The GBA2 gene homepage

General information
Gene symbol GBA2
Gene name glucosidase, beta (bile acid) 2
Chromosome 9
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_033899.1
Transcript reference NM_020944.2
Exon/intron information NM_020944.2 exon/intron table
Associated with diseases SPG46
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 41
Unique public DNA variants reported 37
Individuals with public variants 72
Hidden variants 6
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 April 16, 2023
Version GBA2:230416

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_020944.2.
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 https://www.LOVD.nl/GBA2
HGNC 18986
Entrez Gene 57704
PubMed articles GBA2
OMIM - Gene 609471
OMIM - Diseases SPG46 (paraplegia, spastic, type 46, autosomal recessive (SPG-46))
HGMD GBA2
GeneCards GBA2
GeneTests GBA2
Orphanet GBA2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008381 9 glucosidase, beta (bile acid) 2 NM_020944.2 NP_065995.1 41


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