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FLASH GENE
Symbol GLIS2 contributors: mct/pgu - updated : 31-08-2010
HGNC name GLIS family zinc finger 2
HGNC id 29450
Corresponding disease
NPHP7 nephronophthisis 7
Location 16p13.3      Physical location : 4.382.224 - 4.389.598
Synonym name
  • Kruppel-like zinc finger protein GLIS2
  • GLI-related, Kruppel-like zinc finger protein 2
  • Gli-similar 2
  • neuronal Krueppel-like protein
  • kruppel-like zinc finger protein GLIS2
  • Synonym symbol(s) FLJ38247, NKL
    DNA
    TYPE functioning gene
    STRUCTURE 7.38 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3705 - 524 - 2007 17344476
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Endocrinepancreas   moderately Homo sapiens
    Urinarykidney   predominantly Homo sapiens
    Visualeyelens   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • five C2H2-type zinc fingers
  • HOMOLOGY
    Homologene
    FAMILY
  • subfamily of Krüppel-like zinc finger transcriptional regulators that are related to Gli and Zic proteins
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • ciliary expression
  • GLIS2 and GLIS3 proteins have been demonstrated to localize to the primary cilium, a signaling organelle that has been implicated in several pathologies, including cystic renal diseases
  • basic FUNCTION
  • required for the normal development of the posterior half of each embryonic segment
  • may be playing a role in the regulation of certain kidney functions and during embryonic development (through activation and repressor function)
  • having an essential role for the maintenance of renal tissue architecture through prevention of apoptosis and fibrosis
  • required for the maintenance of normal kidney tissue architecture and function through prevention of apoptosis and fibrosis
  • involved in neuronal differentiation, whereas the cleaved form requires coexpression of CTNND1 to have a similar effect
  • plays a critical role in the maintenance of normal kidney architecture and functions
  • can function as a transcriptional activator and that post-translational modification within its DNA-binding domain can regulate its transcriptional activity
  • can function as an activator of transcription and that its activity can be modulated by post-translational modifications
  • plays a critical role in the maintenance of normal renal functions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text kidney developement, neurogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binds effectively to the consensus Glis binding sequence (GlisBS) (G/C)TGGGGGGT(A/C)
    RNA
    small molecule
    protein
  • binding protein for CTNND1
  • interact with CTBP1 (repressed transcriptional activation induced by GLIS2)
  • cell & other
    REGULATION
    Other regulated by CTNND1 (induces the C-terminal cleavage of GLIS2, and this cleavage is further enhanced by SRC)
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHP7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS