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FLASH GENE
Symbol IRF6 contributors: mct/npt/pgu - updated : 06-03-2015
HGNC name interferon regulatory factor 6
HGNC id 6121
Corresponding disease
OFC6 orofacial cleft 6
PPS popliteal pterygium syndrome
VWS van der Woude syndrome
Location 1q32.2      Physical location : 209.961.261 - 209.979.479
Synonym symbol(s) HIRF6, LPS, PIT, OFC6, PPS, PPS1, VWS, VWS1
DNA
TYPE functioning gene
STRUCTURE 20.55 kb     9 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 4505 53 467 - 2005 15939375
7 - 4256 - 372 - 2005 15939375
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 mouth   highly
Nervousbrain    
Reproductivemale systemprostate   
Respiratoryrespiratory tracttrachea  highly
Skin/Tegumentskin appendageshairfollicle  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text tooth buds, fusing palate
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminal helix-turn-helix DNA binding domain
  • a C-terminal SMAD-IRF binding domain (SMIR) (protein-binding domain)
  • a highly conserved N-terminal, DNA-binding domain and a less well-conserved protein-binding domain (Little 2009)
  • HOMOLOGY
    interspecies ortholog to murine Irf6
    homolog to C.elegans F32B6.8
    intraspecies homolog to IRF4
    Homologene
    FAMILY
  • interferon regulatory transcription factor (IRF) family
  • CATEGORY regulatory , transcription factor , signaling cytokine
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • playing a key role in the development of lip and palate, skin, external genitalia
  • functioning as a co-operative transcriptional activator
  • plays a key role in the formation and maintenance of the oral periderm, spatio-temporal regulation of which is essential for ensuring appropriate palatal adhesion
  • IRF6 and the Notch ligand JAG2 function in convergent molecular pathways during oral epithelial differentiation
  • regulates craniofacial development and epidermal proliferation
  • function for IRF6 in suppression of tumorigenesis in stratified epithelia
  • potential tumor suppressor gene in squamous cell carcinomas, acting on a gene network that contributes to the regulation of cancer cell invasiveness and proliferation
  • essential role in epidermal development, is induced in differentiation through a NOTCH1-dependent mechanism and is a primary NOTCH1 target in keratinocytes
  • IRF6 and GRHL3 are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text involved in palate formation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacting with SFN for the keratinocyte proliferation-differentiation switch
  • interacting with JAG2 (IRF6 and JAG2 function in convergent molecular pathways during development of the oral ectoderm)
  • OVOL1 is directly bound by IRF6, and its expression is significantly altered in IRF6-depleted differentiating keratinocytes
  • primary NOTCH1 target in keratinocytes, which contributes to the role of this pathway in differentiation and tumour suppression
  • interaction of IRF6 and TGFA contribute to subsets of CL/P with specific dental anomalies
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) VWS , PPS , OFC6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in squamous cell carcinomas
    Susceptibility
  • to isolated cleft lip and palate
  • Variant & Polymorphism SNP
  • significant correlation between IRF6 rs642961 and non-syndromic cleft lip with or without cleft palate
  • de novo mutations in IRF6, TFAP2A, and ZFHX4 are associated with Orofacial clefts
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS