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FLASH GENE
Symbol FOXA2 contributors: mct/ - updated : 11-06-2008
HGNC name forkhead box A2
HGNC id 5022
Location 20p11.21      Physical location : 22.561.642 - 22.566.101
Synonym name
  • hepatocyte nuclear factor 3, beta
  • HNF-3-beta
  • transcription factor 3B
  • Synonym symbol(s) FKHL11B, FOXL2, HNF3B, TCF3B, MGC19807
    DNA
    TYPE functioning gene
    STRUCTURE 4.46 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC391233 20 similar to Homeobox protein Nkx-2.4 (Homeobox protein NKX2.4) (Homeobox protein NK-2 homolog D) GSTM3P 20p11.22 glutathione S-transferase M3 pseudogene NKX2-2 20p11.22 NK2 transcription factor related, locus 2 (Drosophila) LOC388792 20 LOC388792 PAX1 20p11.2 paired box gene 1 SLC25A6P1 20p11 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1 RPL41P1 20p11.23-p11.21 ribosomal protein L41, pseudogene 1 ST13P 20p11.22 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene C20orf56 20 chromosome 20 open reading frame 56 FOXA2 20p11 forkhead box A2 KRT18P3 Xq21 keratin 18 pseudogene 3 CYB5P4 20p11.2 cytochrome b-5 pseudogene 4 SSTR4 20p11.2 somatostatin receptor 4 THBD 20p11.2 thrombomodulin C1QR1 20pter-p12-3 complement component 1, q subcomponent, receptor 1 LOC200261 20p11.22 hypothetical protein LOC200261 NXT1 20p12-p11.2 NTF2-like export factor 1 LOC149913 20p11.21 hypothetical LOC149913 ZNF336 20p12.3-p11.21 zinc finger protein 336 NAPB 20p12.3-p11.21 N-ethylmaleimide-sensitive factor attachment protein, beta CSTL1 20p11.21 cystatin-like 1 CST11 20p11.21 cystatin 11 CST8 20p11.22-p11.21 cystatin 8 (cystatin-related epididymal specific) IMAGE:4837709 20p11.21 cystatin pseudogene LOC128820 20p11.21 cystatin pseudogene CST9L 20p11.21 cystatin 9-like (mouse) bA218C14.3 20p11.21 cystatin 9 CST3 20p11.22-p11.21 cystatin C (amyloid angiopathy and cerebral hemorrhage)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2428 48.3 457 - 2008 17715393
    3 - 2415 48.3 457 - 2008 17715393
    FOXA2-V2 differs in the 5'UTR compared to FOXA2-V1
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     stomach    
    Reproductivefemale systemuteruscervix  
    Respiratorylung    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Respiratoryepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text visceral, definitive endoderm, endodermal cells, node, notochord, floorplate
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a forkhead (FH, winged helix) domain
  • two loops-wings on the C terminal side of helix-turn-helix homeodomain
  • HOMOLOGY
    interspecies homolog to Drosophila homeo forkhead DNA binding domain
    homolog to murine Foxa2
    Homologene
    FAMILY
  • HNF-3 forkhead family of transcriptional activators
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • activator of gene expression in hepatocytes (such as albumin and transthyretin), respiratory and intestinal epithelia
  • regulates a complex pulmonary program of epithelial cell maturation required for transition to air breathing at birth
  • important in regulation of prothrombin expression
  • represses transcription of OATP8
  • regulates 5-aminolevulinate synthase gene expression and is involved in insulin repression
  • may be a novel tumor suppressor gene in lung cancer
  • regulating with nuclear factor 1 the 5-aminolevulinate synthase gene (ALAS1) expression and involved in insulin repression
  • required for cell-specific activation of the glucagon gene in pancreatic islet alpha-cell
  • playing a role in opening the chromatin at the start site of transcription of the glucagon gene
  • playing an important role in MUC2 mucin expression in the intestine during goblet cell differentiation
  • important regulator of MUC2 expression in the intestine
  • cooperate with FOXA1 during liver and lung morphogenesis
  • regulate multiple phases of midbrain dopaminergic neuron development in a dosage-dependent manner
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text required in visceral endoderm for normal primitive streak morphogenesis
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA interacting with chromatin
    RNA
    small molecule
    protein
  • cooperating with GRL to activate genes that code for proteins involved in glucose homeostasis, namely PEPCK (PCK1, PCK2), TAT, IGFBP1, unlikely to be a common cause of NIDDM
  • specific binding of FOXA2 to GFER promoter and this binding was inducible when the cells were simultaneously stimulated with IL6
  • colocalizes with NEUROG3 in pancreatic progenitors, thus indicating a primary role for this factor in regulating NEUROG3 expression
  • cell & other
    REGULATION
    induced by HNF6 in hepatoma cells
    Other activation of phosphatidylinositol3-kinase-akt by insulin induces Foxa2 phosphorylation, nuclear exclusion and inhibition of FOXA2-dependent transcriptional activity
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to sporadic cas of maturity-onset diabetes of the young
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutant-/-have right expression of LEFTY2, (not NODAL), lack foregut and midgul endoderm and show anomalies of left-right (L/R) asymetry
  • chronic hyperinsulinemia in insulin-resitant syndromes in mice results in the cytoplasmic localization and inactivation of Foxa2, promoting lipid accumulation and insulin resistance in the liver