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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
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