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FLASH GENE
Symbol RFX2 contributors: npt/mct - updated : 20-09-2016
HGNC name regulatory factor X, 2 (influences HLA class II expression)
HGNC id 9983
Location 19p13.3      Physical location : 5.993.175 - 6.110.664
Synonym name
  • trans-acting regulatory factor 2
  • DNA binding protein RFX2
  • HLA class II regulatory factor RFX2
    • Synonym symbol(s) FLJ14226
    DNA
    TYPE functioning gene
    STRUCTURE 117.49 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - D19S177 - FUT5 - RFX2 - MLLT1 - D19S350 - C3 - VAV1 - cen
    Authors Doyle (96)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 4039 - 698 - Morotomi-Yano (2002)
    18 - 4114 - 723 - Morotomi-Yano (2002)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus    
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a specific DNA-binding domain
  • a dimerization domain
    • HOMOLOGY
    Homologene
    FAMILY
  • RFX family
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • transactivating DNA binding regulator 2,involved in MHC class II expression
  • may be important repressors of collagen gene transcription through a RFX binding site spanning the transcription start site
  • potentially an important transcriptional regulator in pachytene spermatocytes (Horvath 2009)
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to the MHC promoter box X
    RNA
    small molecule
    protein
  • interacting with RFX1, and ALMS1 (activate ALMS1 transcription during serum starvation-induced growth arrest, most likely as part of the ciliogenic program) (Purvis 2010)
  • RFX2 is essential for expression of several ciliogenic genes, including TTC25, which we show here is required for ciliogenesis, HH signaling, and left-right patterning
  • binding to the testis-specific histone HIST1H1T promoter may be required for transcriptional activation in primary spermatocytes (VanWert 2008)
  • TP73 directly activates the key regulators FOXJ1, RFX2, RFX3
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS