UBE3A gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol UBE3A
Gene name ubiquitin protein ligase E3A
Chromosome 15
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NC_000015.9
Transcript reference NM_000462.3, NM_130838.1, NM_130839.2, XM_005268267.1, XM_005268268.1, XM_005268269.1, XM_005268270.1, XM_005268271.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013
Links to other resources
HGNC 12496
Entrez Gene 7337
PubMed articles UBE3A
OMIM - Gene 601623
HGMD UBE3A
GeneCards UBE3A
GeneTests UBE3A


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00001256 15 transcript variant X5 XM_005268271.1 XP_005268328.1 0
00001257 15 transcript variant X4 XM_005268270.1 XP_005268327.1 0
00001258 15 transcript variant X2 XM_005268268.1 XP_005268325.1 0
00001259 15 transcript variant X3 XM_005268269.1 XP_005268326.1 0
00001260 15 transcript variant X1 XM_005268267.1 XP_005268324.1 0
00001261 15 transcript variant 3 NM_130839.2 NP_570854.1 0
00001262 15 transcript variant 2 NM_000462.3 NP_000453.2 0
00001263 15 transcript variant 1 NM_130838.1 NP_570853.1 0


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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