GANAB (glucosidase II alpha subunit)

Gene

• Entrez ID: 23193
• Gene name: Glucosidase II alpha subunit
• Gene symbol: GANAB
• Synonyms (NCBI Gene): G2AN, GIIA, GIIalpha, GLUII, PKD3
• Chromosome: 11
• Chromosome location: 11q12.3
• Summary: This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glyc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs752158933	CT>-	Pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs760625230	G>A,C	Pathogenic	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs770519542	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs879255641	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs879255642	G>C	Pathogenic	Missense variant, coding sequence variant
rs879255643	G>A	Pathogenic	Missense variant, coding sequence variant
rs886037848	ATTACC>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1210158408	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1465649718	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1565088616	G>A	Pathogenic	Coding sequence variant, stop gained
rs1565092566	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1565092899	C>G	Pathogenic	Splice donor variant
rs1565093675	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1565099895	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1590789370	TTGGTCACT>-	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050974	hsa-miR-17-5p	CLASH	23622248
MIRT049013	hsa-miR-92a-3p	CLASH	23622248
MIRT048291	hsa-miR-107	CLASH	23622248
MIRT047360	hsa-miR-34a-5p	CLASH	23622248
MIRT047329	hsa-miR-181a-5p	CLASH	23622248
MIRT047273	hsa-miR-181b-5p	CLASH	23622248
MIRT046817	hsa-miR-222-3p	CLASH	23622248
MIRT046294	hsa-miR-23b-3p	CLASH	23622248
MIRT046015	hsa-miR-125b-5p	CLASH	23622248
MIRT043197	hsa-miR-324-5p	CLASH	23622248
MIRT043197	hsa-miR-324-5p	CLASH	23622248
MIRT041824	hsa-miR-484	CLASH	23622248
MIRT040196	hsa-miR-615-3p	CLASH	23622248
MIRT040196	hsa-miR-615-3p	CLASH	23622248
MIRT038734	hsa-miR-93-3p	CLASH	23622248
MIRT036101	hsa-miR-1296-5p	CLASH	23622248
MIRT052860	hsa-miR-3619-5p	CLASH	23622248
MIRT725504	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT725503	hsa-miR-497-3p	HITS-CLIP	19536157
MIRT725502	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT725500	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT725501	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT725499	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT440588	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT440588	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT727605	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT727604	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT727602	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT727603	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT725504	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT725503	hsa-miR-497-3p	HITS-CLIP	19536157
MIRT725502	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT725500	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT725501	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT725499	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT1011867	hsa-miR-1254	CLIP-seq
MIRT1011868	hsa-miR-136	CLIP-seq
MIRT1011869	hsa-miR-155	CLIP-seq
MIRT1011870	hsa-miR-302a	CLIP-seq
MIRT1011871	hsa-miR-302b	CLIP-seq
MIRT1011872	hsa-miR-302c	CLIP-seq
MIRT1011873	hsa-miR-302d	CLIP-seq
MIRT1011874	hsa-miR-302e	CLIP-seq
MIRT1011875	hsa-miR-3116	CLIP-seq
MIRT1011876	hsa-miR-3154	CLIP-seq
MIRT1011877	hsa-miR-3179	CLIP-seq
MIRT1011878	hsa-miR-3190	CLIP-seq
MIRT1011879	hsa-miR-3646	CLIP-seq
MIRT1011880	hsa-miR-371b-3p	CLIP-seq
MIRT1011881	hsa-miR-372	CLIP-seq
MIRT1011882	hsa-miR-373	CLIP-seq
MIRT1011883	hsa-miR-3911	CLIP-seq
MIRT1011884	hsa-miR-4254	CLIP-seq
MIRT1011885	hsa-miR-4261	CLIP-seq
MIRT1011886	hsa-miR-4727-5p	CLIP-seq
MIRT1011887	hsa-miR-4749-3p	CLIP-seq
MIRT1011888	hsa-miR-488	CLIP-seq
MIRT1011889	hsa-miR-519a	CLIP-seq
MIRT1011890	hsa-miR-519b-3p	CLIP-seq
MIRT1011891	hsa-miR-519c-3p	CLIP-seq
MIRT1011892	hsa-miR-520a-3p	CLIP-seq
MIRT1011893	hsa-miR-520b	CLIP-seq
MIRT1011894	hsa-miR-520c-3p	CLIP-seq
MIRT1011895	hsa-miR-520d-3p	CLIP-seq
MIRT1011896	hsa-miR-520e	CLIP-seq
MIRT1011897	hsa-miR-544	CLIP-seq
MIRT1011898	hsa-miR-765	CLIP-seq
MIRT1011899	hsa-let-7a	CLIP-seq
MIRT1011900	hsa-let-7b	CLIP-seq
MIRT1011901	hsa-let-7c	CLIP-seq
MIRT1011902	hsa-let-7d	CLIP-seq
MIRT1011903	hsa-let-7e	CLIP-seq
MIRT1011904	hsa-let-7f	CLIP-seq
MIRT1011905	hsa-let-7g	CLIP-seq
MIRT1011906	hsa-let-7i	CLIP-seq
MIRT1011907	hsa-miR-103a	CLIP-seq
MIRT1011908	hsa-miR-1233	CLIP-seq
MIRT1011909	hsa-miR-125a-3p	CLIP-seq
MIRT1011910	hsa-miR-1283	CLIP-seq
MIRT1011911	hsa-miR-1301	CLIP-seq
MIRT1011912	hsa-miR-1913	CLIP-seq
MIRT1011913	hsa-miR-2964a-3p	CLIP-seq
MIRT1011914	hsa-miR-300	CLIP-seq
MIRT1011915	hsa-miR-3125	CLIP-seq
MIRT1011916	hsa-miR-3126-5p	CLIP-seq
MIRT1011917	hsa-miR-3127-5p	CLIP-seq
MIRT1011918	hsa-miR-3132	CLIP-seq
MIRT1011919	hsa-miR-3153	CLIP-seq
MIRT1011920	hsa-miR-3175	CLIP-seq
MIRT1011877	hsa-miR-3179	CLIP-seq
MIRT1011921	hsa-miR-3202	CLIP-seq
MIRT1011922	hsa-miR-324-3p	CLIP-seq
MIRT1011923	hsa-miR-3689a-3p	CLIP-seq
MIRT1011924	hsa-miR-3689c	CLIP-seq
MIRT1011925	hsa-miR-381	CLIP-seq
MIRT1011926	hsa-miR-3908	CLIP-seq
MIRT1011927	hsa-miR-3916	CLIP-seq
MIRT1011928	hsa-miR-3918	CLIP-seq
MIRT1011929	hsa-miR-3927	CLIP-seq
MIRT1011930	hsa-miR-3942-5p	CLIP-seq
MIRT1011885	hsa-miR-4261	CLIP-seq
MIRT1011931	hsa-miR-4299	CLIP-seq
MIRT1011932	hsa-miR-4311	CLIP-seq
MIRT1011933	hsa-miR-4317	CLIP-seq
MIRT1011934	hsa-miR-4420	CLIP-seq
MIRT1011935	hsa-miR-4456	CLIP-seq
MIRT1011936	hsa-miR-4458	CLIP-seq
MIRT1011937	hsa-miR-4475	CLIP-seq
MIRT1011938	hsa-miR-4500	CLIP-seq
MIRT1011939	hsa-miR-4650-3p	CLIP-seq
MIRT1011940	hsa-miR-4660	CLIP-seq
MIRT1011941	hsa-miR-4668-5p	CLIP-seq
MIRT1011942	hsa-miR-4703-5p	CLIP-seq
MIRT1011943	hsa-miR-4712-3p	CLIP-seq
MIRT1011886	hsa-miR-4727-5p	CLIP-seq
MIRT1011944	hsa-miR-4728-5p	CLIP-seq
MIRT1011945	hsa-miR-4747-5p	CLIP-seq
MIRT1011887	hsa-miR-4749-3p	CLIP-seq
MIRT1011946	hsa-miR-4766-3p	CLIP-seq
MIRT1011947	hsa-miR-4790-3p	CLIP-seq
MIRT1011948	hsa-miR-5047	CLIP-seq
MIRT1011949	hsa-miR-541	CLIP-seq
MIRT1011950	hsa-miR-542-5p	CLIP-seq
MIRT1011897	hsa-miR-544	CLIP-seq
MIRT1011951	hsa-miR-548q	CLIP-seq
MIRT1011952	hsa-miR-552	CLIP-seq
MIRT1011953	hsa-miR-591	CLIP-seq
MIRT1011954	hsa-miR-624	CLIP-seq
MIRT1011955	hsa-miR-646	CLIP-seq
MIRT1011956	hsa-miR-654-5p	CLIP-seq
MIRT1011957	hsa-miR-98	CLIP-seq
MIRT1011868	hsa-miR-136	CLIP-seq
MIRT1999788	hsa-miR-1915	CLIP-seq
MIRT1011913	hsa-miR-2964a-3p	CLIP-seq
MIRT1011914	hsa-miR-300	CLIP-seq
MIRT1011915	hsa-miR-3125	CLIP-seq
MIRT1011916	hsa-miR-3126-5p	CLIP-seq
MIRT1011878	hsa-miR-3190	CLIP-seq
MIRT1999789	hsa-miR-326	CLIP-seq
MIRT1999790	hsa-miR-330-5p	CLIP-seq
MIRT1011925	hsa-miR-381	CLIP-seq
MIRT1011883	hsa-miR-3911	CLIP-seq
MIRT1011927	hsa-miR-3916	CLIP-seq
MIRT1011885	hsa-miR-4261	CLIP-seq
MIRT1999791	hsa-miR-4522	CLIP-seq
MIRT1999792	hsa-miR-4642	CLIP-seq
MIRT1011939	hsa-miR-4650-3p	CLIP-seq
MIRT1999793	hsa-miR-4667-5p	CLIP-seq
MIRT1999794	hsa-miR-4700-5p	CLIP-seq
MIRT1011886	hsa-miR-4727-5p	CLIP-seq
MIRT1999795	hsa-miR-4778-3p	CLIP-seq
MIRT1011947	hsa-miR-4790-3p	CLIP-seq
MIRT1999796	hsa-miR-4793-5p	CLIP-seq
MIRT1999797	hsa-miR-4795-5p	CLIP-seq
MIRT1011897	hsa-miR-544	CLIP-seq
MIRT1999798	hsa-miR-597	CLIP-seq
MIRT1999799	hsa-miR-637	CLIP-seq
MIRT1999800	hsa-miR-640	CLIP-seq
MIRT1011907	hsa-miR-103a	CLIP-seq
MIRT1011910	hsa-miR-1283	CLIP-seq
MIRT2233222	hsa-miR-1293	CLIP-seq
MIRT1011911	hsa-miR-1301	CLIP-seq
MIRT1999788	hsa-miR-1915	CLIP-seq
MIRT2233223	hsa-miR-199a-5p	CLIP-seq
MIRT2233224	hsa-miR-199b-5p	CLIP-seq
MIRT1011913	hsa-miR-2964a-3p	CLIP-seq
MIRT1011915	hsa-miR-3125	CLIP-seq
MIRT1011920	hsa-miR-3175	CLIP-seq
MIRT2233225	hsa-miR-323-5p	CLIP-seq
MIRT1011927	hsa-miR-3916	CLIP-seq
MIRT2233226	hsa-miR-3936	CLIP-seq
MIRT2233227	hsa-miR-4281	CLIP-seq
MIRT2233228	hsa-miR-4483	CLIP-seq
MIRT2233229	hsa-miR-4651	CLIP-seq
MIRT1011940	hsa-miR-4660	CLIP-seq
MIRT1999796	hsa-miR-4793-5p	CLIP-seq
MIRT1011948	hsa-miR-5047	CLIP-seq
MIRT1011950	hsa-miR-542-5p	CLIP-seq
MIRT2233230	hsa-miR-555	CLIP-seq
MIRT2233231	hsa-miR-608	CLIP-seq
MIRT1011954	hsa-miR-624	CLIP-seq
MIRT1011955	hsa-miR-646	CLIP-seq
MIRT1011868	hsa-miR-136	CLIP-seq
MIRT1011870	hsa-miR-302a	CLIP-seq
MIRT1011871	hsa-miR-302b	CLIP-seq
MIRT1011872	hsa-miR-302c	CLIP-seq
MIRT1011873	hsa-miR-302d	CLIP-seq
MIRT1011874	hsa-miR-302e	CLIP-seq
MIRT1011881	hsa-miR-372	CLIP-seq
MIRT1011882	hsa-miR-373	CLIP-seq
MIRT1011889	hsa-miR-519a	CLIP-seq
MIRT1011890	hsa-miR-519b-3p	CLIP-seq
MIRT1011891	hsa-miR-519c-3p	CLIP-seq
MIRT1011892	hsa-miR-520a-3p	CLIP-seq
MIRT1011893	hsa-miR-520b	CLIP-seq
MIRT1011894	hsa-miR-520c-3p	CLIP-seq
MIRT1011895	hsa-miR-520d-3p	CLIP-seq
MIRT1011896	hsa-miR-520e	CLIP-seq
MIRT1011915	hsa-miR-3125	CLIP-seq
MIRT1011927	hsa-miR-3916	CLIP-seq
MIRT1011939	hsa-miR-4650-3p	CLIP-seq
MIRT1011887	hsa-miR-4749-3p	CLIP-seq
MIRT1011899	hsa-let-7a	CLIP-seq
MIRT1011900	hsa-let-7b	CLIP-seq
MIRT1011901	hsa-let-7c	CLIP-seq
MIRT1011902	hsa-let-7d	CLIP-seq
MIRT1011903	hsa-let-7e	CLIP-seq
MIRT1011904	hsa-let-7f	CLIP-seq
MIRT1011905	hsa-let-7g	CLIP-seq
MIRT1011906	hsa-let-7i	CLIP-seq
MIRT1011907	hsa-miR-103a	CLIP-seq
MIRT2537015	hsa-miR-1207-3p	CLIP-seq
MIRT2537016	hsa-miR-122	CLIP-seq
MIRT2537017	hsa-miR-1257	CLIP-seq
MIRT2537018	hsa-miR-1265	CLIP-seq
MIRT2537019	hsa-miR-1273	CLIP-seq
MIRT2537020	hsa-miR-1273g	CLIP-seq
MIRT2537021	hsa-miR-1275	CLIP-seq
MIRT1011910	hsa-miR-1283	CLIP-seq
MIRT2537022	hsa-miR-1292	CLIP-seq
MIRT2233222	hsa-miR-1293	CLIP-seq
MIRT1011911	hsa-miR-1301	CLIP-seq
MIRT2537023	hsa-miR-1343	CLIP-seq
MIRT1011868	hsa-miR-136	CLIP-seq
MIRT2537024	hsa-miR-145	CLIP-seq
MIRT1011869	hsa-miR-155	CLIP-seq
MIRT1011912	hsa-miR-1913	CLIP-seq
MIRT2233223	hsa-miR-199a-5p	CLIP-seq
MIRT2233224	hsa-miR-199b-5p	CLIP-seq
MIRT2537025	hsa-miR-2116	CLIP-seq
MIRT2537026	hsa-miR-2278	CLIP-seq
MIRT1011913	hsa-miR-2964a-3p	CLIP-seq
MIRT1011870	hsa-miR-302a	CLIP-seq
MIRT1011871	hsa-miR-302b	CLIP-seq
MIRT1011872	hsa-miR-302c	CLIP-seq
MIRT1011873	hsa-miR-302d	CLIP-seq
MIRT1011874	hsa-miR-302e	CLIP-seq
MIRT2537027	hsa-miR-3121-5p	CLIP-seq
MIRT1011915	hsa-miR-3125	CLIP-seq
MIRT1011916	hsa-miR-3126-5p	CLIP-seq
MIRT1011918	hsa-miR-3132	CLIP-seq
MIRT2537028	hsa-miR-3147	CLIP-seq
MIRT1011919	hsa-miR-3153	CLIP-seq
MIRT1011876	hsa-miR-3154	CLIP-seq
MIRT1011920	hsa-miR-3175	CLIP-seq
MIRT1011877	hsa-miR-3179	CLIP-seq
MIRT1011878	hsa-miR-3190	CLIP-seq
MIRT2233225	hsa-miR-323-5p	CLIP-seq
MIRT1011922	hsa-miR-324-3p	CLIP-seq
MIRT1011880	hsa-miR-371b-3p	CLIP-seq
MIRT1011881	hsa-miR-372	CLIP-seq
MIRT1011882	hsa-miR-373	CLIP-seq
MIRT1011883	hsa-miR-3911	CLIP-seq
MIRT1011927	hsa-miR-3916	CLIP-seq
MIRT2537029	hsa-miR-3925-3p	CLIP-seq
MIRT1011929	hsa-miR-3927	CLIP-seq
MIRT2233226	hsa-miR-3936	CLIP-seq
MIRT2537030	hsa-miR-3938	CLIP-seq
MIRT1011885	hsa-miR-4261	CLIP-seq
MIRT2233227	hsa-miR-4281	CLIP-seq
MIRT2537031	hsa-miR-4421	CLIP-seq
MIRT2537032	hsa-miR-4425	CLIP-seq
MIRT1011936	hsa-miR-4458	CLIP-seq
MIRT2537033	hsa-miR-4471	CLIP-seq
MIRT2233228	hsa-miR-4483	CLIP-seq
MIRT1011938	hsa-miR-4500	CLIP-seq
MIRT2537034	hsa-miR-4525	CLIP-seq
MIRT2537035	hsa-miR-4646-5p	CLIP-seq
MIRT1011939	hsa-miR-4650-3p	CLIP-seq
MIRT2233229	hsa-miR-4651	CLIP-seq
MIRT1011940	hsa-miR-4660	CLIP-seq
MIRT2537036	hsa-miR-4665-5p	CLIP-seq
MIRT1011941	hsa-miR-4668-5p	CLIP-seq
MIRT2537037	hsa-miR-4677-5p	CLIP-seq
MIRT2537038	hsa-miR-4694-5p	CLIP-seq
MIRT1011943	hsa-miR-4712-3p	CLIP-seq
MIRT2537039	hsa-miR-4719	CLIP-seq
MIRT2537040	hsa-miR-4723-5p	CLIP-seq
MIRT1011886	hsa-miR-4727-5p	CLIP-seq
MIRT1011887	hsa-miR-4749-3p	CLIP-seq
MIRT1011946	hsa-miR-4766-3p	CLIP-seq
MIRT2537041	hsa-miR-4781-3p	CLIP-seq
MIRT1999796	hsa-miR-4793-5p	CLIP-seq
MIRT2537042	hsa-miR-483-3p	CLIP-seq
MIRT1011948	hsa-miR-5047	CLIP-seq
MIRT1011889	hsa-miR-519a	CLIP-seq
MIRT1011890	hsa-miR-519b-3p	CLIP-seq
MIRT1011891	hsa-miR-519c-3p	CLIP-seq
MIRT1011892	hsa-miR-520a-3p	CLIP-seq
MIRT1011893	hsa-miR-520b	CLIP-seq
MIRT1011894	hsa-miR-520c-3p	CLIP-seq
MIRT1011895	hsa-miR-520d-3p	CLIP-seq
MIRT1011896	hsa-miR-520e	CLIP-seq
MIRT1011950	hsa-miR-542-5p	CLIP-seq
MIRT1011897	hsa-miR-544	CLIP-seq
MIRT2233230	hsa-miR-555	CLIP-seq
MIRT2537043	hsa-miR-571	CLIP-seq
MIRT2233231	hsa-miR-608	CLIP-seq
MIRT1011954	hsa-miR-624	CLIP-seq
MIRT2537044	hsa-miR-625	CLIP-seq
MIRT1999800	hsa-miR-640	CLIP-seq
MIRT1011955	hsa-miR-646	CLIP-seq
MIRT1011957	hsa-miR-98	CLIP-seq
MIRT1011899	hsa-let-7a	CLIP-seq
MIRT1011900	hsa-let-7b	CLIP-seq
MIRT1011901	hsa-let-7c	CLIP-seq
MIRT1011902	hsa-let-7d	CLIP-seq
MIRT1011903	hsa-let-7e	CLIP-seq
MIRT1011904	hsa-let-7f	CLIP-seq
MIRT1011905	hsa-let-7g	CLIP-seq
MIRT1011906	hsa-let-7i	CLIP-seq
MIRT1011907	hsa-miR-103a	CLIP-seq
MIRT2537015	hsa-miR-1207-3p	CLIP-seq
MIRT2537018	hsa-miR-1265	CLIP-seq
MIRT1011910	hsa-miR-1283	CLIP-seq
MIRT2537022	hsa-miR-1292	CLIP-seq
MIRT2233222	hsa-miR-1293	CLIP-seq
MIRT1011911	hsa-miR-1301	CLIP-seq
MIRT1011868	hsa-miR-136	CLIP-seq
MIRT2537024	hsa-miR-145	CLIP-seq
MIRT1011869	hsa-miR-155	CLIP-seq
MIRT1011912	hsa-miR-1913	CLIP-seq
MIRT2233223	hsa-miR-199a-5p	CLIP-seq
MIRT2233224	hsa-miR-199b-5p	CLIP-seq
MIRT2537025	hsa-miR-2116	CLIP-seq
MIRT2537026	hsa-miR-2278	CLIP-seq
MIRT1011913	hsa-miR-2964a-3p	CLIP-seq
MIRT1011870	hsa-miR-302a	CLIP-seq
MIRT1011871	hsa-miR-302b	CLIP-seq
MIRT1011872	hsa-miR-302c	CLIP-seq
MIRT1011873	hsa-miR-302d	CLIP-seq
MIRT1011874	hsa-miR-302e	CLIP-seq
MIRT2537027	hsa-miR-3121-5p	CLIP-seq
MIRT1011915	hsa-miR-3125	CLIP-seq
MIRT1011916	hsa-miR-3126-5p	CLIP-seq
MIRT1011918	hsa-miR-3132	CLIP-seq
MIRT1011876	hsa-miR-3154	CLIP-seq
MIRT1011920	hsa-miR-3175	CLIP-seq
MIRT1011877	hsa-miR-3179	CLIP-seq
MIRT1011878	hsa-miR-3190	CLIP-seq
MIRT2233225	hsa-miR-323-5p	CLIP-seq
MIRT1011922	hsa-miR-324-3p	CLIP-seq
MIRT1011880	hsa-miR-371b-3p	CLIP-seq
MIRT1011881	hsa-miR-372	CLIP-seq
MIRT1011882	hsa-miR-373	CLIP-seq
MIRT1011883	hsa-miR-3911	CLIP-seq
MIRT1011927	hsa-miR-3916	CLIP-seq
MIRT2537029	hsa-miR-3925-3p	CLIP-seq
MIRT1011929	hsa-miR-3927	CLIP-seq
MIRT2233226	hsa-miR-3936	CLIP-seq
MIRT2537030	hsa-miR-3938	CLIP-seq
MIRT1011885	hsa-miR-4261	CLIP-seq
MIRT2233227	hsa-miR-4281	CLIP-seq
MIRT2537031	hsa-miR-4421	CLIP-seq
MIRT1011936	hsa-miR-4458	CLIP-seq
MIRT2537033	hsa-miR-4471	CLIP-seq
MIRT2233228	hsa-miR-4483	CLIP-seq
MIRT1011938	hsa-miR-4500	CLIP-seq
MIRT2681462	hsa-miR-4540	CLIP-seq
MIRT2537035	hsa-miR-4646-5p	CLIP-seq
MIRT1011939	hsa-miR-4650-3p	CLIP-seq
MIRT2233229	hsa-miR-4651	CLIP-seq
MIRT1011940	hsa-miR-4660	CLIP-seq
MIRT1011941	hsa-miR-4668-5p	CLIP-seq
MIRT2537037	hsa-miR-4677-5p	CLIP-seq
MIRT1011943	hsa-miR-4712-3p	CLIP-seq
MIRT2537039	hsa-miR-4719	CLIP-seq
MIRT1011886	hsa-miR-4727-5p	CLIP-seq
MIRT1011887	hsa-miR-4749-3p	CLIP-seq
MIRT1011946	hsa-miR-4766-3p	CLIP-seq
MIRT1999796	hsa-miR-4793-5p	CLIP-seq
MIRT2537042	hsa-miR-483-3p	CLIP-seq
MIRT1011948	hsa-miR-5047	CLIP-seq
MIRT1011889	hsa-miR-519a	CLIP-seq
MIRT1011890	hsa-miR-519b-3p	CLIP-seq
MIRT1011891	hsa-miR-519c-3p	CLIP-seq
MIRT1011892	hsa-miR-520a-3p	CLIP-seq
MIRT1011893	hsa-miR-520b	CLIP-seq
MIRT1011894	hsa-miR-520c-3p	CLIP-seq
MIRT1011895	hsa-miR-520d-3p	CLIP-seq
MIRT1011896	hsa-miR-520e	CLIP-seq
MIRT1011950	hsa-miR-542-5p	CLIP-seq
MIRT1011897	hsa-miR-544	CLIP-seq
MIRT2233230	hsa-miR-555	CLIP-seq
MIRT2233231	hsa-miR-608	CLIP-seq
MIRT1011954	hsa-miR-624	CLIP-seq
MIRT1999800	hsa-miR-640	CLIP-seq
MIRT1011955	hsa-miR-646	CLIP-seq
MIRT1011957	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003824	Function	Catalytic activity	IEA
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0005515	Function	Protein binding	IPI	10929008
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	NAS	10929008
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006491	Process	N-glycan processing	IBA
GO:0006491	Process	N-glycan processing	IDA	10929008
GO:0006491	Process	N-glycan processing	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0017177	Component	Glucosidase II complex	IBA
GO:0017177	Component	Glucosidase II complex	IDA	10929008
GO:0017177	Component	Glucosidase II complex	IEA
GO:0017177	Component	Glucosidase II complex	IPI	10929008
GO:0030246	Function	Carbohydrate binding	IEA
GO:0033919	Function	Glucan 1,3-alpha-glucosidase activity	IBA
GO:0033919	Function	Glucan 1,3-alpha-glucosidase activity	IDA	10929008
GO:0033919	Function	Glucan 1,3-alpha-glucosidase activity	IEA
GO:0042470	Component	Melanosome	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IMP	10929008
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0090599	Function	Alpha-glucosidase activity	IDA	28375157
GO:0106407	Function	Glc2Man9GlcNAc2 oligosaccharide glucosidase activity	IDA	10929008
GO:0106407	Function	Glc2Man9GlcNAc2 oligosaccharide glucosidase activity	IEA

Other IDs

• MIM: 104160
• HGNC: 4138
• e!Ensembl: ENSG00000089597

Protein

• UniProt ID: Q14697
• Protein name: Neutral alpha-glucosidase AB (EC 3.2.1.207) (Alpha-glucosidase 2) (Glucosidase II subunit alpha)
• Protein function: Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1
• PDB: 8D43, 8EMR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13802	Gal_mutarotas_2	253 → 324	Galactose mutarotase-like	Domain
  PF01055	Glyco_hydro_31	365 → 810	Glycosyl hydrolases family 31	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta (PubMed:3881423). Isoform 1 and isoform 2 are expressed in the kidney and liver (PubMed:27259053). {ECO:0000269|PubMed:27259053, ECO:0000269|PubMed:3881423}.
• Sequence:

  MAAVAAVAARRRRSWASLVLAFLGVCLGITLAVDRSNFKTCEESSFCKRQRSIRPGLSPY
  RALLDSLQLGPDSLTVHLIHEVTKVLLVLELQGLQKNMTRFRIDELEPRRPRYRVPDVLV
  ADPPIARLSVSGRDENSVELTMAEGPYKIILTARPFRLDLLEDRSLLLSVNARGLLEFEH
  QRAPRVSQGSKDPAEGDGAQPEETPRDGDKPEETQGKAEKDEPGAWEETFKTHSDSKPYG
  PMSVGLDFSLPGMEHVYGIPEHADNLRLKVTEGGEPYRLYNLDVFQYELYNPMALYGSVP
  VLLAHNPHRDLGIFWLNAAETWVDISSNTAGKTLFGKMMDYLQGSGETPQTDVRWMSETG
  IIDVFLLLGPSISDVFRQYASLTGTQALPPLFSLGYHQSRWNYRDEADVLEVDQGFDDHN
  LPCDVIWLDIEHADGKRYFTWDPSRFPQPRTMLERLASKRRKLVAIVDPHIKVDSGYRVH
  EELRNLGLYVKTRDGSDYEGWCWPGSAGYPDFTNPTMRAWWANMFSYDNYEGSAPNLFVW
  NDMNEPSVFNGPEVTMLKDAQHYGGWEHRDVHNIYGLYVHMATADGLRQRSGGMERPFVL
  ARAFFAGSQRFGAVWTGDNTAEWDHLKISIPMCLSLGLVGLSFCGADVGGFFKNPEPELL
  VRWYQMGAYQPFFRAHAHLDTGRREPWLLPSQHNDIIRDALGQRYSLLPFWYTLLYQAHR
  EGIPVMRPLWVQYPQDVTTFNIDDQYLLGDALLVHPVSDSGAHGVQVYLPGQGEVWYDIQ
  SYQKHHGPQTLYLPVTLSSIPVFQRGGTIVPRWMRVRRSSECMKDDPITLFVALSPQGTA
  QGELFLDDGHTFNYQTRQEFLLRRFSFSGNTLVSSSADPEGHFETPIWIERVVIIGAGKP
  AAVVLQTKGSPESRLSFQHDPETSVLVLRKPGINVASDWSIHLR

• Sequence length: 944

Pathways

KEGG:

N-Glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum

Reactome:

N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Calnexin/calreticulin cycle

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant polycystic kidney disease	Pathogenic	rs750723025	RCV000758152	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant polycystic liver disease	Pathogenic; Likely pathogenic	rs1210158408, rs1565088616, rs1565092566, rs1565092899, rs1565093675, rs1465649718, rs1565099895, rs1565116806	RCV000758157 RCV000758156 RCV000758159 RCV000758155 RCV000758158 RCV000758154 RCV000758153 RCV000758162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Biliary tract abnormality	Pathogenic; Likely pathogenic	rs1210158408, rs1565088616	RCV005622017 RCV005626185	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GANAB-related disorder	Likely pathogenic; Pathogenic	rs752158933, rs2496332587	RCV003920006 RCV003964499	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease 3 with or without polycystic liver disease	Likely pathogenic; Pathogenic	rs754785664, rs1943838983, rs2496291378, rs2496333718, rs2496294228, rs879255641, rs879255643, rs752158933, rs1394696665, rs1943774392, rs768502347, rs2496320129, rs2539052796, rs2496336176, rs2539030948, rs2496332664, rs1210158408, rs1565088616, rs1565093675	RCV002503278 RCV002254413 RCV002293275 RCV002466830 RCV003145793 RCV000239562 RCV002500841 RCV002479954 RCV003233407 RCV003319947 RCV003319949 RCV003493326 RCV003992063 RCV004556935 RCV004556942 RCV004595170 RCV003319415 RCV005049672 RCV005411554	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE	Pathogenic; Likely pathogenic	rs886037848, rs879255643, rs752158933, rs1590789370	RCV000239507 RCV000239561 RCV000239461 RCV000584790	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE	Pathogenic	rs879255642	RCV000239474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal cyst	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	35766008	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant polycystic kidney disease	Polycystic kidney disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	31037987	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16139532		★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	27259053	Associate	★☆☆☆☆ Found in Text Mining only
Isolated polycystic liver disease	Polycystic liver disease	BEFREE	29243290		★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	36573973	Associate	★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19218359		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	27259053, 28522688, 30333007, 33097077, 36833371, 38537868	Associate	★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	Polycystic Kidney Disease With Or Without Polycystic Liver Disease	UNIPROT_DG	27259053		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	Polycystic Kidney Disease With Or Without Polycystic Liver Disease	GENOMICS_ENGLAND_DG	28862642		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	Polycystic Kidney Disease With Or Without Polycystic Liver Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE	Polycystic Kidney Disease With Polycystic Liver Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE	Polycystic Kidney Disease Without Polycystic Liver Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease, type 2	Polycystic kidney disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	33097077	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	27259053, 29600752, 30333007, 30792735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	ORPHANET_DG	27259053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Type 1 Autosomal Dominant Disease	Polycystic kidney disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	BEFREE	15188177, 29243290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	Pubtator	27259053, 29243290, 30135240, 33097077	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	37376599	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32306508	Associate	★☆☆☆☆ Found in Text Mining only