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Gba Gene Detail
Summary
  • Symbol
    Gba
  • Name
    glucosidase, beta, acid
  • Synonyms
    betaGC, GBA1, GC, GCase, glucocerebrosidase
  • Feature Type
    protein coding gene
  • IDs
    MGI:95665
    NCBI Gene: 14466
  • Gene Overview
    MyGene.info: GBA
Location & Maps
more
  • Sequence Map
    Chr3:89202928-89208966 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6039 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    GBA, glucosylceramidase beta
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GBA, glucosylceramidase beta
    Orthology source: HGNC, HomoloGene
  • Synonyms
    GBA1, GCB, GLUC
  • Links
    NCBI Gene ID: 2629
    neXtProt AC: NX_P04062

  • Chr Location
    1q21; chr1:155234448-155244862 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Gba mouse models; 7 with human GBA associations

Human Disease Mouse Models
       Gaucher Disease, Type I   OMIM: 230800 View 13 models
Gaucher Disease, Type II   OMIM: 230900 View 3 models
Gaucher Disease, Type III   OMIM: 231000 View 8 models
       Dementia, Lewy Body; DLB   OMIM: 127750
Gaucher Disease, Perinatal Lethal   OMIM: 608013
Gaucher Disease, Type IIIC   OMIM: 231005
Parkinson Disease, Late-Onset; PD   OMIM: 168600
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    12 with disease annotations
  • References
    13 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    83 phenotypes from 17 alleles in 17 genetic backgrounds
    4 phenotypes from multigenic genotypes
    11 images
    54 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    25
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    22
  • Genomic Mutations
    2 involving Gba
  • Incidental Mutations
Mutations in this locus variably lower enzyme activity and result in accumulated glucocerebroside in reticuloendotehelial cell lysosomes and glucosylceramide in brain, liver and skin. Severe mutants die perinatally with compromised epidermal permeability.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000052631 VEGA Gene Model | MGI Sequence Detail 6039 C57BL/6J ±  kb
transcript OTTMUST00000131867 VEGA | MGI Sequence Detail 1779 Not Applicable  
polypeptide OTTMUSP00000070424 VEGA | MGI Sequence Detail 515 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    66 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 90
    Genomic 8
    cDNA 79
    Primer pair 3

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-10007
References
more
  • Summaries
    All 115
    Developmental Gene Expression 5
    Diseases 13
    Gene Ontology 8
    Phenotypes 54
  • Earliest
    J:18511 Pentchev PG, et al., A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta. 1980 Sep 8;619(3):669-79
  • Latest
    J:226843 Dasgupta N, et al., Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model. Hum Mol Genet. 2015 Dec 15;24(24):7031-48

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory