Gba2 glucosylceramidase beta 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Gba2provided by RGD
Official Full Name: glucosylceramidase beta 2provided by RGD
Primary source: RGD:1305598
See related: EnsemblRapid:ENSRNOG00000016364 AllianceGenome:RGD:1305598
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable glucosylceramidase activity; glucosyltransferase activity; and steryl-beta-glucosidase activity. Predicted to be involved in several processes, including glucosylceramide catabolic process; lipid glycosylation; and regulation of protein polymerization. Predicted to be located in Golgi membrane; cytosol; and endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 46. Orthologous to human GBA2 (glucosylceramidase beta 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Thymus (RPKM 137.8), Brain (RPKM 134.2) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 5q22

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	5	NC_086023.1 (62618176..62630160, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	5	NC_051340.1 (57822389..57834522, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	5	NC_005104.4 (59068081..59079719, complement)

Chromosome 5 - NC_086023.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Markers

RH134106 (e-PCR)
- UniSTS:217388

RH141307 (e-PCR)
- UniSTS:223303

BF387095 (e-PCR)
- UniSTS:244181

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables beta-glucosidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables beta-glucosidase activity	ISO Inferred from Sequence Orthology more info
enables beta-glucosidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables galactosylceramidase activity	IEA Inferred from Electronic Annotation more info
enables glucosylceramidase activity	IEA Inferred from Electronic Annotation more info
enables glucosylceramidase activity	ISO Inferred from Sequence Orthology more info
enables glucosylceramidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables glucosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables glucosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables steryl-beta-glucosidase activity	IEA Inferred from Electronic Annotation more info
enables steryl-beta-glucosidase activity	ISO Inferred from Sequence Orthology more info
enables steryl-beta-glucosidase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in bile acid metabolic process	IEA Inferred from Electronic Annotation more info
NOT involved_in bile acid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in bile acid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in bile acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system neuron development	IEA Inferred from Electronic Annotation more info
involved_in central nervous system neuron development	ISO Inferred from Sequence Orthology more info
involved_in central nervous system neuron development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
involved_in cholesterol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glucosylceramide catabolic process	IEA Inferred from Electronic Annotation more info
involved_in glucosylceramide catabolic process	ISO Inferred from Sequence Orthology more info
involved_in glucosylceramide catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycoside catabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycoside catabolic process	ISO Inferred from Sequence Orthology more info
involved_in glycoside catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid glycosylation	IEA Inferred from Electronic Annotation more info
involved_in lipid glycosylation	ISO Inferred from Sequence Orthology more info
involved_in lipid glycosylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of actin filament polymerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of membrane lipid distribution	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane lipid distribution	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane lipid distribution	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of microtubule polymerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of microtubule polymerization	ISO Inferred from Sequence Orthology more info
involved_in regulation of microtubule polymerization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: non-lysosomal glucosylceramidase

Names: NLGase; beta-glucocerebrosidase 2; beta-glucosidase 2; bile acid beta-glucosidase GBA2; bile acid glucosyl transferase GBA2; cholesterol glucosyltransferase GBA2; cholesteryl-beta-glucosidase GBA2; glucosidase beta 2; glucosylceramidase 2; non-lysosomal cholesterol glycosyltransferase; non-lysosomal galactosylceramidase; non-lysosomal glycosylceramidase

NP_001013109.2

EC 3.2.1.45

EC 3.2.1.46

XP_038965511.1

EC 3.2.1.45

EC 3.2.1.46

XP_038965512.1

EC 3.2.1.45

EC 3.2.1.46

XP_038965513.1

EC 3.2.1.45

EC 3.2.1.46

XP_063143468.1

EC 3.2.1.45

EC 3.2.1.46

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001013091.2 → NP_001013109.2 non-lysosomal glucosylceramidase

See identical proteins and their annotated locations for NP_001013109.2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000005

UniProtKB/Swiss-Prot

Q5M868

UniProtKB/TrEMBL

A6IJ37, D4A6U0

Related

ENSRNOP00000059311.1, ENSRNOT00000066708.6

Conserved Domains (3) summary

pfam04685
Location:512 → 875

DUF608; Protein of unknown function, DUF608

pfam06202
Location:610 → 738

GDE_C; Amylo-alpha-1,6-glucosidase

pfam12215
Location:157 → 446

GBA2_N; beta-Glucocerebrosidase 2 N terminal

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086023.1 Reference GRCr8

Range

62618176..62630160 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039109583.2 → XP_038965511.1 non-lysosomal glucosylceramidase isoform X1

Conserved Domains (2) summary

pfam04685
Location:323 → 686

DUF608; Glycosyl-hydrolase family 116, catalytic region

pfam12215
Location:66 → 257

Glyco_hydr_116N; beta-glucosidase 2, glycosyl-hydrolase family 116 N-term
XM_039109584.1 → XP_038965512.1 non-lysosomal glucosylceramidase isoform X1

Conserved Domains (2) summary

pfam04685
Location:323 → 686

DUF608; Glycosyl-hydrolase family 116, catalytic region

pfam12215
Location:66 → 257

Glyco_hydr_116N; beta-glucosidase 2, glycosyl-hydrolase family 116 N-term
XM_063287398.1 → XP_063143468.1 non-lysosomal glucosylceramidase isoform X2
XM_039109585.2 → XP_038965513.1 non-lysosomal glucosylceramidase isoform X3

Conserved Domains (2) summary

pfam04685
Location:512 → 589

DUF608; Glycosyl-hydrolase family 116, catalytic region

pfam12215
Location:157 → 446

Glyco_hydr_116N; beta-glucosidase 2, glycosyl-hydrolase family 116 N-term