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FLASH GENE
Symbol UBE3A contributors: mct/pgu/shn - updated : 05-07-2016
HGNC name ubiquitin protein ligase E3A
HGNC id 12496
ASSOCIATED DISORDERS
corresponding disease(s) AS , DUP15QP
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional imprinting      
included in PWS/AS typically deleted region, maternally expressed in brain
constitutional     --over  
in autism (by maternal duplication)
constitutional imprinting      
epigenetic aberrations at the PWS/AS imprinting center affecting UBE3A expression in RETT syndrome
constitutional     --over  
promoted NCO3A degradation
constitutional       loss of function
in neurons leads to an increase in ARC expression and a concomitant decrease in the number of AMPA receptors at excitatory synapses
constitutional       loss of function
results in an elevated level of ubiquitinated nucleosomal histone H2A and in increased global repressive transcriptional activity, which may contribute to the pathogenesis of Angelman syndrome
constitutional     --over  
in Hereditary spastic paraplegias (HSPs) with intellectual disability (ID)
Susceptibility to autism
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurology  
topotecan unsilences paternal Ube3a allele
ANIMAL & CELL MODELS
  • 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