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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AS , DUP15QP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed 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