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Protein-coding gene in the: species Homo sapiens
GBA2
Identifiers
AliasesGBA2, SPG46, "AD035," NLGase, glucosylceramidase beta 2
External IDsOMIM: 609471; MGI: 2654325; HomoloGene: 10859; GeneCards: GBA2; OMA:GBA2 - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)
Chromosome 9 (human)
Genomic location for GBA2
Genomic location for GBA2
Band9p13.3Start35,736,866 bp
End35,749,228 bp
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)
Chromosome 4 (mouse)
Genomic location for GBA2
Genomic location for GBA2
Band4|4 A5Start43,566,928 bp
End43,578,873 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right hemisphere of cerebellum

  • transverse colon

  • mucosa of transverse colon

  • muscle layer of sigmoid colon

  • right lobe of thyroid gland

  • rectum

  • apex of heart

  • left lobe of thyroid gland

  • anterior pituitary

  • body of stomach
Top expressed in
  • medial dorsal nucleus

  • medial geniculate nucleus

  • ascending aorta

  • superior frontal gyrus

  • granulocyte

  • dorsal tegmental nucleus

  • seminiferous tubule

  • nucleus accumbens

  • subiculum

  • lateral geniculate nucleus
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

57704

230101

Ensembl

ENSG00000070610

ENSMUSG00000028467

UniProt

Q9HCG7

Q69ZF3

RefSeq (mRNA)

NM_020944
NM_001330660

NM_172692

RefSeq (protein)

NP_001317589
NP_065995

NP_766280

Location (UCSC)Chr 9: 35.74 – 35.75 MbChr 4: 43.57 – 43.58 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

GBA2 is: the——gene that encodes the enzyme non-lysosomal glucosylceramidase in humans. It has glucosylceramidase (EC 3.2.1.45) activity.

Function※

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.

See also※

References※

  1. ^ GRCh38: Ensembl release 89: ENSG00000070610Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000028467Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Matern H, Boermans H, Lottspeich F, Matern S (Oct 2001). "Molecular cloning and expression of human bile acid beta-glucosidase". J Biol Chem. 276 (41): 37929–33. doi:10.1074/jbc.M104290200. PMID 11489889.
  6. ^ "Entrez Gene: GBA2 glucosidase, beta (bile acid) 2".

Further reading※


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