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FLASH GENE
Symbol GRHL2 contributors: mct - updated : 25-08-2015
HGNC name grainyhead-like 2 (Drosophila)
HGNC id 2799
Corresponding disease
DFNA28 neurosensory deafness 28
ECTDS ectodermal dysplasia/short stature syndrome
PPCD4 posterior polymorphous corneal dystrophy 4
Location 8q22.3      Physical location : 102.504.667 - 102.681.950
Synonym name
  • transcription factor cellular promoter-like 3
  • Brother-of-Mammalian Grainyhead
  • Synonym symbol(s) FLJ13782, TFCP2L3, BOM, DFNA28, FLJ11172, MGC149294, MGC149295, BOM, DFNA28, ECTDS
    DNA
    TYPE functioning gene
    STRUCTURE 177.29 kb     16 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 5231 - 625 - 2008 17921507
    - - - - 609 - 2008 17921507
  • alternatively spliced exon 1 that is extended with 60 nucleotides from intron 1, immediately downstream of exon 1
  • lacks the first 16 amino acids of isoform 1
  • regulate transcription differently compared to isoform 1
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea highly Homo sapiens
    Reproductivefemale systemplacenta    Homo sapiens
    Respiratorylung   highly Homo sapiens
    Skin/Tegumentskin     Homo sapiens
    Urinarykidney   highly Homo sapiens
    Visualeyeanterior segmentcornea highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorystato-auditory  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell Homo sapiens
    Olfactoryepithelial cell Homo sapiens
    Respiratoryepithelial cell Homo sapiensAdult
    Respiratoryepithelial cell Homo sapiensFetal
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Tcfcp2l3
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • may play important roles in mammalian development
  • functions in epithelial cell maintenance throughout life
  • acts as a target gene-associated transcriptional activator of apical junctional complex components and, thereby, crucially participates in epithelial differentiation
  • cooperative roles of the GRHL genes in epidermal development
  • regulates neural tube closure and adhesion molecule expression during neural fold fusion
  • major role for GRHL2 in the suppression of oncogenic EMT in breast cancer cells
  • transcription factor that regulates the size of luminal space surrounded by polarized epithelial cells
  • GRHL2 and NKX2-1 form a regulatory loop that coordinates lung epithelial cell morphogenesis and differentiation
  • transcription factor that regulates TERT gene expression and enhances proliferation of normal human epidermal keratinocytes
  • crucial role of GRHL2 in epithelial activation in lung fibrosis and perhaps also in epithelial plasticity
  • play essential roles during epithelial development
  • conserved Grhl2-coordinated gene network controls trophoblast branching morphogenesis, thereby facilitating development of the site of feto-maternal exchange
  • acts as a transcriptional activator and strongly associates with histone H3 lysine 4 trimethylation
  • GRHL2/OVOL2 network controlling CLDN4 and RAB25 expression that facilitates lumen expansion and barrier formation in subtypes of renal epithelia
  • play a number of roles in ectoderm development and maintenance in mammals
  • has an important role in epithelial morphogenesis through trans-activation of genes required for the formation of the apical junctional complex and repression of EMT
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterodimerize with GRHL1 and GRHL3
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transcription factor that binds to and regulates the activity of the human telomerase reverse transcriptase TERT gene promoter (regulates the TERT expression through an epigenetic mechanism and controls the cellular life span)
  • regulates epithelial morphogenesis through transcriptional up-regulation of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localization at TJs
  • impairs epidermal differentiation by inhibiting EDC@ gene expression through epigenetic mechanisms
  • GRHL2 transactivated a group of genes including OVOL2, encoding the ovo-like 2 zinc finger transcription factor, as well as CDH1, CLDN4, and the small GTPase RAB25
  • transcription factor that suppresses epithelial-to-mesenchymal transition (EMT) and is a direct transcriptional repressor of ZEB1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA28 , ECTDS , PPCD4
    Susceptibility to age-related hearing impairment
    Variant & Polymorphism other variant increasing the risk of age-related hearing impairment
    Candidate gene
    Marker
  • gain of GRHL2 might be a predictive marker for hepatocellular carcinoma recurrence
  • Therapy target
    ANIMAL & CELL MODELS
  • up-regulation of grainyhead-like 2 (Grhl2) in Axial defects mutant embryos, over-expression of Grhl2 causing cranial neural tube defects
  • placentas from Grhl2-deficient mouse embryos displayed defects in BCT cell polarity and basement membrane integrity at the chorioallantoic interface, as well as a severe disruption of labyrinth branching morphogenesis