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Aliases for GBA2 Gene

Aliases for GBA2 Gene

  • Glucosylceramidase Beta 2 2 3 5
  • Non-Lysosomal Glucosylceramidase 2 3
  • Glucosidase, Beta (Bile Acid) 2 2 3
  • Beta-Glucocerebrosidase 2 3 4
  • Glucosylceramidase 2 3 4
  • EC 3.2.1.45 4 58
  • NLGase 3 4
  • Spastic Paraplegia 46 (Autosomal Recessive) 2
  • Bile Acid Beta-Glucosidase 2
  • Beta-Glucosidase 2 4
  • KIAA1605 4
  • AD035 3
  • SPG46 3

External Ids for GBA2 Gene

Previous HGNC Symbols for GBA2 Gene

  • SPG46

Previous GeneCards Identifiers for GBA2 Gene

  • GC09M036049
  • GC09M035906

Summaries for GBA2 Gene

Entrez Gene Summary for GBA2 Gene

  • This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]

GeneCards Summary for GBA2 Gene

GBA2 (Glucosylceramidase Beta 2) is a Protein Coding gene. Diseases associated with GBA2 include Spastic Paraplegia 46, Autosomal Recessive and Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity. Among its related pathways are Metabolism and Sphingolipid metabolism. GO annotations related to this gene include beta-glucosidase activity and glucosylceramidase activity.

UniProtKB/Swiss-Prot for GBA2 Gene

  • Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons.

Tocris Summary for GBA2 Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for GBA2 Gene

Additional gene information for GBA2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBA2 Gene

Genomics for GBA2 Gene

Regulatory Elements for GBA2 Gene

Enhancers for GBA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H035726 1.7 FANTOM5 ENCODE dbSUPER 26.7 +18.8 18814 8 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YBX1 DMAP1 ZBTB7B YY1 TPM2 TMEM8B ARHGEF39 GBA2 CCDC107 TLN1 HMGB3P24 PIGO RN7SL22P MSMP
GH09H035679 1.4 Ensembl ENCODE dbSUPER 25.5 +63.1 63111 12 TBP PKNOX1 ZSCAN4 INSM2 ARID4B SIN3A GLIS2 ELK1 EGR1 ZNF366 TPM2 GBA2 TMEM8B TLN1 NPR2 CCDC107 SIT1 CREB3 RGP1 ENSG00000228843
GH09H035745 1 ENCODE 27.4 +0.9 946 5 ATF1 ARNT ARID4B SIN3A DMAP1 YY1 ETS1 GLIS2 ELK1 ZNF143 GBA2 ENSG00000227388 SPAG8 TMEM8B HINT2 TPM2 MIR6853
GH09H035913 1.5 Ensembl ENCODE dbSUPER 16.5 -168.0 -168014 7 HDGF ATF1 ARNT ARID4B YBX1 ZBTB7B YY1 TCF12 ZNF766 ELK1 PIGO ARHGEF39 RGP1 TLN1 GBA2 SPAAR CLTA RECK NDUFA5P4 OR13J1
GH09H035904 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -158.9 -158940 7 FOXA2 YY1 ZNF121 ZNF143 FOS DEK SP3 REST PPARG ZNF518A HRCT1 SPAAR TMEM8B PIGO OR13J1 FAM221B NDUFA5P4 ENSG00000227388 NPR2 FANCG
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GBA2 on UCSC Golden Path with GeneCards custom track

Promoters for GBA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234679 428 2401 ATF1 ARNT ARID4B SIN3A DMAP1 ETS1 GLIS2 ELK1 ZNF143 ATF7

Genomic Location for GBA2 Gene

Chromosome:
9
Start:
35,736,866 bp from pter
End:
35,749,228 bp from pter
Size:
12,363 bases
Orientation:
Minus strand

Genomic View for GBA2 Gene

Genes around GBA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBA2 Gene

Proteins for GBA2 Gene

  • Protein details for GBA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCG7-GBA2_HUMAN
    Recommended name:
    Non-lysosomal glucosylceramidase
    Protein Accession:
    Q9HCG7
    Secondary Accessions:
    • D3DRP2
    • Q5TCV6
    • Q96A51
    • Q96LY1
    • Q96SJ2
    • Q9H2L8

    Protein attributes for GBA2 Gene

    Size:
    927 amino acids
    Molecular mass:
    104649 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG44660.1; Type=Frameshift; Positions=649, 691; Evidence={ECO:0000305}; Sequence=BAB13431.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GBA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBA2 Gene

