Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57704
Gene name	Glucosylceramidase beta 2
Gene symbol	GBA2
Synonyms (NCBI Gene)	AD035NLGaseSPG46
Chromosome	9
Chromosome location	9p13.3
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs142607078	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123012	G>A	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs398123013	G>A,C	Pathogenic	Synonymous variant, 5 prime UTR variant, stop gained, missense variant, coding sequence variant, intron variant
rs398123014	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs398123064	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs754147042	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs756503362	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs774411642	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs780684206	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1011987148	G>A	Pathogenic	Stop gained, coding sequence variant
rs1448182827	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588010939	->GCCT	Pathogenic	Frameshift variant, coding sequence variant
rs1588013761	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1588022768	C>T	Pathogenic	Stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs1588023668	G>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant

408

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miRTarBase ID	miRNA	Experiments	Reference
MIRT037829	hsa-miR-455-3p	CLASH	23622248
MIRT476461	hsa-miR-24-3p	PAR-CLIP	23592263
MIRT476459	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT476458	hsa-miR-4753-5p	PAR-CLIP	23592263
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT476455	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	23592263
MIRT476453	hsa-miR-4257	PAR-CLIP	23592263
MIRT476452	hsa-miR-4459	PAR-CLIP	23592263
MIRT476451	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT476450	hsa-miR-1266-5p	PAR-CLIP	23592263
MIRT476449	hsa-miR-4518	PAR-CLIP	23592263
MIRT476448	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT476447	hsa-miR-1286	PAR-CLIP	23592263
MIRT476446	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT476445	hsa-miR-4755-3p	PAR-CLIP	23592263
MIRT476444	hsa-miR-3934-3p	PAR-CLIP	23592263
MIRT476443	hsa-miR-4533	PAR-CLIP	23592263
MIRT476442	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT476441	hsa-miR-4284	PAR-CLIP	23592263
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT476438	hsa-miR-4271	PAR-CLIP	23592263
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT476435	hsa-miR-6511b-5p	PAR-CLIP	23592263
MIRT476434	hsa-miR-6811-5p	PAR-CLIP	23592263
MIRT476433	hsa-miR-676-3p	PAR-CLIP	23592263
MIRT476432	hsa-miR-2355-3p	PAR-CLIP	23592263
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT476430	hsa-miR-5692a	PAR-CLIP	23592263
MIRT476429	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT476428	hsa-miR-6750-5p	PAR-CLIP	23592263
MIRT476427	hsa-miR-6822-5p	PAR-CLIP	23592263
MIRT476426	hsa-miR-8062	PAR-CLIP	23592263
MIRT476425	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT476424	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT476422	hsa-miR-4710	PAR-CLIP	23592263
MIRT476423	hsa-miR-3915	PAR-CLIP	23592263
MIRT476421	hsa-miR-576-5p	PAR-CLIP	23592263
MIRT476450	hsa-miR-1266-5p	PAR-CLIP	26701625
MIRT476450	hsa-miR-1266-5p	PAR-CLIP	26701625
MIRT476447	hsa-miR-1286	PAR-CLIP	26701625
MIRT476447	hsa-miR-1286	PAR-CLIP	26701625
MIRT476432	hsa-miR-2355-3p	PAR-CLIP	26701625
MIRT476432	hsa-miR-2355-3p	PAR-CLIP	26701625
MIRT476461	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT476461	hsa-miR-24-3p	PAR-CLIP	26701625
MIRT476455	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT476455	hsa-miR-296-3p	PAR-CLIP	26701625
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	26701625
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	26701625
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	26701625
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	26701625
MIRT476444	hsa-miR-3934-3p	PAR-CLIP	26701625
MIRT476444	hsa-miR-3934-3p	PAR-CLIP	26701625
MIRT476453	hsa-miR-4257	PAR-CLIP	26701625
MIRT476453	hsa-miR-4257	PAR-CLIP	26701625
MIRT476453	hsa-miR-4257	PAR-CLIP	26701625
MIRT476453	hsa-miR-4257	PAR-CLIP	26701625
MIRT476438	hsa-miR-4271	PAR-CLIP	26701625
MIRT476438	hsa-miR-4271	PAR-CLIP	26701625
MIRT476438	hsa-miR-4271	PAR-CLIP	26701625
MIRT476438	hsa-miR-4271	PAR-CLIP	26701625
MIRT476441	hsa-miR-4284	PAR-CLIP	26701625
MIRT476441	hsa-miR-4284	PAR-CLIP	26701625
MIRT476452	hsa-miR-4459	PAR-CLIP	26701625
MIRT476452	hsa-miR-4459	PAR-CLIP	26701625
MIRT476449	hsa-miR-4518	PAR-CLIP	26701625
MIRT476449	hsa-miR-4518	PAR-CLIP	26701625
MIRT476443	hsa-miR-4533	PAR-CLIP	26701625
MIRT476443	hsa-miR-4533	PAR-CLIP	26701625
MIRT476443	hsa-miR-4533	PAR-CLIP	26701625
MIRT476443	hsa-miR-4533	PAR-CLIP	26701625
MIRT476446	hsa-miR-4722-5p	PAR-CLIP	26701625
MIRT476446	hsa-miR-4722-5p	PAR-CLIP	26701625
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	26701625
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	26701625
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	26701625
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	26701625
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT476458	hsa-miR-4753-5p	PAR-CLIP	26701625
MIRT476458	hsa-miR-4753-5p	PAR-CLIP	26701625
MIRT476458	hsa-miR-4753-5p	PAR-CLIP	26701625
MIRT476445	hsa-miR-4755-3p	PAR-CLIP	26701625
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT476435	hsa-miR-6511b-5p	PAR-CLIP	26701625
MIRT476435	hsa-miR-6511b-5p	PAR-CLIP	26701625
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT476433	hsa-miR-676-3p	PAR-CLIP	26701625
MIRT476433	hsa-miR-676-3p	PAR-CLIP	26701625
MIRT476459	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT476459	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT476459	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	26701625
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	26701625
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	26701625
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	26701625
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	26701625
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	26701625
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	26701625
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	26701625
MIRT476434	hsa-miR-6811-5p	PAR-CLIP	26701625
MIRT476434	hsa-miR-6811-5p	PAR-CLIP	26701625
MIRT476451	hsa-miR-6823-5p	PAR-CLIP	26701625
MIRT476451	hsa-miR-6823-5p	PAR-CLIP	26701625
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	26701625
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	26701625
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	26701625
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	26701625
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	26701625
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	26701625
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	26701625
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	26701625
MIRT476442	hsa-miR-766-5p	PAR-CLIP	26701625
MIRT476442	hsa-miR-766-5p	PAR-CLIP	26701625
MIRT476442	hsa-miR-766-5p	PAR-CLIP	26701625
MIRT476442	hsa-miR-766-5p	PAR-CLIP	26701625
MIRT476448	hsa-miR-873-5p	PAR-CLIP	26701625
MIRT476448	hsa-miR-873-5p	PAR-CLIP	26701625
MIRT476461	hsa-miR-24-3p	PAR-CLIP	23592263
MIRT476459	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT476460	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT476457	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT476458	hsa-miR-4753-5p	PAR-CLIP	23592263
MIRT476456	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT476455	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT476454	hsa-miR-6847-5p	PAR-CLIP	23592263
MIRT476453	hsa-miR-4257	PAR-CLIP	23592263
MIRT476452	hsa-miR-4459	PAR-CLIP	23592263
MIRT476451	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT476450	hsa-miR-1266-5p	PAR-CLIP	23592263
MIRT476449	hsa-miR-4518	PAR-CLIP	23592263
MIRT476448	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT476447	hsa-miR-1286	PAR-CLIP	23592263
MIRT476446	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT476445	hsa-miR-4755-3p	PAR-CLIP	23592263
MIRT476444	hsa-miR-3934-3p	PAR-CLIP	23592263
MIRT476443	hsa-miR-4533	PAR-CLIP	23592263
MIRT476442	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT476441	hsa-miR-4284	PAR-CLIP	23592263
MIRT476440	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT476439	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT476438	hsa-miR-4271	PAR-CLIP	23592263
MIRT476437	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT476436	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT476435	hsa-miR-6511b-5p	PAR-CLIP	23592263
MIRT476434	hsa-miR-6811-5p	PAR-CLIP	23592263
MIRT476433	hsa-miR-676-3p	PAR-CLIP	23592263
MIRT476432	hsa-miR-2355-3p	PAR-CLIP	23592263
MIRT476431	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT476430	hsa-miR-5692a	PAR-CLIP	23592263
MIRT476429	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT476428	hsa-miR-6750-5p	PAR-CLIP	23592263
MIRT476427	hsa-miR-6822-5p	PAR-CLIP	23592263
MIRT476426	hsa-miR-8062	PAR-CLIP	23592263
MIRT476425	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT476424	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT476422	hsa-miR-4710	PAR-CLIP	23592263
MIRT476423	hsa-miR-3915	PAR-CLIP	23592263
MIRT476421	hsa-miR-576-5p	PAR-CLIP	23592263
MIRT1013614	hsa-miR-125a-5p	CLIP-seq
MIRT1013615	hsa-miR-125b	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013617	hsa-miR-1266	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT1013619	hsa-miR-155	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT1013621	hsa-miR-193a-3p	CLIP-seq
MIRT1013622	hsa-miR-193b	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013624	hsa-miR-24	CLIP-seq
MIRT1013625	hsa-miR-3135	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT1013629	hsa-miR-3620	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013632	hsa-miR-4319	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT1013636	hsa-miR-4699-3p	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013638	hsa-miR-4732-3p	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT1013641	hsa-miR-670	CLIP-seq
MIRT1013642	hsa-miR-676	CLIP-seq
MIRT1013643	hsa-miR-892b	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT1013614	hsa-miR-125a-5p	CLIP-seq
MIRT1013615	hsa-miR-125b	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013617	hsa-miR-1266	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013624	hsa-miR-24	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT2000245	hsa-miR-4270	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013632	hsa-miR-4319	CLIP-seq
MIRT2000246	hsa-miR-4441	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013638	hsa-miR-4732-3p	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT2000247	hsa-miR-552	CLIP-seq
MIRT1013641	hsa-miR-670	CLIP-seq
MIRT1013642	hsa-miR-676	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013617	hsa-miR-1266	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT2233624	hsa-miR-1470	CLIP-seq
MIRT2233625	hsa-miR-1587	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT2233626	hsa-miR-188-3p	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013624	hsa-miR-24	CLIP-seq
MIRT2233627	hsa-miR-3135b	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT2233628	hsa-miR-3612	CLIP-seq
MIRT2233629	hsa-miR-3652	CLIP-seq
MIRT2233630	hsa-miR-378g	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT2233631	hsa-miR-4430	CLIP-seq
MIRT2233632	hsa-miR-4443	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT2233633	hsa-miR-4492	CLIP-seq
MIRT2233634	hsa-miR-4498	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT2233635	hsa-miR-4656	CLIP-seq
MIRT2233636	hsa-miR-4667-3p	CLIP-seq
MIRT2233637	hsa-miR-4675	CLIP-seq
MIRT2233638	hsa-miR-4687-3p	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT2233639	hsa-miR-4741	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT2233640	hsa-miR-485-5p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT2233641	hsa-miR-532-3p	CLIP-seq
MIRT2233642	hsa-miR-642a	CLIP-seq
MIRT2233643	hsa-miR-650	CLIP-seq
MIRT1013642	hsa-miR-676	CLIP-seq
MIRT2233644	hsa-miR-762	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT2450118	hsa-miR-1228	CLIP-seq
MIRT2450119	hsa-miR-2110	CLIP-seq
MIRT2450120	hsa-miR-4667-5p	CLIP-seq
MIRT2450121	hsa-miR-4700-5p	CLIP-seq
MIRT2450122	hsa-miR-619	CLIP-seq
MIRT2450118	hsa-miR-1228	CLIP-seq
MIRT2450119	hsa-miR-2110	CLIP-seq
MIRT2450120	hsa-miR-4667-5p	CLIP-seq
MIRT2450121	hsa-miR-4700-5p	CLIP-seq
MIRT2450122	hsa-miR-619	CLIP-seq
MIRT2450118	hsa-miR-1228	CLIP-seq
MIRT1013614	hsa-miR-125a-5p	CLIP-seq
MIRT1013615	hsa-miR-125b	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013617	hsa-miR-1266	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT2233625	hsa-miR-1587	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT2450119	hsa-miR-2110	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013624	hsa-miR-24	CLIP-seq
MIRT2233627	hsa-miR-3135b	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT2233628	hsa-miR-3612	CLIP-seq
MIRT2233629	hsa-miR-3652	CLIP-seq
MIRT2233630	hsa-miR-378g	CLIP-seq
MIRT2537551	hsa-miR-3928	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT2000245	hsa-miR-4270	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013632	hsa-miR-4319	CLIP-seq
MIRT2233631	hsa-miR-4430	CLIP-seq
MIRT2000246	hsa-miR-4441	CLIP-seq
MIRT2233632	hsa-miR-4443	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT2233633	hsa-miR-4492	CLIP-seq
MIRT2233634	hsa-miR-4498	CLIP-seq
MIRT2537552	hsa-miR-4505	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT2233635	hsa-miR-4656	CLIP-seq
MIRT2450120	hsa-miR-4667-5p	CLIP-seq
MIRT2233637	hsa-miR-4675	CLIP-seq
MIRT2233638	hsa-miR-4687-3p	CLIP-seq
MIRT2450121	hsa-miR-4700-5p	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013638	hsa-miR-4732-3p	CLIP-seq
MIRT2233639	hsa-miR-4741	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT2233640	hsa-miR-485-5p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT2000247	hsa-miR-552	CLIP-seq
MIRT2450122	hsa-miR-619	CLIP-seq
MIRT2233643	hsa-miR-650	CLIP-seq
MIRT1013641	hsa-miR-670	CLIP-seq
MIRT1013642	hsa-miR-676	CLIP-seq
MIRT2233644	hsa-miR-762	CLIP-seq
MIRT2450118	hsa-miR-1228	CLIP-seq
MIRT1013614	hsa-miR-125a-5p	CLIP-seq
MIRT1013615	hsa-miR-125b	CLIP-seq
MIRT1013616	hsa-miR-1262	CLIP-seq
MIRT1013617	hsa-miR-1266	CLIP-seq
MIRT1013618	hsa-miR-1293	CLIP-seq
MIRT2233625	hsa-miR-1587	CLIP-seq
MIRT1013620	hsa-miR-185	CLIP-seq
MIRT2450119	hsa-miR-2110	CLIP-seq
MIRT1013623	hsa-miR-219-5p	CLIP-seq
MIRT1013624	hsa-miR-24	CLIP-seq
MIRT2233627	hsa-miR-3135b	CLIP-seq
MIRT1013626	hsa-miR-3154	CLIP-seq
MIRT1013627	hsa-miR-3179	CLIP-seq
MIRT1013628	hsa-miR-3202	CLIP-seq
MIRT2233628	hsa-miR-3612	CLIP-seq
MIRT2233629	hsa-miR-3652	CLIP-seq
MIRT2233630	hsa-miR-378g	CLIP-seq
MIRT1013630	hsa-miR-3936	CLIP-seq
MIRT2000245	hsa-miR-4270	CLIP-seq
MIRT1013631	hsa-miR-4306	CLIP-seq
MIRT1013632	hsa-miR-4319	CLIP-seq
MIRT2233631	hsa-miR-4430	CLIP-seq
MIRT2000246	hsa-miR-4441	CLIP-seq
MIRT2233632	hsa-miR-4443	CLIP-seq
MIRT1013633	hsa-miR-4445	CLIP-seq
MIRT1013634	hsa-miR-4483	CLIP-seq
MIRT2233633	hsa-miR-4492	CLIP-seq
MIRT2233634	hsa-miR-4498	CLIP-seq
MIRT2537552	hsa-miR-4505	CLIP-seq
MIRT1013635	hsa-miR-4644	CLIP-seq
MIRT2233635	hsa-miR-4656	CLIP-seq
MIRT2450120	hsa-miR-4667-5p	CLIP-seq
MIRT2233637	hsa-miR-4675	CLIP-seq
MIRT2233638	hsa-miR-4687-3p	CLIP-seq
MIRT2450121	hsa-miR-4700-5p	CLIP-seq
MIRT1013637	hsa-miR-4701-3p	CLIP-seq
MIRT1013638	hsa-miR-4732-3p	CLIP-seq
MIRT2233639	hsa-miR-4741	CLIP-seq
MIRT1013639	hsa-miR-4782-3p	CLIP-seq
MIRT2233640	hsa-miR-485-5p	CLIP-seq
MIRT1013640	hsa-miR-508-3p	CLIP-seq
MIRT2000247	hsa-miR-552	CLIP-seq
MIRT2450122	hsa-miR-619	CLIP-seq
MIRT2233643	hsa-miR-650	CLIP-seq
MIRT1013641	hsa-miR-670	CLIP-seq
MIRT1013642	hsa-miR-676	CLIP-seq
MIRT2233644	hsa-miR-762	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	ISS
GO:0004336	Function	Galactosylceramidase activity	IEA
GO:0004348	Function	Glucosylceramidase activity	IDA	17080196
GO:0004348	Function	Glucosylceramidase activity	IEA
GO:0004348	Function	Glucosylceramidase activity	TAS
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005790	Component	Smooth endoplasmic reticulum	TAS	11489889
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006680	Process	Glucosylceramide catabolic process	IDA	17080196
GO:0006680	Process	Glucosylceramide catabolic process	IEA
GO:0006680	Process	Glucosylceramide catabolic process	IMP	30308956
GO:0007417	Process	Central nervous system development	IBA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	ISS
GO:0008206	Process	Bile acid metabolic process	IDA	17105727
GO:0008206	Process	Bile acid metabolic process	TAS	11489889
GO:0008422	Function	Beta-glucosidase activity	IBA
GO:0008422	Function	Beta-glucosidase activity	IDA	11489889
GO:0008422	Function	Beta-glucosidase activity	IEA
GO:0016020	Component	Membrane	IDA	17105727
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11489889
GO:0016139	Process	Glycoside catabolic process	IDA	17105727
GO:0016139	Process	Glycoside catabolic process	NAS	11489889
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0021954	Process	Central nervous system neuron development	IMP	23332916
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0030833	Process	Regulation of actin filament polymerization	ISS
GO:0031113	Process	Regulation of microtubule polymerization	IEA
GO:0031113	Process	Regulation of microtubule polymerization	ISS
GO:0044281	Process	Small molecule metabolic process	IEA
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0046527	Function	Glucosyltransferase activity	IEA
GO:0046527	Function	Glucosyltransferase activity	ISS
GO:0050295	Function	Steryl-beta-glucosidase activity	IEA
GO:0050295	Function	Steryl-beta-glucosidase activity	ISS
GO:0097035	Process	Regulation of membrane lipid distribution	IEA
GO:0097035	Process	Regulation of membrane lipid distribution	ISS

MIM	HGNC	e!Ensembl
609471	18986	ENSG00000070610

Q9HCG7

Protein name

Non-lysosomal glucosylceramidase (NLGase) (EC 3.2.1.45) (Beta-glucocerebrosidase 2) (Beta-glucosidase 2) (Bile acid beta-glucosidase GBA2) (Bile acid glucosyl transferase GBA2) (Cholesterol glucosyltransferase GBA2) (EC 2.4.1.-) (Cholesteryl-beta-glucosid

Protein function

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, P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12215	Glyco_hydr_116N	151 → 455	beta-glucosidase 2, glycosyl-hydrolase family 116 N-term	Family
PF04685	DUF608	521 → 886	Glycosyl-hydrolase family 116, catalytic region	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:11489889). Mainly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower levels in liver, spleen, small intestine and lung (PubMed:11489889). Detectable in colon, thymus and peri

Sequence

MGTQDPGNMGTGVPASEQISCAKEDPQVYCPEETGGTKDVQVTDCKSPEDSRPPKETDCC
NPEDSGQLMVSYEGKAMGYQVPPFGWRICLAHEFTEKRKPFQANNVSLSNMIKHIGMGLR
YLQWWYRKTHVEKKTPFIDMINSVPLRQIYGCPLGGIGGGTITRGWRGQFCRWQLNPGMY
QHRTVIADQFTVCLRREGQTVYQQVLSLERPSVLRSWNWGLCGYFAFYHALYPRAWTVYQ
LPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGDEALDVSIMFSMRNGLGGGDD
APGGLWNEPFCLERSGETVRGLLLHHPTLPNPYTMAVAARVTAATTVTHITAFDPDSTGQ
QVWQDLLQDGQLDSPTGQSTPTQKGVGIAGAVCVSSKLRPRGQCRLEFSLAWDMPRIMFG
AKGQVHYRRYTRFFGQDGDAAPALSHYALCRYAEWEERISAWQSPVLDDRSLPAWYKSAL
FNELYFLADGGTVWLEVLEDSLPEELGRNMCHLRPTLRDYGRFGYLEGQEYRMYNTYDVH
FYASFALIMLWPKLELSLQYDMALATLREDLTRRRYLMSGVMAPVKRRNVIPHDIGDPDD
EPWLRVNAYLIHDTADWKDLNLKFVLQVYRDYYLTGDQNFLKDMWPVCLAVMESEMKFDK
DHDGLIENGGYADQTYDGWVTTGPSAYCGGLWLAAVAVMVQMAALCGAQDIQDKFSSILS
RGQEAYERLLWNGRYYNYDSSSRPQSRSVMSDQCAGQWFLKACGLGEGDTEVFPTQHVVR
ALQTIFELNVQAFAGGAMGAVNGMQPHGVPDKSSVQSDEVWVGVVYGLAATMIQEGLTWE
GFQTAEGCYRTVWERLGLAFQTPEAYCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKASW
PKVKQGTGLRTGPMFGPKEAMANLSPE

Sequence length

927

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Sphingolipid metabolism Metabolic pathways		Glycosphingolipid metabolism

321

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CEP290-related ciliopathy	Likely pathogenic	rs2490908908	RCV003328528
GBA2-related disorder	Pathogenic	rs1448182827	RCV004758048
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs398123012, rs398123015	RCV000515985 RCV000515888
Hereditary spastic paraplegia 46	Likely pathogenic; Pathogenic	rs2490823676, rs1347178549, rs1188035446, rs2490908908, rs759632589, rs398123012, rs398123013, rs1588010939, rs398123014, rs398123015, rs1448182827, rs1588022768, rs1588023668, rs398123064, rs2131945469 View all (3 more)	RCV002465072 RCV003145809 RCV003314394 RCV003318467 RCV003994807 RCV000034369 RCV000034370 RCV000034372 RCV000034373 RCV000034374 RCV004526754 RCV000790866 RCV000790865 RCV000077800 RCV001391541 RCV001391540 RCV001280545 RCV001280667
Neurodevelopmental disorder	Likely pathogenic	rs1008414642	RCV003389219
Spastic paraplegia	Likely pathogenic; Pathogenic	rs2131972800, rs2131951562, rs1354082523, rs2490864574, rs779331792, rs2490837980, rs749211700, rs2490887236, rs1172818341, rs200268523, rs398123013, rs398123014, rs1448182827, rs1588001500, rs1011987148 View all (3 more)	RCV001377075 RCV002007263 RCV002007509 RCV002871154 RCV003018767 RCV003051783 RCV003590539 RCV003588298 RCV003752049 RCV000526525 RCV005055533 RCV001043691 RCV000687537 RCV000805434 RCV000808482 RCV001201652 RCV001239024 RCV002541750

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Uncertain significance	rs148717501	RCV005928661
Cerebellar ataxia	Uncertain significance	rs1826525053	RCV001250476
Gastric cancer	Likely benign	rs73438752	RCV005917907
Hereditary spastic paraplegia 5A	Uncertain significance; Conflicting classifications of pathogenicity	rs35818148, rs374309697	RCV000500016 RCV000500837
Intellectual disability	Uncertain significance	rs1826437611, rs1826525053	RCV001250475 RCV001250476
Lung cancer	Likely benign	rs73438752	RCV005917908
Polyneuropathy	Uncertain significance	rs1826437611, rs1826525053	RCV001250475 RCV001250476
Primary dilated cardiomyopathy	Uncertain significance	rs1826437611, rs1826525053	RCV001250475 RCV001250476
See cases	Uncertain significance	rs373450271	RCV002252521
Spastic paraparesis	Uncertain significance	rs1826437611, rs1826525053	RCV001250475 RCV001250476
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs369401526	RCV005910804

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	24337409
Carcinoma Non Small Cell Lung	Associate	32859637
Cataract	Associate	28052128
Cerebellar Ataxia	Associate	23332917, 28052128, 30308956
Charcot Marie Tooth Disease	Associate	26492578
Cystic Fibrosis	Associate	29333001
Dermatitis Atopic	Inhibit	35462437
Fractures Spontaneous	Associate	32492073
Gaucher Disease	Associate	23332917, 28052128
Genetic Diseases Inborn	Associate	26492578
Heredodegenerative Disorders Nervous System	Associate	32492073
Intellectual Disability	Associate	28052128
Muscle Spasticity	Associate	23332917
Neoplastic Syndromes Hereditary	Associate	24337409
Neurologic Manifestations	Associate	30308956
NOG Related Symphalangism Spectrum Disorder	Associate	24337409
Parkinson Disease	Associate	31703585
Peripheral Nervous System Diseases	Associate	26556829
Prodromal Symptoms	Associate	32859637
Sleep Deprivation	Associate	32492073
Spastic Ataxia	Associate	23332917, 30308956, 32492073, 32937819
Spastic Paraplegia Hereditary	Associate	24337409, 26492578, 26556829, 29980238, 30308956, 32492073
Spinocerebellar Ataxia Autosomal Recessive 8	Associate	23332917
Spinocerebellar Degenerations	Associate	24337409, 28052128, 30308956, 32492073

GBA2 (glucosylceramidase beta 2)