UBE3A (Gene)

Organism:

Homo sapiens

Synonyms:ANCR, AS, E6-AP, ENTREZ:7337, EPVE6AP, HGNC:12496, HPVE6A, MIM:601623, NM_000462, NM_001354505, NM_001354506, NM_001354507, NM_001354508, NM_001354509, NM_001354511, NM_001354512, NM_001354513, NM_001354523, NM_001354526, NM_001354538, NM_001354539, NM_001354540, NM_001354541, NM_001354542, NM_001354543, NM_001354544, NM_001354545, NM_001354546, NM_001354547, NM_001354548, NM_001354549, NM_001354550, NM_001354551, NM_001374461, NM_130838, NM_130839, NP_000453, NP_001341434, NP_001341435, NP_001341436, NP_001341437, NP_001341438, NP_001341440, NP_001341441, NP_001341442, NP_001341452, NP_001341455, NP_001341467, NP_001341468, NP_001341469, NP_001341470, NP_001341471, NP_001341472, NP_001341473, NP_001341474, NP_001341475, NP_001341476, NP_001341477, NP_001341478, NP_001341479, NP_001341480, NP_001361390, NP_570853, NP_570854, NR_148916, UBE3A, XM_011521995, XM_017022547, XM_017022548, XM_017022550, XM_017022556, XM_024450043, XP_011520297, XP_016878036, XP_016878037, XP_016878039, XP_016878045, XP_024305811, ubiquitin protein ligase E3A

Omim:OMIM:601623

Id:ENSG00000114062

Hgnc:HGNC:12496

Entrez:7337

Ensembl:ENSG00000114062

Description:ubiquitin protein ligase E3A

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. [provided by RefSeq, Jul 2008]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View UBE3A's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with UBE3A.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using UBE3A.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for UBE3A.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with UBE3A.

Results found

Linked to

	Label	Description
	GSE102505 5 V 0 TUNICAMYCIN HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE218773 ABL2 knockdown Hep-G2 2 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE203362 0 V 1 ENZALUTAMIDE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE207871 NPC knockdown S18 1 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE168401 2 V 0 HARMINE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE228430 FABP5 inhibition Huh-7 2 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE139987 1 V 2 ROSIGLITAZONE MOUSE DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE143782 calcitriol 7 v 11 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE234647 1 V 3 REGORAFENIB HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE178340 carfilzomib MM1.S 7 v 9 human dn Gene Set (Entity type)	A Gene Set from LINCS

GSE102505 5 V 0 TUNICAMYCIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE218773 ABL2 knockdown Hep-G2 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE203362 0 V 1 ENZALUTAMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE207871 NPC knockdown S18 1 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE168401 2 V 0 HARMINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE228430 FABP5 inhibition Huh-7 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE139987 1 V 2 ROSIGLITAZONE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE143782 calcitriol 7 v 11 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE234647 1 V 3 REGORAFENIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE178340 carfilzomib MM1.S 7 v 9 human dn

Gene Set (Entity type)

A Gene Set from LINCS

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The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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