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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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UBE3A
ubiquitin protein ligase E3A
Chromosome 15 Β· 15q11.2
NCBI Gene: 7337Ensembl: ENSG00000114062.22HGNC: HGNC:12496UniProt: A0A6Q8PHE5
421PubMed Papers
21Diseases
0Drugs
277Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of protein ubiquitinationresponse to progesteroneregulation of circadian rhythmprotein K48-linked ubiquitinationAngelman syndromegenetic disorderIntellectual disabilityNeurodevelopmental disorder
✦AI Summary

UBE3A (ubiquitin protein ligase E3A) is an E3 ubiquitin ligase that plays crucial roles in protein degradation and neurodevelopment 1. The gene is subject to genomic imprinting, with maternal-specific expression in neurons due to paternal silencing by antisense transcription 1. UBE3A functions in multiple cellular compartments including the proteasome, synapse, and nucleus, regulating protein stability and transcription 1. Loss of function of the maternally inherited UBE3A gene causes Angelman syndrome (AS), a severe neurodevelopmental disorder characterized by intellectual disability, speech impairment, ataxia, epilepsy, and distinctive behavioral features including frequent laughter 234. The syndrome results from four different molecular mechanisms: maternal deletion of chromosome 15-13, paternal uniparental disomy, imprinting defects, or maternally inherited UBE3A mutations 35. UBE3A disruption appears to inhibit synapse formation and experience-dependent synaptic remodeling, leading to functional defects in context-dependent learning and impaired maturation of hippocampal and neocortical circuits 4. Epilepsy occurs in 80-90% of AS patients, often presenting as pharmacoresistant seizures with underlying pathophysiology involving GABAergic dysfunction and thalamocortical hyperexcitability 6.

Sources cited
1
UBE3A is an E3 ubiquitin ligase with genomic imprinting and functions in proteasome, synapse, and nucleus
PMID: 26585570
2
Angelman syndrome is caused by loss of function of maternally inherited UBE3A and characterized by developmental delay, speech impairment, laughter, and ataxia
PMID: 32087041
3
Angelman syndrome has four molecular mechanisms and is characterized by global developmental delay, intellectual disability, epilepsy
PMID: 34203304
4
UBE3A disruption inhibits synapse formation and leads to learning defects and impaired circuit maturation
PMID: 26040994
5
Four molecular mechanisms cause Angelman syndrome including maternal deletion, uniparental disomy, imprinting defects, and mutations
PMID: 27615419
6
Epilepsy occurs in 80-90% of AS patients with GABAergic dysfunction and thalamocortical hyperexcitability
PMID: 32893075
Disease Associationsβ“˜21
Angelman syndromeOpen Targets
0.84Strong
genetic disorderOpen Targets
0.54Moderate
Intellectual disabilityOpen Targets
0.51Moderate
Neurodevelopmental disorderOpen Targets
0.34Weak
Epileptic encephalopathyOpen Targets
0.34Weak
Global developmental delayOpen Targets
0.34Weak
SeizureOpen Targets
0.33Weak
Abnormal corpus callosum morphologyOpen Targets
0.33Weak
EEG abnormalityOpen Targets
0.33Weak
Expressive language delayOpen Targets
0.33Weak
Poor speechOpen Targets
0.33Weak
developmental disabilityOpen Targets
0.26Weak
response to vaccineOpen Targets
0.22Weak
Abnormality of the integumentOpen Targets
0.22Weak
KeloidOpen Targets
0.21Weak
device complicationOpen Targets
0.20Weak
prostate carcinomaOpen Targets
0.20Weak
PruritusOpen Targets
0.20Weak
memory impairmentOpen Targets
0.19Weak
cervical carcinomaOpen Targets
0.18Weak
Angelman syndromeUniProt
Pathogenic Variants277
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser)Likely pathogenic
Angelman syndrome|Inborn genetic diseases
β˜…β˜…β˜…β˜†2025β†’ Residue 622
NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu)Likely pathogenic
Angelman syndrome|not provided
β˜…β˜…β˜…β˜†2025β†’ Residue 815
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys)Pathogenic
not provided|Angelman syndrome|UBE3A-related disorder
β˜…β˜…β˜…β˜†2025β†’ Residue 526
NM_130839.5(UBE3A):c.1421_1422del (p.Phe474fs)Pathogenic
Angelman syndrome|UBE3A-related disorder
β˜…β˜…β˜…β˜†2023β†’ Residue 474
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)Pathogenic
not provided|Angelman syndrome
β˜…β˜…β˜…β˜†2022β†’ Residue 855
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)Likely pathogenic
Angelman syndrome|not provided
β˜…β˜…β˜…β˜†2021β†’ Residue 602
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe)Likely pathogenic
not provided|Angelman syndrome|See cases
β˜…β˜…β˜…β˜†2021β†’ Residue 855
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys)Pathogenic
Angelman syndrome
β˜…β˜…β˜…β˜†2021β†’ Residue 126
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr)Pathogenic
Angelman syndrome|not provided
β˜…β˜…β˜…β˜†2021β†’ Residue 21
NM_130839.5(UBE3A):c.2125-1G>ALikely pathogenic
not provided|Angelman syndrome
β˜…β˜…β˜…β˜†2021
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)Pathogenic
Angelman syndrome|not provided|Inborn genetic diseases|Intellectual disability
β˜…β˜…β˜…β˜†2021β†’ Residue 856
NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter)Pathogenic
not provided|Angelman syndrome
β˜…β˜…β˜…β˜†2021β†’ Residue 209
NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter)Pathogenic
not provided|Angelman syndrome
β˜…β˜…β˜…β˜†2021β†’ Residue 403
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter)Pathogenic
Angelman syndrome
β˜…β˜…β˜…β˜†2021β†’ Residue 788
NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs)Pathogenic
Angelman syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 345
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs)Pathogenic
Angelman syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 612
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter)Pathogenic
Angelman syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 356
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His)Likely pathogenic
not provided|Angelman syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 526
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer)Pathogenic
not provided|Angelman syndrome|Epileptic encephalopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 490
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter)Pathogenic
not provided|Angelman syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 502
View on ClinVar β†—
Related Genes
ESR2Protein interaction100%NDNProtein interaction100%PTENProtein interaction100%UBE2AProtein interaction100%PSMD14Protein interaction100%PSMC1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
93%
Ovary
44%
Bone Marrow
41%
Liver
40%
Lung
33%
Gene Interaction Network
Click a node to explore
UBE3AESR2NDNPTENUBE2APSMD14PSMC1
PROTEIN STRUCTURE
Preparing viewer…
PDB6TGK Β· 1.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.14Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.07 [0.04–0.14]
RankingsWhere UBE3A stands among ~20K protein-coding genes
  • #676of 20,598
    Most Researched421 Β· top 5%
  • #225of 5,498
    Most Pathogenic Variants277 Β· top 5%
  • #165of 17,882
    Most Constrained (LOEUF)0.14 Β· top 1%
Genes detectedUBE3A
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Angelman syndrome: a journey through the brain.
PMID: 32087041
FEBS J Β· 2020
1.00
2
Genotype-Phenotype Correlations in Angelman Syndrome.
PMID: 34203304
Genes (Basel) Β· 2021
0.90
3
Angelman Syndrome.
PMID: 26040994
Neurotherapeutics Β· 2015
0.80
4
Epilepsy in Angelman syndrome: A scoping review.
PMID: 32893075
Brain Dev Β· 2021
0.70
5
Sex-biasing influence of autism-associated
PMID: 38996019
Sci Adv Β· 2024
0.68