Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GBA2 (glucosylceramidase beta 2)

Identity

Alias_namesSPG46
spastic paraplegia 46 (autosomal recessive)
glucosidase, beta (bile acid) 2
Alias_symbol (synonym)KIAA1605
AD035
DKFZp762K054
Other aliasNLGase
HGNC (Hugo) GBA2
LocusID (NCBI) 57704
Atlas_Id 53238
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 35736863 and ends at 35749225 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EXOC7 (17q25.1) / GBA2 (9p13.3)GBA2 (9p13.3) / ATP6V1C1 (8q22.3)GBA2 9p13.3 / ATP6V1C1 8q22.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GBA2   18986
Cards
Entrez_Gene (NCBI)GBA2  57704  glucosylceramidase beta 2
AliasesAD035; NLGase; SPG46
GeneCards (Weizmann)GBA2
Ensembl hg19 (Hinxton)ENSG00000070610 [Gene_View]  chr9:35736863-35749225 [Contig_View]  GBA2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000070610 [Gene_View]  chr9:35736863-35749225 [Contig_View]  GBA2 [Vega]
ICGC DataPortalENSG00000070610
TCGA cBioPortalGBA2
AceView (NCBI)GBA2
Genatlas (Paris)GBA2
WikiGenes57704
SOURCE (Princeton)GBA2
Genetics Home Reference (NIH)GBA2
Genomic and cartography
GoldenPath hg19 (UCSC)GBA2  -     chr9:35736863-35749225 -  9p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GBA2  -     9p13.3   [Description]    (hg38-Dec_2013)
EnsemblGBA2 - 9p13.3 [CytoView hg19]  GBA2 - 9p13.3 [CytoView hg38]
Mapping of homologs : NCBIGBA2 [Mapview hg19]  GBA2 [Mapview hg38]
OMIM609471   614409   
Gene and transcription
Genbank (Entrez)AB046825 AF258662 AJ309567 AK027884 AK057610
RefSeq transcript (Entrez)NM_020944
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_033899 NT_008413 NW_004929342
Consensus coding sequences : CCDS (NCBI)GBA2
Cluster EST : UnigeneHs.443134 [ NCBI ]
CGAP (NCI)Hs.443134
Alternative Splicing GalleryENSG00000070610
Gene ExpressionGBA2 [ NCBI-GEO ]   GBA2 [ EBI - ARRAY_EXPRESS ]   GBA2 [ SEEK ]   GBA2 [ MEM ]
Gene Expression Viewer (FireBrowse)GBA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57704
GTEX Portal (Tissue expression)GBA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCG7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HCG7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCG7
Splice isoforms : SwissVarQ9HCG7
Catalytic activity : Enzyme3.2.1.45 [ Enzyme-Expasy ]   3.2.1.453.2.1.45 [ IntEnz-EBI ]   3.2.1.45 [ BRENDA ]   3.2.1.45 [ KEGG ]   
PhosPhoSitePlusQ9HCG7
Domains : Interpro (EBI)6-hairpin_glycosidase-like    B_Glucosidase_GBA2-typ    GBA2_N    Glucosylceramidase   
Domain families : Pfam (Sanger)DUF608 (PF04685)    GBA2_N (PF12215)   
Domain families : Pfam (NCBI)pfam04685    pfam12215   
Conserved Domain (NCBI)GBA2
DMDM Disease mutations57704
Blocks (Seattle)GBA2
SuperfamilyQ9HCG7
Human Protein AtlasENSG00000070610
Peptide AtlasQ9HCG7
HPRD13569
IPIIPI01010727   IPI00645032   IPI00844444   IPI00100668   IPI00387074   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCG7
IntAct (EBI)Q9HCG7
FunCoupENSG00000070610
BioGRIDGBA2
STRING (EMBL)GBA2
ZODIACGBA2
Ontologies - Pathways
QuickGOQ9HCG7
Ontology : AmiGOGolgi membrane  glucosylceramidase activity  endoplasmic reticulum membrane  smooth endoplasmic reticulum  plasma membrane  glucosylceramide catabolic process  glycosphingolipid metabolic process  bile acid metabolic process  bile acid metabolic process  beta-glucosidase activity  integral component of membrane  integral component of membrane  glycoside catabolic process  glycoside catabolic process  central nervous system neuron development  
Ontology : EGO-EBIGolgi membrane  glucosylceramidase activity  endoplasmic reticulum membrane  smooth endoplasmic reticulum  plasma membrane  glucosylceramide catabolic process  glycosphingolipid metabolic process  bile acid metabolic process  bile acid metabolic process  beta-glucosidase activity  integral component of membrane  integral component of membrane  glycoside catabolic process  glycoside catabolic process  central nervous system neuron development  
Pathways : KEGGOther glycan degradation    Sphingolipid metabolism   
NDEx NetworkGBA2
Atlas of Cancer Signalling NetworkGBA2
Wikipedia pathwaysGBA2
Orthology - Evolution
OrthoDB57704
GeneTree (enSembl)ENSG00000070610
Phylogenetic Trees/Animal Genes : TreeFamGBA2
HOVERGENQ9HCG7
HOGENOMQ9HCG7
Homologs : HomoloGeneGBA2
Homology/Alignments : Family Browser (UCSC)GBA2
Gene fusions - Rearrangements
Fusion : MitelmanGBA2/ATP6V1C1 [9p13.3/8q22.3]  
Fusion: TCGAGBA2 9p13.3 ATP6V1C1 8q22.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGBA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GBA2
dbVarGBA2
ClinVarGBA2
1000_GenomesGBA2 
Exome Variant ServerGBA2
ExAC (Exome Aggregation Consortium)GBA2 (select the gene name)
Genetic variants : HAPMAP57704
Genomic Variants (DGV)GBA2 [DGVbeta]
DECIPHER (Syndromes)9:35736863-35749225  ENSG00000070610
CONAN: Copy Number AnalysisGBA2 
Mutations
ICGC Data PortalGBA2 
TCGA Data PortalGBA2 
Broad Tumor PortalGBA2
OASIS PortalGBA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGBA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGBA2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GBA2
DgiDB (Drug Gene Interaction Database)GBA2
DoCM (Curated mutations)GBA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GBA2 (select a term)
intoGenGBA2
Cancer3DGBA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609471    614409   
Orphanet21719    22089   
MedgenGBA2
Genetic Testing Registry GBA2
NextProtQ9HCG7 [Medical]
TSGene57704
GENETestsGBA2
Huge Navigator GBA2 [HugePedia]
snp3D : Map Gene to Disease57704
BioCentury BCIQGBA2
ClinGenGBA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57704
Chemical/Pharm GKB GenePA38773
Clinical trialGBA2
Miscellaneous
canSAR (ICR)GBA2 (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGBA2
EVEXGBA2
GoPubMedGBA2
iHOPGBA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:07:08 CET 2017

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