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FLASH GENE

Symbol

GBA2

contributors: npt/shn - updated : 25-10-2017

HGNC name	glucosidase, beta (bile acid) 2
HGNC id	18986

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Homo sapiens Adult NM_020944   heart       lowly Mus musculus Adult NM_172692 Digestive intestine large intestine colon   lowly Homo sapiens Adult NM_020944   intestine small intestine     lowly Homo sapiens Adult NM_020944   liver       highly Mus musculus Adult NM_172692   liver       lowly Homo sapiens Adult NM_020944 Lymphoid/Immune spleen       lowly Homo sapiens Adult NM_020944   thymus       lowly Homo sapiens Adult NM_020944 Nervous brain midbrain       Homo sapiens   brain limbic system hippocampus     Homo sapiens   brain       highly Mus musculus Adult NM_172692   brain forebrain cerebral cortex     Homo sapiens   brain       highly Homo sapiens Adult NM_020944 Reproductive female system placenta     highly Homo sapiens Adult NM_020944   male system male genital tract epididymis   moderately Mus musculus Adult NM_172692   male system testis     highly Mus musculus Adult NM_172692 Respiratory lung       lowly Homo sapiens Adult NM_020944   lung       moderately Mus musculus Adult NM_172692 Urinary kidney       lowly Mus musculus Adult NM_172692   kidney       highly Homo sapiens Adult NM_020944

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens NM_020944

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Homo sapiens NM_020944 Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	liver, brain, placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N and C termini are directly accessible from the cytosol, ruling out any lumenal or extracellular localization
	a putative transmembrane domain
	six-hairpin-glucosidase-like domain

HOMOLOGY

interspecies	ortholog to Gba2, Rattus norvegicus
	ortholog to Gba2, Mus musculus
	ortholog to gba2, Danio rerio
	ortholog to GBA2, Pan troglodytes

Homologene

FAMILY

non-lysosomal glucosylceramidase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,microsome
text	is not an integral membrane protein but rather is membrane-associated at the ER and Golgi
	expressed in the cytosol, but its expression also spatially overlapped with calnexin, an ER marker; with GOLGA2, a marker for the cis-Golgi network; and with giantin, a marker for the Golgi cisternae

basic FUNCTION	GBA and GBA2 are not only glucosylceramide beta-glucosidases but both also bile acid beta-glucosidases
	role of in the central nervous system development
	GBA and GBA2 are both beta-glucosidases, which cleave glucosylceramide (GlcCer) to glucose and ceramide
	is not an integral membrane protein but rather is tightly associated with membranes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	bile acid beta-glucosidase activity

PATHWAY

metabolism

signaling

	sphingolipid metabolism
	catalyzes the conversion of glucosylceramide to free glucose and ceramide as well as the reverse reaction consisting in the transfer of glucose to different lipid substrates

a component

INTERACTION

DNA

RNA

small molecule

protein

GBA, GBA2, both have glucosylceramide as a main natural substrate

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG46 , MSS1L

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in spastic ataxia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	male mice Knockout for Gba2 exhibited impaired fertility which is due to globozoospermia, abnormal sperm acrosomes, and defective sperm mobility
	GBA2-targeted RNA interference reduces endogenous non-lysosomal glucosylceramidase activity in cells
	in mice pharmacological inhibition of GBA2 activity is associated with impaired spermatogenesis
	knock down of mouse Gba2 by antisense morpholino oligonucleotide induced a curly tail phenotype in 12.5% of morphants and a substantial proportion of morphants showed significant motility defects characterized by slower movements and shorter touch-induced escape distances
	in zebrafish model, human GBA2 mRNA can partially compensate for the loss of endogenous zebrafish mRNA which decreases motility defects