GBA2

Chr 9p13.3

glucosylceramidase beta 2

Aliases:: KIAA1605, AD035, DKFZp762K054
MANE:: ENST00000378103.7

OMIM: 609471 ↗NCBI: 57704 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GBA2 · Q9HCG7

v62025-08-01

Predicted Aligned Error matrix for GBA2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.3/ 100

Confident

927 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)6%
Low(50–70)1%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Autosomal recessive spastic paraplegia type 46
0.81
hereditary spastic paraplegia 46
0.75
Spastic paraplegia
0.55
hereditary spastic paraplegia
0.49
complex hereditary spastic paraplegia
0.37
autosomal recessive cerebellar ataxia with late-onset spasticity
0.37
neurodevelopmental disorder
0.33
type 2 diabetes mellitus
0.32
Parkinson disease
0.27
CEP290-related ciliopathy
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Non-lysosomal glucosylceramidase

Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) to free glucose and ceramides (such as N-acylsphing-4-enine) (PubMed:17105727, PubMed:30308956, PubMed:32144204). GlcCers are membrane glycosphingolipids that have a wide intracellular distribution (By similarity). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity). Involved in the transglucosylation of cholesterol, transfers glucose from GlcCer to cholesterol, thereby modifying its water solubility and biological properties (PubMed:32144204). Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-3-beta-D-glucoside to ceramide (such as N-acylsphing-4-enine) (Probable). May play a role in the metabolism of bile acids (PubMed:11489889, PubMed:17080196, PubMed:9111029). Able to hydrolyze bile acid 3-O-glucosides as well as to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:11489889, PubMed:17080196, PubMed:9111029). Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the galactosyl transfer between GalCers and cholesterol in vitro with lower activity compared with their activity against GlcCers (PubMed:32144204)