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Symbol UBE3A contributors: mct/pgu/shn - updated : 05-07-2016
HGNC name ubiquitin protein ligase E3A
HGNC id 12496
  • mice with maternal deficiency (m-/p+) for Ube3a resemble human Anagelman Syndrome with motor dysfunction, inducible seizures, and a context-dependent learning deficit
  • E6-AP knockout mice display an elevated level of Rnf2 and ubiquitinated histone H2A in various tissues, including cerebellar Purkinje neurons, which may have implications to the pathogenesis of Angelman syndrome
  • mice deficient in maternal Ube3a show enetically reversible impairments in both learning and hippocampal long-term potentiation
  • Drosophila model for Angelman Sydrome appear normal externally, but display abnormal locomotive behavior and circadian rhythms, and defective long-term memory. Flies that overexpress Dube3a in the nervous system display locomotion defects
  • dUBE3A-null mutant Drosophila exhibit reduced dendritic branching of sensory neurons in the peripheral nervous system and slowed growth of terminal dendritic fine processes
  • experience-dependent maturation of excitatory cortical circuits is severely impaired and is associated with profound impairments in neocortical plasticity in Angelman syndrome model mice deficient in Ube3a .
  • topotecan unsilenced the paternal Ube3a allele in several regions of the mouse nervous system, including neurons in the hippocampus, neocortex, striatum, cerebellum and spinal cord