated : 25-02-2008
HGNC name lethal giant larvae homolog 2 (Drosophila)
HGNC id 6629
Location 17q25.1      Physical location : 73.521.782 - 73.571.289
Synonym name
  • human giant larvae homolog
  • lethal giant larvae homolog 2
  • Synonym symbol(s) HGL, HUGL-2, LGL2, LGL
    DNA
    TYPE functioning gene
    STRUCTURE 49.51 kb     26 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure
  • a high basal promoter activity in different cell lines and primary human hepatocytes with a GC-rich region important for this activity
  • putative binding sites for several transcription factors including Elk-1, EGF and Sp-1 ( EGF as a suppressor and Sp-1 transcription factor as an activator of its expression)
  • MAPPING cloned Y linked N status provisional
    Physical map
    ICT1 17q25.2 immature colon carcinoma transcript 1 ATP5H 12q13 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d LOC390814 17 similar to Hypothetical protein KIAA0176 SLC16A5 17q25.3 solute carrier family 16 (monocarboxylic acid transporters), member 5 FLJ22160 17q25.2 hypothetical protein FLJ22160 NT5C 17q25.3 5', 3'-nucleotidase, cytosolic HN1 17q25.2 hematological and neurological expressed 1 SMT3H2 17q25.3 SMT3 suppressor of mif two 3 homolog 2 (yeast) PCNT1 17q25 pericentrin 1 GGA3 17q25.3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 MRPS7 17q23-25 mitochondrial ribosomal protein S7 AD023 17q25.2 AD023 protein SLC25A19 17q25.3 solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 GRB2 17q24.3-q25 growth factor receptor-bound protein 2 KIAA0195 17q25.3 growth factor receptor-bound protein 2 CASKIN2 17q25.3 CASK interacting protein 2 LOC283989 17q25.3 hypothetical protein LOC283989 LLGL2 17q24-q25 lethal giant larvae homolog 2 (Drosophila) MYO15B 17q25 myosin XVB, pseudogene LOC390815 17 similar to Myosin XV (Unconventional myosin-15) RECQL5 17q25 RecQ protein-like 5 HCNGP 17q25.3 transcriptional regulator protein ITGB4 17q24.3 integrin, beta 4 GALK1 17q24 galactokinase 1 H3F3B 17q25 H3 histone, family 3B (H3.3B) KIAA1753 17q25.3 KIAA1753 protein UNC13D 17q25.3 unc-13 homolog D (C. elegans) WBP2 17q25 WW domain binding protein 2 TRIM47 17q24.q25 tripartite motif-containing 47 LOC201292 17q25.3 hypothetical protein LOC201292 MRPL38 17q23-q25 mitochondrial ribosomal protein L38 FBF-1 17q25.3 Fas binding protein 1 ACOX1 17q25.1 acyl-Coenzyme A oxidase 1, palmitoyl CDK3 17q25 cyclin-dependent kinase 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 3547 - 1015 - Spaderna (2008)
    10 - 1440 - 356 - Spaderna (2008)
    26 - 3590 - 1020 - Spaderna (2008)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Digestiveintestinelarge intestinecolon highly
     stomach   highly
    Endocrinepancreas   highly
    Reproductiveovary    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to Drosophila DLG1(lethal giant larvae 1)
    homolog to C.elegans C52A11.4
    Homologene
    FAMILY
  • WD repeat L(2)GL family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing an essential role in control of cell proliferation and differentiation during development
  • CELLULAR PROCESS cell life, proliferation/growth
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ZEB1 (suppresses the expression of cell polarity factors, in particular of LLGL2, which we found reduced in colorectal and breast cancers) (Spaderna 2008)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to ischemic stroke
    Variant & Polymorphism SNP rs1671021 (T-->C, Phe479Leu) were significantly associated with ischemic stroke (Hamada 2010)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS