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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
DNA
TYPE functioning gene
STRUCTURE 139.06 kb     12 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 7174 - 1435 - 2003 12888926
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
Digestiveintestinelarge intestinecolon  
Reproductivefemale systembreast  highly
 male systemtestis   
Urinarybladder   highly
Visualeyeretina  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivespermatogonia
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text developing oocytes
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