ENSMUSG00000028467


Mus musculus

Features
Gene ID: ENSMUSG00000028467
  
Biological name :Gba2
  
Synonyms : Gba2 / Non-lysosomal glucosylceramidase / Q69ZF3
  
Possible biological names infered from orthology : glucosylceramidase beta 2 / Q9HCG7
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: A5
Gene start: 43566928
Gene end: 43578873
  
Corresponding Affymetrix probe sets: 10512574 (MoGene1.0st)   1419980_at (Mouse Genome 430 2.0 Array)   1434271_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000119589
Ensembl peptide - ENSMUSP00000030189
NCBI entrez gene - 230101     See in Manteia.
MGI - MGI:2654325
RefSeq - NM_172692
RefSeq - XM_006537832
RefSeq Peptide - NP_766280
swissprot - B1AWI3
swissprot - Q69ZF3
Ensembl - ENSMUSG00000028467
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gba2ENSDARG00000061472Danio rerio
 GBA2ENSGALG00000002412Gallus gallus
 GBA2ENSG00000070610Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR006775  Glycosyl-hydrolase family 116, catalytic region
 IPR008928  Six-hairpin glycosidase superfamily
 IPR014551  Beta-glucosidase GBA2-type
 IPR024462  Glycosyl-hydrolase family 116, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006665 sphingolipid metabolic process IEA
 biological_processGO:0006680 glucosylceramide catabolic process IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008206 bile acid metabolic process IEA
 biological_processGO:0016139 glycoside catabolic process IEA
 biological_processGO:0021954 central nervous system neuron development IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004348 glucosylceramidase activity IEA
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0008422 beta-glucosidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA


Pathways (from Reactome)
Pathway description
Glycosphingolipid metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
Show

Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0001547 abnormal lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
Show

Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0002686 globozoospermia "malformation of the acrosome resulting in a round sperm head" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
Show

Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
Show

Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0002784 abnormal Sertoli cell morphology "malformation of the cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [J:65900, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0005410 abnormal fertilization "anomaly in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronucei" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0005554 decreased circulating creatinine level "less than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
Show

Allelic Composition: Ftotm1a(EUCOMM)Wtsi/Ftotm1a(EUCOMM)Wtsi
Genetic Background: B6JTyr;B6N-Ftotm1a(EUCOMM)Wtsi/Wtsi

 MP:0005584 abnormal enzyme/coenzyme activity "altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Gba2tm1Rus/Gba2tm1Rus
Genetic Background: involves: 129S6/SvEv * C57BL/6J

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gba2tm1Rus/Gba2tm1Rus
Genetic Background: involves: 129S6/SvEv * C57BL/6J

 MP:0006362 abnormal male germ cell morphology "any structural anomaly of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gba2tm1Rus/Gba2tm1Rus
Genetic Background: involves: 129S6/SvEv * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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