Selected DME Specific Peptides for GBA2 Gene

Q9HCG7:
  • LAATMIQEG
  • GGIGGGTI
  • YMRPLSIW
  • EYRMYNTYDVHFYAS
  • YGRFGYLEG

Post-translational modifications for GBA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GBA2 Gene

Gene Families for GBA2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GBA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HCG7

UniProtKB/Swiss-Prot:

GBA2_HUMAN :
  • Belongs to the non-lysosomal glucosylceramidase family.
Family:
  • Belongs to the non-lysosomal glucosylceramidase family.
genes like me logo Genes that share domains with GBA2: view

Function for GBA2 Gene

Molecular function for GBA2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.7 uM for 3-beta-D-glucosido-lithocholic {ECO:0000269 PubMed:9111029}; KM=6.2 uM for 3-beta-D-glucosido-chenodeoxycholic {ECO:0000269 PubMed:9111029}; KM=210 uM for beta-D-glucoside {ECO:0000269 PubMed:9111029};
UniProtKB/Swiss-Prot CatalyticActivity:
D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzymatic activity is dependent on membrane association and requires the presence of lipids.
UniProtKB/Swiss-Prot Function:
Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons.

Enzyme Numbers (IUBMB) for GBA2 Gene

Phenotypes From GWAS Catalog for GBA2 Gene

Gene Ontology (GO) - Molecular Function for GBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004348 glucosylceramidase activity TAS --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0008422 beta-glucosidase activity IDA 11489889
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GBA2: view
genes like me logo Genes that share phenotypes with GBA2: view

Human Phenotype Ontology for GBA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GBA2 Gene

MGI Knock Outs for GBA2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GBA2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for GBA2 Gene

Localization for GBA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBA2 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Note=Not localized to lipid rafts. {ECO:0000269 PubMed:17105727}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GBA2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 4
cytosol 3
nucleus 2
lysosome 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005790 smooth endoplasmic reticulum TAS 11489889
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with GBA2: view

Pathways & Interactions for GBA2 Gene

genes like me logo Genes that share pathways with GBA2: view

Gene Ontology (GO) - Biological Process for GBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006680 glucosylceramide catabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with GBA2: view

No data available for SIGNOR curated interactions for GBA2 Gene

Drugs & Compounds for GBA2 Gene

(9) Drugs for GBA2 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved Pharma 0
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 86
Sphingosine Experimental Pharma 0
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 26

(465) Additional Compounds for GBA2 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4

(5) Tocris Compounds for GBA2 Gene

Compound Action Cas Number
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Kifunensine Inhibitor of class I alpha-mannosidases 109944-15-2
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
Swainsonine Inhibitor of alpha-mannosidase II 72741-87-8
genes like me logo Genes that share compounds with GBA2: view

Transcripts for GBA2 Gene

Unigene Clusters for GBA2 Gene

Glucosidase, beta (bile acid) 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GBA2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GBA2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b · 12c · 12d · 12e ·
SP1: -
SP2: - -
SP3: - -
SP4:
SP5:
SP6: -
SP7: - - - - - - - - - - - - - - - - - - - -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 12f ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b · 16c ^ 17
SP1: -
SP2: - -
SP3:
SP4:
SP5: - -
SP6: - - -
SP7: - - - -
SP8: - - -
SP9: -
SP10:
SP11:
SP12: - - - - - - - - - - -

Relevant External Links for GBA2 Gene

GeneLoc Exon Structure for
GBA2
ECgene alternative splicing isoforms for
GBA2

Expression for GBA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GBA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GBA2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.4), Retina (15.8), and Frontal cortex (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GBA2 Gene



Protein tissue co-expression partners for GBA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GBA2 Gene:

GBA2

SOURCE GeneReport for Unigene cluster for GBA2 Gene:

Hs.443134

mRNA Expression by UniProt/SwissProt for GBA2 Gene:

Q9HCG7-GBA2_HUMAN
Tissue specificity: Widely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower level in liver.

Evidence on tissue expression from TISSUES for GBA2 Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Adrenal gland(4.3)
  • Liver(4.3)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GBA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Pelvis:
  • prostate
  • urinary bladder
Limb:
  • ankle
  • foot
  • knee
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with GBA2: view

Primer Products

No data available for mRNA differential expression in normal tissues for GBA2 Gene

Orthologs for GBA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GBA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GBA2 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia GBA2 33 34
  • 89.91 (n)
cow
(Bos Taurus)
Mammalia GBA2 33 34
  • 88.15 (n)
rat
(Rattus norvegicus)
Mammalia Gba2 33
  • 87.23 (n)
mouse
(Mus musculus)
Mammalia Gba2 33 16 34
  • 87.07 (n)
oppossum
(Monodelphis domestica)
Mammalia GBA2 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GBA2 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves GBA2 33 34
  • 69.71 (n)
lizard
(Anolis carolinensis)
Reptilia GBA2 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gba2 33
  • 70.04 (n)
zebrafish
(Danio rerio)
Actinopterygii gba2 33 34
  • 64.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG33090 34 33
  • 52.59 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008830 33
  • 52.53 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-13 33 34
  • 48.59 (n)
R08F11.1 34
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G24180 33
  • 51.11 (n)
rice
(Oryza sativa)
Liliopsida Os10g0473400 33
  • 50.8 (n)
Os.27796 33
barley
(Hordeum vulgare)
Liliopsida Hv.5310 33
wheat
(Triticum aestivum)
Liliopsida Ta.20469 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8379 34
  • 43 (a)
OneToOne
Species where no ortholog for GBA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GBA2 Gene

ENSEMBL:
Gene Tree for GBA2 (if available)
TreeFam:
Gene Tree for GBA2 (if available)

Paralogs for GBA2 Gene

Pseudogenes.org Pseudogenes for GBA2 Gene

genes like me logo Genes that share paralogs with GBA2: view

No data available for Paralogs for GBA2 Gene

Variants for GBA2 Gene

Sequence variations from dbSNP and Humsavar for GBA2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs398123012 Pathogenic, Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409] 35,738,811(-) TTTAT(C/T)GGGAC intron-variant, reference, missense
rs398123015 Pathogenic, Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409] 35,737,335(-) GTTCC(A/G)CTCAC downstream-variant-500B, reference, missense, utr-variant-3-prime
rs398123013 Pathogenic 35,741,758(-) ATCCC(C/T)GAGCC intron-variant, reference, synonymous-codon, stop-gained, utr-variant-5-prime
rs398123014 Pathogenic 35,740,833(-) CTGCA(C/G/T)GAGTC reference, missense, stop-gained
rs398123064 Pathogenic 35,739,017(-) CCCAT(C/G)ATATT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GBA2 Gene

Variant ID Type Subtype PubMed ID
nsv1125318 OTHER inversion 24896259

Variation tolerance for GBA2 Gene

Residual Variation Intolerance Score: 23.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.37; 70.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GBA2 Gene

Human Gene Mutation Database (HGMD)
GBA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBA2 Gene

Disorders for GBA2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GBA2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 46, autosomal recessive
  • hereditary spastic paraplegia 46
autosomal recessive cerebellar ataxia with late-onset spasticity
  • autosomal recessive cerebellar ataxia due to gba2 deficiency
spastic paraplegia 46
  • spastic paraplegia 46, autosomal recessive
spastic paraplegia 56, autosomal recessive
  • hereditary spastic paraplegia 56
splenic sequestration
- elite association - COSMIC cancer census association via MalaCards
Search GBA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GBA2_HUMAN
  • Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. {ECO:0000269 PubMed:23332916, ECO:0000269 PubMed:23332917}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GBA2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GBA2
genes like me logo Genes that share disorders with GBA2: view

No data available for Genatlas for GBA2 Gene

Publications for GBA2 Gene

  1. Molecular cloning and expression of human bile acid beta-glucosidase. (PMID: 11489889) Matern H … Matern S (The Journal of biological chemistry 2001) 2 3 4 22 60
  2. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. (PMID: 23332916) Martin E … Stevanin G (American journal of human genetics 2013) 2 3 4 60
  3. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. (PMID: 23332917) Hammer MB … Singleton AB (American journal of human genetics 2013) 2 3 4 60
  4. Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2. (PMID: 17105727) Boot RG … Aerts JM (The Journal of biological chemistry 2007) 3 4 22 60
  5. Purification and characterization of a microsomal bile acid beta-glucosidase from human liver. (PMID: 9111029) Matern H … Matern S (The Journal of biological chemistry 1997) 3 4 22 60

Products for GBA2 Gene

Sources for GBA2 Gene

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