Gene: UBE3A

Alternate names for this Gene: ANCR|AS|E6-AP|EPVE6AP|HPVE6A

Gene Summary: This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined.

Gene is located in Chromosome: 15

Location in Chromosome : 15q11.2

Description of this Gene: ubiquitin protein ligase E3A

Type of Gene: protein-coding

Gene: SNHG14

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1555379684 in UBE3A;SNHG14 gene and Angelman Syndrome PMID 25212744 2014 Mutation Update for UBE3A variants in Angelman syndrome.

PMID 9585605 1998 Mutation analysis of UBE3A in Angelman syndrome patients.

PMID 27467454 2016 Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 25782669 2015 Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

PMID 11748306 2001 Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

PMID 20034088 2010 A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.

PMID 9887341 1999 The spectrum of mutations in UBE3A causing Angelman syndrome.

PMID 14981718 2004 Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.

PMID 19213023 2009 Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.

rs1555391286 in UBE3A;SNHG14 gene and Dysmorphic features PMID 26219744 2015 The neurobehavioral and molecular phenotype of Angelman Syndrome.

PMID 25884337 2015 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

PMID 25212744 2014 Mutation Update for UBE3A variants in Angelman syndrome.

PMID 19213023 2009 Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.

PMID 22670133 2012 Molecular and Clinical Aspects of Angelman Syndrome.

PMID 24876791 2014 Angelman syndrome: review of clinical and molecular aspects.

PMID 15263005 2004 Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.

PMID 8988171 1997 UBE3A/E6-AP mutations cause Angelman syndrome.

PMID 2309781 1990 Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

PMID 17765640 2008 Are there distinctive sleep problems in Angelman syndrome?

PMID 16470747 2006 Angelman syndrome 2005: updated consensus for diagnostic criteria.

PMID 17940072 2008 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

rs1555391286 in UBE3A;SNHG14 gene and Movement Disorders PMID 25884337 2015 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

PMID 22670133 2012 Molecular and Clinical Aspects of Angelman Syndrome.

PMID 2309781 1990 Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

PMID 24876791 2014 Angelman syndrome: review of clinical and molecular aspects.

PMID 25212744 2014 Mutation Update for UBE3A variants in Angelman syndrome.

PMID 8988171 1997 UBE3A/E6-AP mutations cause Angelman syndrome.

PMID 26219744 2015 The neurobehavioral and molecular phenotype of Angelman Syndrome.

PMID 17940072 2008 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

PMID 19213023 2009 Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.

PMID 17765640 2008 Are there distinctive sleep problems in Angelman syndrome?

PMID 15263005 2004 Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.

PMID 16470747 2006 Angelman syndrome 2005: updated consensus for diagnostic criteria.