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FLASH GENE
Symbol RFXANK contributors: mct - updated : 03-01-2012
HGNC name regulatory factor X-associated ankyrin-containing protein
HGNC id 9987
Corresponding disease
BLS2B Bare lymphocyte syndrome type II
Location 19p13.11      Physical location : 19.303.007 - 19.312.677
Genatlas name regulatory factor for X-box B
Synonym name
  • RFX-Bdelta4
  • ankyrin repeat-containing regulatory factor X-associated protein
  • regulatory factor X subunit B
  • Synonym symbol(s) RFXB, BLS, ANKRA1
    DNA
    TYPE functioning gene
    STRUCTURE 9.67 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    regionally located between MEF2B and CSPG3
    RNA
    TRANSCRIPTS type messenger
    text two isoforms produced by alternative splicing
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1438 28 260 - 2009 19465385
  • RFX - B - delta 5 or V2
  • 9 - 1369 - 237 - 2009 19465385
  • RFXB
  • not involved in the positive regulation of MHC
  • class II genes
  • IFN-gamma up-regulates regulatory factor for X-box B (RFXB) to repress collagen transcription
  • - splicing - - - - 2009 19465385
  • splice variant of RFXB that blocks collagen repression in fibroblasts
  • did not bind to the collagen promoter and competed with RFXB for the co-repressor histone deacetylase 2 (HDAC2)
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemovary  highly
     female systemuteruscervix highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a protein-protein interaction region with five ankirin repeats
  • an ankyrin repeat domain
  • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Rfxank
    homolog to C.elegans c06a12.3
    intraspecies paralog to ANKRA2
    Homologene
    FAMILY RFX family of DNA binding protein
    CATEGORY immunity/defense , regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • transactivating DNA binding regulator, involved in MHC class II expression
  • playing a role in facilitating promoter occupation in the context of chromatin
  • targets of class IIa HDACs playing a role in regulating MHCII expression
  • positive regulator of major histocompatibility complex II (MHC II) gene expression
  • DNA binding of RFX5 is inhibited by domains flanking its DNA binding domain, and both RFXAP and RFXANK are required to overcome the inhibition of both domains
  • CELLULAR PROCESS nucleotide, genomic integrity
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text humoral defense mechanism
    PATHWAY
    metabolism
    signaling
    a component
  • subunit of the multimeric phosphoprotein complex RFX, containing RFX5, RFXANK, RFXAP
  • forms the heterotrimeric RFX complex together with RFX5 and RFXAP, all are required for expression of MHCII genes
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RFX5 and RFXAP
  • interacting with HDAC4 through its ankyrin repeat domain
  • HDAC4 and HDAC5 interact with the ankyrin repeats of ANKRA2 and RFXANK and, through association with RFXANK, repress MHC II promoter activation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BLS2B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS