The UBA5 gene homepage

General information
Gene symbol UBA5
Gene name ubiquitin-like modifier activating enzyme 5
Chromosome 3
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_052968.1
Transcript reference NM_024818.3
Associated with diseases EIEE44, SCAR24
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 209
Unique public DNA variants reported 139
Individuals with public variants 29
Hidden variants 12
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated November 27, 2023
Version UBA5:231127

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
Homepage URL
HGNC 23230
Entrez Gene 79876
PubMed articles UBA5
OMIM - Gene 610552
OMIM - Diseases EIEE44 (encephalopathy, epileptic, early infantile, type 44 (EIEE44))
SCAR24 (ataxia, spinocerebellar, autosomal recessive, type 24 (SCAR24))
GeneCards UBA5
GeneTests UBA5
Orphanet UBA5

Active transcripts




NCBI ID     

NCBI Protein ID     

00022212 3 transcript variant 1 NM_024818.3 NP_079094.1 209

Copyright & disclaimer
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