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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
    TYPE functioning gene
    STRUCTURE 9.67 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    FKBP8 19p12 FK506 binding protein 8, 38kDa MGC2749 19p13.11 hypothetical protein MGC2749 UBA52 19p13.1-p12 ubiquitin A-52 residue ribosomal protein fusion product 1 FLJ20850 19p13.11 hypothetical protein FLJ20850 CRLF1 19p12 cytokine receptor-like factor 1 C19orf4 19p12 chromosome 19 open reading frame 4 FLJ11078 19p13.11 hypothetical protein FLJ11078 MECT1 19p13 mucoepidermoid carcinoma translocated 1 COMP 19p13.1 cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) RENT1 19p13.2-p13.11 regulator of nonsense transcripts 1 GDF1 19p13.1-p12 growth differentiation factor 1 LASS1-GDF1 19p12 LAG1 longevity assurance homolog 1 (S. cerevisiae), growth differentiation factor 1 transcription unit LASS1 19p13.1-p12 LAG1 longevity assurance homolog 1 (S. cerevisiae) LOC388518 19 LOC388518 COPE 19p13.1 coatomer protein complex, subunit epsilon DDX49 19p12 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 HOMER3 19p13.11 homer homolog 3 (Drosophila) SFRS14 19p12-p11 splicing factor, arginine/serine-rich 14 MGC19595 19p13.11 hypothetical gene MGC19595 MGC26694 19p13.11 hypothetical protein MGC26694 FLJ20422 19p13.11 hypothetical protein FLJ20422 MEF2B 19p12 MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B) RFXANK 19p12 regulatory factor X-associated ankyrin-containing protein TRA16 19p13.11 TR4 orphan receptor associated protein TRA16 CSPG3 19p12 chondroitin sulfate proteoglycan 3 (neurocan) TM6SF2 19p13.3-p12 transmembrane 6 superfamily member 2 SF4 19p13 splicing factor 4 KIAA0892 19p13.11 KIAA0892 p66alpha 19p13.11 p66 alpha CLIP-2 19p13.11 cartilage intermediate layer protein-like protein 2 SSTK 19p13.11 serine/threonine protein kinase SSTK GRIM19 19p13.2 serine/threonine protein kinase SSTK FLJ44968 19p13.11 FLJ44968 protein PBX4 19p12 pre-B-cell leukemia transcription factor 4 EDG4 19p12 endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4 GMIP 19p11-p12 Gem-interacting protein CGI-152 HZF12 ZNF14 19p13.3-p13.2 zinc finger protein 14 (KOX 6) LOC390898 19 similar to sorting nexin associated golgi protein 1 MGC39821 19p13.11 hypothetical protein MGC39821
    regionally located between MEF2B and CSPG3
    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)
    Type ubiquitous
       expressed in (based on citations)
    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
    at STAGE
  • a protein-protein interaction region with five ankirin repeats
  • an ankyrin repeat domain
  • mono polymer heteromer , trimer
    interspecies homolog to murine Rfxank
    homolog to C.elegans c06a12.3
    intraspecies paralog to ANKRA2
    FAMILY RFX family of DNA binding protein
    CATEGORY immunity/defense , regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
    text humoral defense mechanism
    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
    small molecule
  • 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
    corresponding disease(s) BLS2B
    Variant & Polymorphism
    Candidate gene
    Therapy target