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FLASH GENE
Symbol HMG20B contributors: mct - updated : 19-05-2016
HGNC name high-mobility group 20B
HGNC id 5002
Location 19p13.3      Physical location : 3.572.942 - 3.579.079
Synonym name
  • BRCA2-associated factor 35
  • Sox-like transcriptional factor
  • HMG domain-containing protein HMGX2
  • SMARCE1-related protein
  • SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E, member 1-related
  • Synonym symbol(s) SOXL, HMGX2, BRAF35, BRAF25, SMARCE1r, HMGXB2, PP7706
    DNA
    TYPE functioning gene
    STRUCTURE 6.14 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2600 35.8 317 low expression 2000 10773667
    lacking exon 3
    10 splicing 1584 - 317 prostate, testis, heart, kidney, brain, spleen, lung, skeletal muscle 2000 10773667
    - - 1520 - 215 in prostate cancer cells 2002 12083779
  • a truncated high mobility group domain, a kinesin-like coiled-coil domain and multiple Src homology 2 (SH2) motifs
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Digestiveliver    
    Endocrinepancreas    
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text placenta, proliferating embryonic tissues,eye,lens,anterior segment,retina, RPE,choroid
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a non-specific DNA binding high-mobility-group domain
  • a kinesin-like coiled-coil domain
  • a high-mobility group (HMG) domain
  • (C)-terminal region that is essential for cytokinesis, that it is inactivated by a cancer-associated mutation, and is necessary and sufficient not only for its localization to cytokinetic structures, but also for its interaction with the tumor suppressor BRCA2, implicated in the abscission step of cytokinesis
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murne Hmg20b
    intraspecies paralog to HMG20A
    Homologene
    FAMILY HMG20 box family
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text associating with chromatin as a BRCA2/HMG20B complex
    basic FUNCTION
  • involved in the regulation of transcription and chromatin conformation
  • component of a co-repressor complex that is required for the repression of REST-responsive genes
  • novel function for HMG20B in cytokinesis is regulated by its interaction with the BRC repeats of BRCA2
  • acts as an inhibitor of erythroid differentiation, through the down-regulation of genes involved in differentiation such as PLA2G16, and activation of repressors of differentiation such as GFI1
  • in addition, suppresses embryonic beta-like globins
  • HMG20A can replace HMG20B and, therefore, they are mutually exclusive subunits of the complex
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    text cell cycle progression
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with BRCA2
  • member of a co-repressor complex required for the repression of neural specific genes in neuronal progenitors
  • is able to form heterodimers with its homologous protein HMG20A
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • direct interaction of beta-dystrobrevin(DTNB) with the HMG20 proteins HMG20A and HMG20B, suggesting that DTNB may be involved in regulating chromatin dynamics, possibly playing a role in neuronal differentiation
  • binds directly to the BRC repeats of BRCA2, and exhibits the highest affinity for BRC5, a motif that binds poorly to RAD51
  • is modified by SUMO and this modification is relevant for transcriptional repression of neuronal specific genes and to inhibit neuronal differentiation
  • interplay between HMG20B and HMG20A controls the activity of the KDM1A–RCOR2 complex during neuronal differentiation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    is sufficient to inhibit neurogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS