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	2629
Gene name	Glucosylceramidase beta 1
Gene symbol	GBA1
Synonyms (NCBI Gene)	GBAGCBGLUC
Chromosome	1
Chromosome location	1q22

110

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SNP ID	Visualize variation	Clinical significance	Consequence
rs364897	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs368060	C>G	Benign, pathogenic	Coding sequence variant, missense variant
rs381418	A>C	Pathogenic	Coding sequence variant, missense variant
rs381737	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs409652	C>T	Pathogenic	Coding sequence variant, missense variant
rs421016	A>C,G	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, risk-factor	Coding sequence variant, missense variant
rs439898	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057942	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064644	A>G	Pathogenic	Coding sequence variant, missense variant
rs1064651	C>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1135675	C>G	Benign-likely-benign, pathogenic	Coding sequence variant, synonymous variant
rs1141814	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs2230288	C>T	Conflicting-interpretations-of-pathogenicity, benign, risk-factor, pathogenic	Coding sequence variant, missense variant
rs61748906	A>G	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74462743	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs74500255	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74598136	G>A	Pathogenic	Missense variant, coding sequence variant
rs74731340	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs75671029	C>T	Risk-factor	Missense variant, coding sequence variant
rs75822236	C>T	Pathogenic	Missense variant, coding sequence variant
rs76539814	G>A	Pathogenic	Missense variant, coding sequence variant
rs76763715	T>C,G	Likely-pathogenic, risk-factor, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs77369218	T>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs77829017	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs78198234	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs78396650	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs78973108	C>T	Pathogenic	Missense variant, coding sequence variant
rs79653797	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs79796061	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs80356760	->C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs80356763	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80356768	ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs80356769	C>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80356771	G>A,T	Risk-factor, pathogenic	Missense variant, coding sequence variant
rs80356772	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104886460	C>A,T	Pathogenic	Splice donor variant, intron variant
rs121908295	G>C	Pathogenic	Missense variant, coding sequence variant
rs121908297	T>G	Pathogenic	Missense variant, coding sequence variant
rs121908298	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908299	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908300	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908301	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908302	C>A	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121908303	A>C	Pathogenic	Missense variant, coding sequence variant
rs121908304	C>A	Pathogenic	Missense variant, coding sequence variant
rs121908305	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121908306	A>C	Pathogenic	Missense variant, coding sequence variant
rs121908307	C>G	Pathogenic	Missense variant, coding sequence variant
rs121908308	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121908309	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs121908310	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs121908311	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908312	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs121908313	G>T	Pathogenic	Missense variant, coding sequence variant
rs121908314	G>C	Pathogenic	Missense variant, coding sequence variant
rs147138516	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs149171124	C>A,T	Likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs367968666	A>C	Pathogenic, uncertain-significance, likely-pathogenic, other	Missense variant, coding sequence variant
rs369068553	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs374306700	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs374591570	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs387906315	->C	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs397518433	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs397518434	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123526	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs398123527	C>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs398123528	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs398123529	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123530	G>A	Pathogenic	Coding sequence variant, missense variant
rs398123532	G>A	Pathogenic	Coding sequence variant, missense variant
rs747506979	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs749227753	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs749714463	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs754743440	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs755265316	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs757041827	G>A,C	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs761621516	GTA>-	Pathogenic	5 prime UTR variant, coding sequence variant, inframe deletion
rs765633380	G>A	Pathogenic	Coding sequence variant, missense variant
rs770796008	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs772548282	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs773409311	T>C	Pathogenic	Missense variant, coding sequence variant
rs781152868	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786200979	AT>CC	Likely-pathogenic	Missense variant, coding sequence variant
rs794727708	A>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs794727908	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs867929413	C>T	Pathogenic	Coding sequence variant, stop gained
rs878853314	C>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs878853315	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs878853316	G>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs878853317	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs878853318	A>C	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs878853319	C>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs878853320	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs878853321	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs886042192	T>A	Pathogenic	Coding sequence variant, stop gained
rs1057524702	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1237637353	C>G	Pathogenic	Splice acceptor variant
rs1264734195	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553216985	A>T	Pathogenic	Coding sequence variant, missense variant
rs1553217009	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553217294	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553217314	A>-	Pathogenic	Coding sequence variant, stop gained
rs1553217626	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553217879	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553217946	C>T	Pathogenic	Coding sequence variant, missense variant
rs1557901325	G>A	Pathogenic	Stop gained, coding sequence variant
rs1557901552	A>T	Pathogenic	Coding sequence variant, missense variant
rs1571964338	C>T	Pathogenic	Splice acceptor variant
rs1571965880	A>G	Pathogenic	Splice donor variant
rs1571969643	G>T	Pathogenic	Intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT045817	hsa-miR-191-5p	CLASH	23622248
MIRT456295	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT456294	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT456293	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT456292	hsa-miR-6733-3p	PAR-CLIP	23592263
MIRT456291	hsa-miR-4735-5p	PAR-CLIP	23592263
MIRT456290	hsa-miR-1236-3p	PAR-CLIP	23592263
MIRT456288	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT456289	hsa-miR-4648	PAR-CLIP	23592263
MIRT456287	hsa-miR-1302	PAR-CLIP	23592263
MIRT456286	hsa-miR-4298	PAR-CLIP	23592263
MIRT456295	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT456294	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT456293	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT456292	hsa-miR-6733-3p	PAR-CLIP	23592263
MIRT456291	hsa-miR-4735-5p	PAR-CLIP	23592263
MIRT456290	hsa-miR-1236-3p	PAR-CLIP	23592263
MIRT456288	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT456289	hsa-miR-4648	PAR-CLIP	23592263
MIRT456287	hsa-miR-1302	PAR-CLIP	23592263
MIRT456286	hsa-miR-4298	PAR-CLIP	23592263
MIRT1013644	hsa-miR-3117-5p	CLIP-seq
MIRT1013645	hsa-miR-4277	CLIP-seq
MIRT1013646	hsa-miR-4728-3p	CLIP-seq
MIRT1013647	hsa-miR-544	CLIP-seq
MIRT1013648	hsa-miR-628-5p	CLIP-seq
MIRT1013649	hsa-miR-1225-3p	CLIP-seq
MIRT1013650	hsa-miR-1233	CLIP-seq
MIRT1013651	hsa-miR-1343	CLIP-seq
MIRT1013652	hsa-miR-138	CLIP-seq
MIRT1013653	hsa-miR-155	CLIP-seq
MIRT1013654	hsa-miR-15a	CLIP-seq
MIRT1013655	hsa-miR-15b	CLIP-seq
MIRT1013656	hsa-miR-16	CLIP-seq
MIRT1013657	hsa-miR-1825	CLIP-seq
MIRT1013658	hsa-miR-195	CLIP-seq
MIRT1013659	hsa-miR-204	CLIP-seq
MIRT1013660	hsa-miR-211	CLIP-seq
MIRT1013661	hsa-miR-22	CLIP-seq
MIRT1013662	hsa-miR-23a	CLIP-seq
MIRT1013663	hsa-miR-23b	CLIP-seq
MIRT1013664	hsa-miR-23c	CLIP-seq
MIRT1013665	hsa-miR-3064-5p	CLIP-seq
MIRT1013666	hsa-miR-3074-5p	CLIP-seq
MIRT1013667	hsa-miR-3160-3p	CLIP-seq
MIRT1013668	hsa-miR-330-3p	CLIP-seq
MIRT1013669	hsa-miR-345	CLIP-seq
MIRT1013670	hsa-miR-365	CLIP-seq
MIRT1013671	hsa-miR-3652	CLIP-seq
MIRT1013672	hsa-miR-3658	CLIP-seq
MIRT1013673	hsa-miR-3664-5p	CLIP-seq
MIRT1013674	hsa-miR-3929	CLIP-seq
MIRT1013675	hsa-miR-424	CLIP-seq
MIRT1013676	hsa-miR-4279	CLIP-seq
MIRT1013677	hsa-miR-4419b	CLIP-seq
MIRT1013678	hsa-miR-4430	CLIP-seq
MIRT1013679	hsa-miR-4478	CLIP-seq
MIRT1013680	hsa-miR-4487	CLIP-seq
MIRT1013681	hsa-miR-4505	CLIP-seq
MIRT1013682	hsa-miR-4522	CLIP-seq
MIRT1013683	hsa-miR-4663	CLIP-seq
MIRT1013684	hsa-miR-4686	CLIP-seq
MIRT1013685	hsa-miR-4769-3p	CLIP-seq
MIRT1013686	hsa-miR-496	CLIP-seq
MIRT1013687	hsa-miR-497	CLIP-seq
MIRT1013688	hsa-miR-515-3p	CLIP-seq
MIRT1013689	hsa-miR-519e	CLIP-seq
MIRT1013690	hsa-miR-548q	CLIP-seq
MIRT1013691	hsa-miR-558	CLIP-seq
MIRT1013692	hsa-miR-331-3p	CLIP-seq
MIRT1013693	hsa-miR-4688	CLIP-seq
MIRT1013694	hsa-miR-766	CLIP-seq
MIRT2000248	hsa-miR-1236	CLIP-seq
MIRT2000249	hsa-miR-1245b-5p	CLIP-seq
MIRT2000250	hsa-miR-1254	CLIP-seq
MIRT2000251	hsa-miR-132	CLIP-seq
MIRT2000252	hsa-miR-145	CLIP-seq
MIRT2000253	hsa-miR-212	CLIP-seq
MIRT2000254	hsa-miR-296-5p	CLIP-seq
MIRT2000255	hsa-miR-3116	CLIP-seq
MIRT1013644	hsa-miR-3117-5p	CLIP-seq
MIRT2000256	hsa-miR-3124-3p	CLIP-seq
MIRT2000257	hsa-miR-3142	CLIP-seq
MIRT2000258	hsa-miR-3620	CLIP-seq
MIRT2000259	hsa-miR-3670	CLIP-seq
MIRT2000260	hsa-miR-3685	CLIP-seq
MIRT2000261	hsa-miR-3690	CLIP-seq
MIRT2000262	hsa-miR-384	CLIP-seq
MIRT2000263	hsa-miR-3925-3p	CLIP-seq
MIRT1013645	hsa-miR-4277	CLIP-seq
MIRT2000264	hsa-miR-4328	CLIP-seq
MIRT2000265	hsa-miR-4474-5p	CLIP-seq
MIRT2000266	hsa-miR-4690-3p	CLIP-seq
MIRT2000267	hsa-miR-4778-3p	CLIP-seq
MIRT1013647	hsa-miR-544	CLIP-seq
MIRT2000268	hsa-miR-581	CLIP-seq
MIRT2000269	hsa-miR-665	CLIP-seq
MIRT2000270	hsa-miR-711	CLIP-seq
MIRT1013694	hsa-miR-766	CLIP-seq
MIRT1013644	hsa-miR-3117-5p	CLIP-seq
MIRT1013645	hsa-miR-4277	CLIP-seq
MIRT1013647	hsa-miR-544	CLIP-seq
MIRT1013653	hsa-miR-155	CLIP-seq
MIRT1013659	hsa-miR-204	CLIP-seq
MIRT1013660	hsa-miR-211	CLIP-seq
MIRT2437392	hsa-miR-2277-3p	CLIP-seq
MIRT1013667	hsa-miR-3160-3p	CLIP-seq
MIRT1013669	hsa-miR-345	CLIP-seq
MIRT1013670	hsa-miR-365	CLIP-seq
MIRT1013673	hsa-miR-3664-5p	CLIP-seq
MIRT1013680	hsa-miR-4487	CLIP-seq
MIRT1013682	hsa-miR-4522	CLIP-seq
MIRT1013691	hsa-miR-558	CLIP-seq
MIRT1013649	hsa-miR-1225-3p	CLIP-seq
MIRT1013650	hsa-miR-1233	CLIP-seq
MIRT2000248	hsa-miR-1236	CLIP-seq
MIRT2000249	hsa-miR-1245b-5p	CLIP-seq
MIRT2000250	hsa-miR-1254	CLIP-seq
MIRT2537553	hsa-miR-1291	CLIP-seq
MIRT2000251	hsa-miR-132	CLIP-seq
MIRT2537554	hsa-miR-1324	CLIP-seq
MIRT2000252	hsa-miR-145	CLIP-seq
MIRT1013653	hsa-miR-155	CLIP-seq
MIRT1013654	hsa-miR-15a	CLIP-seq
MIRT1013655	hsa-miR-15b	CLIP-seq
MIRT1013656	hsa-miR-16	CLIP-seq
MIRT1013657	hsa-miR-1825	CLIP-seq
MIRT2537555	hsa-miR-193a-3p	CLIP-seq
MIRT2537556	hsa-miR-193b	CLIP-seq
MIRT1013658	hsa-miR-195	CLIP-seq
MIRT1013659	hsa-miR-204	CLIP-seq
MIRT1013660	hsa-miR-211	CLIP-seq
MIRT2000253	hsa-miR-212	CLIP-seq
MIRT2437392	hsa-miR-2277-3p	CLIP-seq
MIRT2000254	hsa-miR-296-5p	CLIP-seq
MIRT2000255	hsa-miR-3116	CLIP-seq
MIRT1013644	hsa-miR-3117-5p	CLIP-seq
MIRT2000256	hsa-miR-3124-3p	CLIP-seq
MIRT2000257	hsa-miR-3142	CLIP-seq
MIRT1013667	hsa-miR-3160-3p	CLIP-seq
MIRT2537557	hsa-miR-3173-5p	CLIP-seq
MIRT2537558	hsa-miR-328	CLIP-seq
MIRT1013668	hsa-miR-330-3p	CLIP-seq
MIRT1013692	hsa-miR-331-3p	CLIP-seq
MIRT2537559	hsa-miR-342-3p	CLIP-seq
MIRT1013669	hsa-miR-345	CLIP-seq
MIRT2000258	hsa-miR-3620	CLIP-seq
MIRT1013670	hsa-miR-365	CLIP-seq
MIRT1013673	hsa-miR-3664-5p	CLIP-seq
MIRT2000259	hsa-miR-3670	CLIP-seq
MIRT2000260	hsa-miR-3685	CLIP-seq
MIRT2000261	hsa-miR-3690	CLIP-seq
MIRT2537560	hsa-miR-370	CLIP-seq
MIRT2537561	hsa-miR-378g	CLIP-seq
MIRT2000262	hsa-miR-384	CLIP-seq
MIRT2000263	hsa-miR-3925-3p	CLIP-seq
MIRT1013674	hsa-miR-3929	CLIP-seq
MIRT1013675	hsa-miR-424	CLIP-seq
MIRT1013645	hsa-miR-4277	CLIP-seq
MIRT2537562	hsa-miR-4290	CLIP-seq
MIRT2537563	hsa-miR-4292	CLIP-seq
MIRT2537564	hsa-miR-4317	CLIP-seq
MIRT2000264	hsa-miR-4328	CLIP-seq
MIRT1013677	hsa-miR-4419b	CLIP-seq
MIRT2000265	hsa-miR-4474-5p	CLIP-seq
MIRT1013679	hsa-miR-4478	CLIP-seq
MIRT1013680	hsa-miR-4487	CLIP-seq
MIRT1013682	hsa-miR-4522	CLIP-seq
MIRT1013683	hsa-miR-4663	CLIP-seq
MIRT1013684	hsa-miR-4686	CLIP-seq
MIRT2000266	hsa-miR-4690-3p	CLIP-seq
MIRT2537565	hsa-miR-4749-3p	CLIP-seq
MIRT2000267	hsa-miR-4778-3p	CLIP-seq
MIRT2537566	hsa-miR-4788	CLIP-seq
MIRT1013686	hsa-miR-496	CLIP-seq
MIRT1013687	hsa-miR-497	CLIP-seq
MIRT1013688	hsa-miR-515-3p	CLIP-seq
MIRT1013689	hsa-miR-519e	CLIP-seq
MIRT1013647	hsa-miR-544	CLIP-seq
MIRT1013691	hsa-miR-558	CLIP-seq
MIRT2000268	hsa-miR-581	CLIP-seq
MIRT2000269	hsa-miR-665	CLIP-seq
MIRT2000270	hsa-miR-711	CLIP-seq
MIRT1013694	hsa-miR-766	CLIP-seq
MIRT2537567	hsa-miR-767-3p	CLIP-seq
MIRT1013649	hsa-miR-1225-3p	CLIP-seq
MIRT1013650	hsa-miR-1233	CLIP-seq
MIRT2000248	hsa-miR-1236	CLIP-seq
MIRT2000249	hsa-miR-1245b-5p	CLIP-seq
MIRT2000250	hsa-miR-1254	CLIP-seq
MIRT2537553	hsa-miR-1291	CLIP-seq
MIRT2000251	hsa-miR-132	CLIP-seq
MIRT2537554	hsa-miR-1324	CLIP-seq
MIRT2000252	hsa-miR-145	CLIP-seq
MIRT1013653	hsa-miR-155	CLIP-seq
MIRT1013654	hsa-miR-15a	CLIP-seq
MIRT1013655	hsa-miR-15b	CLIP-seq
MIRT1013656	hsa-miR-16	CLIP-seq
MIRT1013657	hsa-miR-1825	CLIP-seq
MIRT2537555	hsa-miR-193a-3p	CLIP-seq
MIRT2537556	hsa-miR-193b	CLIP-seq
MIRT1013658	hsa-miR-195	CLIP-seq
MIRT1013659	hsa-miR-204	CLIP-seq
MIRT1013660	hsa-miR-211	CLIP-seq
MIRT2000253	hsa-miR-212	CLIP-seq
MIRT2437392	hsa-miR-2277-3p	CLIP-seq
MIRT2000254	hsa-miR-296-5p	CLIP-seq
MIRT2000255	hsa-miR-3116	CLIP-seq
MIRT1013644	hsa-miR-3117-5p	CLIP-seq
MIRT2000256	hsa-miR-3124-3p	CLIP-seq
MIRT2000257	hsa-miR-3142	CLIP-seq
MIRT1013667	hsa-miR-3160-3p	CLIP-seq
MIRT2537557	hsa-miR-3173-5p	CLIP-seq
MIRT2537558	hsa-miR-328	CLIP-seq
MIRT1013668	hsa-miR-330-3p	CLIP-seq
MIRT1013692	hsa-miR-331-3p	CLIP-seq
MIRT2537559	hsa-miR-342-3p	CLIP-seq
MIRT1013669	hsa-miR-345	CLIP-seq
MIRT2000258	hsa-miR-3620	CLIP-seq
MIRT1013670	hsa-miR-365	CLIP-seq
MIRT1013673	hsa-miR-3664-5p	CLIP-seq
MIRT2000259	hsa-miR-3670	CLIP-seq
MIRT2000260	hsa-miR-3685	CLIP-seq
MIRT2000261	hsa-miR-3690	CLIP-seq
MIRT2537560	hsa-miR-370	CLIP-seq
MIRT2537561	hsa-miR-378g	CLIP-seq
MIRT2000262	hsa-miR-384	CLIP-seq
MIRT2000263	hsa-miR-3925-3p	CLIP-seq
MIRT1013674	hsa-miR-3929	CLIP-seq
MIRT1013675	hsa-miR-424	CLIP-seq
MIRT1013645	hsa-miR-4277	CLIP-seq
MIRT2537562	hsa-miR-4290	CLIP-seq
MIRT2537563	hsa-miR-4292	CLIP-seq
MIRT2537564	hsa-miR-4317	CLIP-seq
MIRT2000264	hsa-miR-4328	CLIP-seq
MIRT1013677	hsa-miR-4419b	CLIP-seq
MIRT2000265	hsa-miR-4474-5p	CLIP-seq
MIRT1013679	hsa-miR-4478	CLIP-seq
MIRT1013680	hsa-miR-4487	CLIP-seq
MIRT1013682	hsa-miR-4522	CLIP-seq
MIRT1013683	hsa-miR-4663	CLIP-seq
MIRT1013684	hsa-miR-4686	CLIP-seq
MIRT2000266	hsa-miR-4690-3p	CLIP-seq
MIRT2537565	hsa-miR-4749-3p	CLIP-seq
MIRT2000267	hsa-miR-4778-3p	CLIP-seq
MIRT2537566	hsa-miR-4788	CLIP-seq
MIRT1013686	hsa-miR-496	CLIP-seq
MIRT1013687	hsa-miR-497	CLIP-seq
MIRT1013688	hsa-miR-515-3p	CLIP-seq
MIRT1013689	hsa-miR-519e	CLIP-seq
MIRT1013647	hsa-miR-544	CLIP-seq
MIRT1013691	hsa-miR-558	CLIP-seq
MIRT2000268	hsa-miR-581	CLIP-seq
MIRT2000269	hsa-miR-665	CLIP-seq
MIRT2000270	hsa-miR-711	CLIP-seq
MIRT1013694	hsa-miR-766	CLIP-seq
MIRT2537567	hsa-miR-767-3p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
ETV4	Unknown	9272862

110

Show/Hide all (110)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000423	Process	Mitophagy	IEA
GO:0004336	Function	Galactosylceramidase activity	IEA
GO:0004348	Function	Glucosylceramidase activity	IBA
GO:0004348	Function	Glucosylceramidase activity	IDA	9201993, 16293621, 19279011, 24211208
GO:0004348	Function	Glucosylceramidase activity	IEA
GO:0004348	Function	Glucosylceramidase activity	IMP	15916907, 21700325, 23580063, 25584808
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	ISS	18022370
GO:0005124	Function	Scavenger receptor binding	IPI	25202012
GO:0005515	Function	Protein binding	IPI	21098288, 24162852, 27789271
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IMP	25202012
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	17187079
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	ISS	18022370
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005802	Component	Trans-Golgi network	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006678	Process	Glucosylceramide metabolic process	IEA
GO:0006680	Process	Glucosylceramide catabolic process	IBA
GO:0006680	Process	Glucosylceramide catabolic process	IDA	9201993, 16293621, 24211208
GO:0006680	Process	Glucosylceramide catabolic process	IEA
GO:0006680	Process	Glucosylceramide catabolic process	IMP	19279011, 21700325, 24022302, 25584808
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	IMP	27378698
GO:0007005	Process	Mitochondrion organization	IMP	25456120
GO:0007040	Process	Lysosome organization	IEA
GO:0007040	Process	Lysosome organization	IMP	27378698
GO:0007417	Process	Central nervous system development	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IDA	24211208, 26724485
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008422	Function	Beta-glucosidase activity	IEA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009268	Process	Response to pH	IEA
GO:0010605	Process	Negative regulation of macromolecule metabolic process	IEA
GO:0014004	Process	Microglia differentiation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	IEA
GO:0016241	Process	Regulation of macroautophagy	TAS	26388395
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:0019882	Process	Antigen processing and presentation	IEA
GO:0019915	Process	Lipid storage	IEA
GO:0021694	Process	Cerebellar Purkinje cell layer formation	IEA
GO:0021859	Process	Pyramidal neuron differentiation	IEA
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0023021	Process	Termination of signal transduction	IMP	19279008
GO:0031175	Process	Neuron projection development	IMP	25456120
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IEA
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IEA
GO:0032006	Process	Regulation of TOR signaling	IEA
GO:0032006	Process	Regulation of TOR signaling	IMP	27378698
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032715	Process	Negative regulation of interleukin-6 production	IDA	19279008
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033574	Process	Response to testosterone	IEA
GO:0042176	Process	Regulation of protein catabolic process	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	ISS	18022370
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	19279008
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0046512	Process	Sphingosine biosynthetic process	IMP	19279011
GO:0046513	Process	Ceramide biosynthetic process	IMP	19279011
GO:0046527	Function	Glucosyltransferase activity	IDA	24211208, 26724485
GO:0046527	Function	Glucosyltransferase activity	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048854	Process	Brain morphogenesis	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050295	Function	Steryl-beta-glucosidase activity	IDA	24211208, 26724485
GO:0050295	Function	Steryl-beta-glucosidase activity	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IMP	19279008
GO:0050877	Process	Nervous system process	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051246	Process	Regulation of protein metabolic process	IEA
GO:0051247	Process	Positive regulation of protein metabolic process	IEA
GO:0051248	Process	Negative regulation of protein metabolic process	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061518	Process	Microglial cell proliferation	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071356	Process	Cellular response to tumor necrosis factor	IMP	19279008
GO:0071425	Process	Hematopoietic stem cell proliferation	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0072676	Process	Lymphocyte migration	IEA
GO:0097066	Process	Response to thyroid hormone	IEA
GO:0098773	Process	Skin epidermis development	IEA
GO:1901805	Process	Beta-glucoside catabolic process	IEA
GO:1903052	Process	Positive regulation of proteolysis involved in protein catabolic process	IEA
GO:1904457	Process	Positive regulation of neuronal action potential	IMP	25456120
GO:1905037	Process	Autophagosome organization	IEA
GO:1905091	Process	Positive regulation of type 2 mitophagy	IEA
GO:1905146	Process	Lysosomal protein catabolic process	IDA	26392287
GO:1905165	Process	Regulation of lysosomal protein catabolic process	TAS	25456120

MIM	HGNC	e!Ensembl
606463	4177	ENSG00000177628

P04062

Protein name

Lysosomal acid glucosylceramidase (Lysosomal acid GCase) (EC 3.2.1.45) (Acid beta-glucosidase) (Alglucerase) (Beta-glucocerebrosidase) (Beta-GC) (Beta-glucosylceramidase 1) (Cholesterol glucosyltransferase) (SGTase) (EC 2.4.1.-) (Cholesteryl-beta-glucosid

Protein function

Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) into free ceramides (such as N-acylsphing-4-enine) and glucose (PubMed:15916

PDB

1OGS , 1Y7V , 2F61 , 2J25 , 2NSX , 2NT0 , 2NT1 , 2V3D , 2V3E , 2V3F , 2VT0 , 2WCG , 2WKL , 2XWD , 2XWE , 3GXD , 3GXF , 3GXI , 3GXM , 3KE0 , 3KEH , 3RIK , 3RIL , 5LVX , 6MOZ , 6Q1N , 6Q1P , 6Q6K , 6Q6L , 6Q6N , 6T13 , 6TJJ , 6TJK , 6TJQ , 6TN1 , 6YTP , 6YTR , 6YUT , 6YV3 , 6Z39 , 6Z3I , 7NWV , 8AWK , 8AWR , 8AX3 , 8P3E , 8P41 , 9F9Z , 9FA3 , 9FA6 , 9FAD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02055	Glyco_hydro_30	117 → 466	Glycosyl hydrolase family 30 TIM-barrel domain	Domain
PF17189	Glyco_hydro_30C	469 → 531	Glycosyl hydrolase family 30 beta sandwich domain	Domain

Sequence

MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNAT
YCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF
GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDD
FQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP
GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK
ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW
NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK
NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ

Sequence length

536

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Sphingolipid metabolism Metabolic pathways Lysosome		Glycosphingolipid metabolism

676

Show/Hide Causal Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal bleeding	Likely pathogenic; Pathogenic	rs76763715, rs121908311, rs867929413	RCV001270528 RCV001270486 RCV001270597
Akinesia	Likely pathogenic; Pathogenic	rs76763715	RCV000414782
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs104886460	RCV005886260
Dementia, Lewy body, susceptibility to	Pathogenic; Likely pathogenic	rs421016, rs76763715	RCV000004513 RCV000004517
Gaucher disease	Likely pathogenic; Pathogenic	rs1009850780, rs398123528, rs1450426641, rs1178732315, rs1671987417, rs1170895261, rs746019841, rs2148070579, rs2148075419, rs2148070287, rs80356768, rs421016, rs76763715, rs79653797, rs80356769 View all (61 more)	RCV001732184 RCV004699411 RCV001827516 RCV004587196 RCV001779515 RCV001779544 RCV002282581 RCV002223082 RCV002271763 RCV002271843 RCV000020147 RCV000020150 RCV000396221 RCV000020154 RCV000020148 RCV000055773 RCV000020149 RCV000020151 RCV000781409 RCV001248860 RCV000020158 RCV000587723 RCV001193934 RCV000020153 RCV000020156 RCV001248922 RCV000589792 RCV000780288 RCV000055772 RCV000020159 RCV000020155 RCV002281694 RCV001248862 RCV001175549 RCV003123406 RCV003155616 RCV003226690 RCV003230935 RCV003230936 RCV003331578 RCV003331970 RCV003479907 RCV000020152 RCV000020157 RCV004587771 RCV000590277 RCV000590527 RCV000589122 RCV000587644 RCV005240289 RCV000607009 RCV001193933 RCV000781414 RCV000780283 RCV000781408 RCV000780286 RCV000780287 RCV000780285 RCV000781413 RCV001775006 RCV000055774 RCV003317439 RCV001175548 RCV001175547 RCV001193339 RCV003226440 RCV001199909 RCV001199857 RCV001251352 RCV001264492 RCV001269264 RCV001290586 RCV000032094 RCV000781412 RCV001174722 RCV000781411 RCV001249029 RCV000780284 RCV001249030 RCV000589250
Gaucher disease perinatal lethal	Pathogenic; Likely pathogenic	rs2148071537, rs80356768, rs421016, rs76763715, rs79653797, rs1064651, rs121908310, rs121908305, rs397518434, rs78198234, rs121908309, rs78973108, rs80356763, rs121908313, rs1571964338, rs1064644, rs121908308, rs76910485 View all (3 more)	RCV001842231 RCV000004555 RCV001197164 RCV001197918 RCV000004519 RCV000004526 RCV000004544 RCV001197976 RCV000004566 RCV000004569 RCV000004570 RCV000004573 RCV000004574 RCV000004577 RCV000004579 RCV000625849 RCV004796344 RCV001198752
Gaucher disease type I	Likely pathogenic; Pathogenic	rs79215220, rs1671712475, rs746019841, rs80356768, rs421016, rs76763715, rs79653797, rs80356769, rs1064651, rs77369218, rs80356771, rs77829017, rs74500255, rs381737, rs387906315 View all (50 more)	RCV001376104 RCV001542262 RCV001823570 RCV000173718 RCV000004511 RCV000004515 RCV000004518 RCV000004521 RCV000004523 RCV000411499 RCV000004528 RCV000004532 RCV000004537 RCV000004542 RCV000004543 RCV000004547 RCV000004548 RCV000004549 RCV000004550 RCV000004553 RCV000004556 RCV000004557 RCV000004559 RCV000004561 RCV000004564 RCV000004565 RCV001580445 RCV000004568 RCV001249081 RCV000004571 RCV001004125 RCV000004575 RCV000004578 RCV000417294 RCV000225643 RCV000225638 RCV000225396 RCV000225413 RCV000225581 RCV005627259 RCV003988098 RCV005627260 RCV003485997 RCV000409564 RCV001004129 RCV000515467 RCV000761282 RCV002509533 RCV001004136 RCV000999462 RCV002290982 RCV001004118 RCV001078139 RCV001175136 RCV003479285 RCV001200044 RCV001200045 RCV001200046 RCV000177098 RCV001004119 RCV001249087 RCV001004111 RCV001004135 RCV001004133 RCV001004130 RCV001004128
Gaucher disease type II	Pathogenic; Likely pathogenic	rs421016, rs121908295, rs76763715, rs79653797, rs80356769, rs1064651, rs80356771, rs74500255, rs381737, rs387906315, rs76539814, rs75822236, rs364897, rs121908305, rs121908306 View all (15 more)	RCV000004509 RCV000004514 RCV001004117 RCV001250522 RCV001004115 RCV000004524 RCV000004529 RCV001004127 RCV000004541 RCV001004138 RCV000041967 RCV001004108 RCV001004131 RCV000004562 RCV000004563 RCV001004116 RCV001004125 RCV005090183 RCV003448938 RCV001004109 RCV001004129 RCV001004136 RCV000853241 RCV001004118 RCV000004546 RCV001004119 RCV000663363 RCV001004135 RCV001004133 RCV001004130 RCV001004128
Gaucher disease type III	Pathogenic; Likely pathogenic	rs421016, rs76763715, rs79653797, rs80356769, rs1064651, rs77369218, rs80356771, rs74500255, rs381737, rs387906315, rs75822236, rs364897, rs121908308, rs121908311, rs78973108 View all (10 more)	RCV000004510 RCV001004117 RCV001250522 RCV000004520 RCV000004525 RCV000004527 RCV000004530 RCV001004127 RCV000004540 RCV001004138 RCV001004108 RCV000004558 RCV000004567 RCV000004572 RCV001004125 RCV000004576 RCV001004109 RCV001004129 RCV001004136 RCV001004118 RCV001004137 RCV001004119 RCV001004111 RCV001004135 RCV001004133 RCV001004130 RCV001004128
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Pathogenic; Likely pathogenic	rs421016, rs76763715, rs79653797, rs80356769, rs1064651, rs80356771, rs74500255, rs387906315, rs75822236, rs364897, rs121908311, rs78973108, rs80356772, rs1064644, rs761621516 View all (7 more)	RCV001004112 RCV001004117 RCV001250522 RCV001004115 RCV000004522 RCV001004110 RCV001004127 RCV001004138 RCV001004108 RCV001004131 RCV001004116 RCV001004125 RCV001004109 RCV001004129 RCV001004136 RCV001004118 RCV001004137 RCV001004119 RCV001004111 RCV001004135 RCV001004133 RCV001004130 RCV001004128
GBA-related disorder	Likely pathogenic; Pathogenic	rs421016	RCV003335096
GBA1-related disorder	Likely pathogenic; Pathogenic	rs1009850780, rs1671712475, rs421016, rs76763715, rs80356771, rs387906315, rs1141814, rs78973108, rs1161552095, rs761621516	RCV003416342 RCV004752008 RCV003398445 RCV003982824 RCV004751200 RCV004751201 RCV005867721 RCV004554584 RCV004750868 RCV004698849
Hypomimic face	Pathogenic	rs421016	RCV000626625
Lewy body dementia	Pathogenic; Likely pathogenic	rs121908295, rs421016, rs76763715, rs381737, rs1141814, rs761621516	RCV003224821 RCV003987311 RCV002247244 RCV004820816 RCV002247245 RCV002249507
Melanoma	Likely pathogenic; Pathogenic	rs79653797, rs104886460	RCV005887293 RCV005886262
Movement disorder	Pathogenic	rs421016	RCV000626625
Parkinson disease	Likely pathogenic; Pathogenic	rs76763715	RCV001195689
Parkinson disease, late-onset	Likely pathogenic; Pathogenic	rs1009850780, rs1553217009, rs421016, rs76763715, rs80356769, rs1064651, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs747506979, rs747284798, rs794727908, rs867929413 View all (4 more)	RCV001837003 RCV001771807 RCV000004512 RCV000004516 RCV001836694 RCV001836695 RCV000004531 RCV001705580 RCV001836698 RCV004760320 RCV001836699 RCV004720248 RCV005870093 RCV003225714 RCV001836879 RCV000995774 RCV001836981 RCV001253701 RCV002468565
Parkinsonian disorder	Pathogenic	rs421016	RCV000626625
Resting tremor	Pathogenic	rs421016	RCV000626625
Rigidity	Likely pathogenic; Pathogenic	rs76763715	RCV000414782
Sarcoma	Likely pathogenic; Pathogenic	rs104886460	RCV005886261
See cases	Pathogenic	rs1141814	RCV002251874
Thoracolumbar scoliosis	Pathogenic	rs421016	RCV000626625
Thrombocytopenia	Likely pathogenic; Pathogenic	rs76763715, rs121908311, rs867929413	RCV001270528 RCV001270486 RCV001270597
Young-onset Parkinson disease	Likely pathogenic; Pathogenic	rs104886460	RCV005625274

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs878853319, rs878853316, rs878853318	-
Acute myeloid leukemia	Benign; Likely benign	rs140335079	RCV005892063
Alpha thalassemia-X-linked intellectual disability syndrome	Conflicting classifications of pathogenicity	rs1376479747	RCV001808963
Cervical cancer	Benign; Likely benign	rs140335079	RCV005892066
Cogwheel rigidity	Conflicting classifications of pathogenicity; risk factor; Uncertain significance	rs2230288, rs149171124	RCV000414984 RCV000626624
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs138498426	RCV005898748
Colorectal cancer	Uncertain significance	rs757041827	RCV005933644
Familial cancer of breast	Benign; Likely benign	rs140335079	RCV005892062
Familial pancreatic carcinoma	Benign; Likely benign	rs140335079	RCV005892069
Gastric cancer	Benign; Likely benign	rs140335079	RCV005892071
Hepatoblastoma	Uncertain significance	rs149487315	RCV001843595
Lung cancer	Benign; Likely benign	rs140335079	RCV005892074
Lymphoma	Benign; Likely benign	rs140335079	RCV005892072
Malignant tumor of esophagus	Benign; Likely benign	rs140335079	RCV005892064
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs140335079	RCV005892065
Ovarian cancer	Benign; Likely benign	rs140335079	RCV005892067
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs140335079, rs757041827	RCV005892073 RCV005933645
Tremor	Conflicting classifications of pathogenicity; risk factor	rs2230288	RCV000414984
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs140335079	RCV005892075
Uveal melanoma	Benign; Likely benign	rs140335079	RCV005892068

GBA1 (glucosylceramidase beta 1)