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FLASH GENE
Symbol HECW2 contributors: mct - updated : 18-11-2021
HGNC name HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
HGNC id 29853
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   predominantly
Digestiveintestinelarge intestinecolon   Homo sapiens
Nervousbrain   predominantly
Reproductivefemale systemovary   
 male systemtestis   
Respiratorylung   predominantly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one C2 domain at its NH(2)-terminus
  • two WW domains
  • one HECT domain at its COOH-terminus
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Hecw2 (95.2pc)
    homolog to rattus Hecw2 (94.7pc)
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    basic FUNCTION
  • involved in protein modification, ubiquitin cycle
  • E3 ubiquitin-protein ligase that mediates ubiquitination of TP73, to stabilize TP73 and enhance activation of transcription by TP73
  • is a positive regulator of GDNF/Ret signaling during enteric neurogenesis
  • potential functional link between HECW2 dysfunction and brain development
  • CELLULAR PROCESS protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TP73
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDHSAL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in the aganglionic colon suggests that NEDL2 may play a role in the pathophysiology of Hirschsprung disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking NEDL2 exhibit decreased numbers of enteric neurons, progressive bowel dysmotility and intestinal hypoganglionosis