The UBE3B gene homepage

General information
Gene symbol	UBE3B
Gene name	ubiquitin protein ligase E3B
Chromosome	12
Chromosomal band	q24.12
Imprinted	Unknown
Genomic reference	NC_000012.11
Transcript reference	NM_001270449.1, NM_001270450.1, NM_001270451.1, NM_130466.3, NM_183415.2, XM_005253987.1, XM_005253988.1, XM_005253989.1, XM_005253990.1
Associated with diseases	ID, KOS, Blepharophimosis-ptosis-intellectual disability syndrome
Citation reference(s)	-
Curators (1)	Johan T. den Dunnen
Total number of public variants reported	90
Unique public DNA variants reported	16
Individuals with public variants	35
Hidden variants	53
Date created	December 10, 2013
Date last updated	September 28, 2016
Version	UBE3B:160928

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL	List of LSDBs for this gene The reference LOVD for this gene, if available
HGNC	HGNC:13478
Entrez Gene	89910
PubMed articles	UBE3B
OMIM - Gene	608047
OMIM - Diseases	KOS (Kaufman oculocerebrofacial syndrome (KOS)) Blepharophimosis-ptosis-intellectual disability syndrome
HGMD	UBE3B
GeneCards	UBE3B
GeneTests	UBE3B

Active transcripts

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Operator	Column type	Example	Matches
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
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Example	Matches
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00020319	12	Manually created transcript. (removed from reference sequence)	NM_130466.3	-	90
00020320	12	Manually created transcript. (removed from reference sequence)	NM_183415.2	-	90
00027844	12	Manually created transcript	NM_001270449.1	-	13
00027845	12	Manually created transcript	NM_001270450.1	-	13
00027846	12	Manually created transcript	NM_001270451.1	-	13
00035585	12	transcript variant X2	XM_005253988.1	XP_005254045.1	-
00035586	12	transcript variant X4	XM_005253990.1	XP_005254047.1	-
00035587	12	transcript variant X1	XM_005253987.1	XP_005254044.1	-
00035588	12	transcript variant X3	XM_005253989.1	XP_005254046.1	-

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2025. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases. We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.

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UBE3B (ubiquitin protein ligase E3B)