GBA3

glucosylceramidase beta 3 (gene/pseudogene), the group of Glycoside hydrolase family 1|Glucosylceramidases

Basic information

Region (hg38): 4:22692914-22819575

Links

ENSG00000249948 ∙ NCBI:57733 ∙ OMIM:606619 ∙ HGNC:19069 ∙ Uniprot:Q9H227 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GBA3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GBA3 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			35	1		36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	1	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid glycosides. Able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens. Possesses beta- glycosylceramidase activity and may be involved in a nonlysosomal catabolic pathway of glycosylceramide. {ECO:0000269|PubMed:11784319, ECO:0000269|PubMed:12594539, ECO:0000269|PubMed:17595169}.
• Pathway: Starch and sucrose metabolism - Homo sapiens (human);Metabolism of lipids;Metabolism;Glycosphingolipid metabolism;Sphingolipid metabolism (Consensus)

Recessive Scores

• pRec: 0.478

Intolerance Scores

• rvis_EVS: 0.78
• rvis_percentile_EVS: 87.14

Haploinsufficiency Scores

• pHI: 0.0915

Essentials

• essential_gene_CRISPR2: N

Gene ontology

• Biological process: glycosphingolipid metabolic process;glycoside catabolic process;glycosylceramide catabolic process;protein stabilization;cellular oligosaccharide catabolic process;positive regulation of exo-alpha-sialidase activity
• Cellular component: cytosol;catalytic complex
• Molecular function: glucosylceramidase activity;beta-galactosidase activity;protein binding;beta-glucosidase activity;glycosylceramidase activity;scopolin beta-glucosidase activity