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FLASH GENE
Symbol ARID5B contributors: mct/pgu - updated : 12-03-2012
HGNC name AT rich interactive domain 5B (MRF1-like)
HGNC id 17362
Location 10q21.2      Physical location : 63.661.012 - 63.856.707
Synonym name
  • modulator recognition factor 2
  • developmentally and sexually retarded with transient immune abnormalities
  • ARID domain-containing protein 5B
  • Synonym symbol(s) DESRT, MRF2, FLJ21150, RP11-341A19.1, Mrf1-like
    DNA
    TYPE functioning gene
    STRUCTURE 195.70 kb     10 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 7032 - 945 - 2001 1148357
    10 - 7948 132.2 1188 - 2001 1148357
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Endocrineparathyroid   moderately
    Hearing/Equilibriumear   predominantly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systembreastmammary gland moderately
     female systemovary  highly
     female systemuterus  highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarybladder   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    cell lineage
    cell lines
    fluid/secretion moderately in blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a ARID domain mediating the interaction with DNA
  • HOMOLOGY
    interspecies homolog to rattus Arid5b (87.7 pc)
    homolog to murine Arid5b (88.1 pc)
    Homologene
    FAMILY
  • ARID (A.T rich interaction domain) family of transcription factor
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • acting as a transcription regulator
  • repressing the cytomegalovirus enhancer
  • acting as a regulator of smooth muscle cell differentiation and proliferation (induction of smooth muscle marker genes by overexpression)
  • may be involved in lipid stores
  • being a potential regulator of adipocyte differentiation and a potential repressor of . can be a potential regulator of adipocyte differentiation and a potential repressor of leptin
  • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • PHF2-ARID5B complex is a signal-sensing modulator of histone methylation and gene transcription, in which phosphorylation of PHF2 enables subsequent formation of a competent and specific histone demethylase complex
  • INTERACTION
    DNA binding to the 5'-AATA[CT]-3' core sequence
    RNA
    small molecule
    protein
  • phosphorylated PHF2 then associates with ARID5B, a DNA-binding protein, and induce demethylation of methylated ARID5B
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to to childhood acute lymphoblastic leukemia
  • to Systemic lupus erythematosus (SLE)
  • Variant & Polymorphism SNP
  • association of 5 SNPs [rs7073837, rs10994982, rs10740055 , rs10821936 and rs7089424] in the ARID5B gene with childhood acute lymphoblastic leukemia
  • genetic variants increasing the risk of Systemic lupus erythematosus (SLE)
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabetemetabolic syndrom 
    suppression of ARID5B could be an effective treatment for obesity and diabetes
    ANIMAL & CELL MODELS
    knockout mice