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FLASH GENE
Symbol ASXL2 contributors: mct/npt/pgu - updated : 29-11-2016
HGNC name additional sex combs like 2 (Drosophila)
HGNC id 23805
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ASXN domain (codon 1-8)
  • ASXM domain (codon 269-380)
  • PHD domain (codon 1400-1431)
    • HOMOLOGY
    interspecies homolog to ASXL1
    Homologene
    FAMILY
  • ASXL family, Enhancers of trithorax and Polycomb (ETP)family
    • CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • predicted cancer-associated gene
  • may be having a role in the heart, suggesting that the Polycomb-group (PcG)/trithorax-group (trxG) system may be involved in the regulation of cardiac function
  • promotes transactivation activity of ligand-bound PPARG, as well as its adipocyte differentiation-inducing activity
  • ASXL1 and ASXL2 reciprocally regulate adipogenesis
  • ASXL1 acts as a corepressor in PPAR-mediated transcription, whereas ASXL2 acts as a coactivator
  • is required for the long-term maintenance of ventricular function and for the maintenance of normal cardiac gene expression
  • having function in the adult heart to regulate cell type- and stage-specific patterns of gene expression, and the disruption of such regulation may be involved in the etiology and/or development of certain forms of human heart disease
  • reciprocal role of the ASXL1, ASXL2 in lipid homeostasis through the opposite regulation of NR1H3
  • ASXL2 and ASXL1, two homologous chromatin factors, are novel regulators of heart development
  • ASXL2 plays an important role in heart morphogenesis and the transition from fetal to postnatal circulation
  • is required for proper heart development and function
  • ASXL2 and WTIP are involved in regulation of retinoic acid signaling during heart development
  • is a master regulator of skeletal, lipid, and glucose homeostasis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ASXL2 increased NR1H3 activity through direct interaction in the presence of the ligand
  • WTIP is a ASXL2-binding partner
  • interacts with PPARG
  • ASXL1 and ASXL2 use their ASXM domains to interact with the C-terminal domain (CTD) of BAP1, and these interactions are required for ubiquitin binding and HIST2H2AC deubiquitination
  • BAP1 interaction with ASXL2 regulates cell senescence and ASXL2 cancer-associated mutations disrupt BAP1 DUB activity
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SHAPNS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fusion with EPC1 (EPC1/ASXL2 enhanced cell growth in T-leukemia cells)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Asxl2-/- mice display congenital heart malformations including a thickened compact myocardium in the left ventricle, membranous ventricular septal defects, and dilated cardiomyopathy
  • Asxl2-/- mice are insulin resistant, lipodystrophic, and fail to respond to a high-fat diet