Gene: SNHG14

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1064793307 in SNHG14;UBE3A gene and Angelman Syndrome PMID 26255772 2015 An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.

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

PMID 24796722 2015 Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations.

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

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 9887341 1999 The spectrum of mutations in UBE3A causing 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 25782669 2015 Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

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

PMID 29188609 2017 [Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations].

rs587781196 in SNHG14;UBE3A gene and Movement Disorders PMID 15263005 2004 Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.

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

PMID 17765640 2008 Are there distinctive sleep problems in 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 26219744 2015 The neurobehavioral and molecular phenotype of Angelman Syndrome.

PMID 22670133 2012 Molecular and Clinical Aspects of Angelman Syndrome.

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

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

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

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