GM2A (ganglioside GM2 activator)

Gene

• Entrez ID: 2760
• Gene name: Ganglioside GM2 activator
• Gene symbol: GM2A
• Synonyms (NCBI Gene): GM2-AP, GM2AP, SAP-3
• Chromosome: 5
• Chromosome location: 5q33.1
• Summary: This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the gangliosid

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893892	G>A,C,T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs104893897	G>T	Pathogenic	Coding sequence variant, stop gained
rs137852797	T>C	Pathogenic	Coding sequence variant, missense variant
rs587779405	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs730882196	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057519021	G>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1057519022	A>T	Likely-pathogenic	Splice acceptor variant
rs1174735558	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT710373	hsa-miR-1306-5p	HITS-CLIP	19536157
MIRT710372	hsa-miR-1224-3p	HITS-CLIP	19536157
MIRT710371	hsa-miR-205-5p	HITS-CLIP	19536157
MIRT710370	hsa-miR-578	HITS-CLIP	19536157
MIRT476321	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT476322	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT476320	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT476319	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT476318	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT476317	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT476316	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT476315	hsa-miR-4459	PAR-CLIP	23592263
MIRT476314	hsa-miR-665	PAR-CLIP	23592263
MIRT476313	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT476312	hsa-miR-5186	PAR-CLIP	23592263
MIRT476311	hsa-miR-6087	PAR-CLIP	23592263
MIRT476310	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT476309	hsa-miR-6134	PAR-CLIP	23592263
MIRT476308	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT476307	hsa-miR-6086	PAR-CLIP	23592263
MIRT476306	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT476305	hsa-miR-658	PAR-CLIP	23592263
MIRT476304	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT476303	hsa-miR-1294	PAR-CLIP	23592263
MIRT476302	hsa-miR-500a-3p	PAR-CLIP	23592263
MIRT476301	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT476300	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT446322	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT446321	hsa-miR-4635	PAR-CLIP	22100165
MIRT446320	hsa-miR-889-3p	PAR-CLIP	22100165
MIRT446319	hsa-miR-33a-5p	PAR-CLIP	22100165
MIRT446318	hsa-miR-33b-5p	PAR-CLIP	22100165
MIRT446317	hsa-miR-450b-5p	PAR-CLIP	22100165
MIRT446316	hsa-miR-507	PAR-CLIP	22100165
MIRT446315	hsa-miR-557	PAR-CLIP	22100165
MIRT446314	hsa-miR-3680-3p	PAR-CLIP	22100165
MIRT446313	hsa-miR-129-5p	PAR-CLIP	22100165
MIRT710373	hsa-miR-1306-5p	HITS-CLIP	19536157
MIRT710372	hsa-miR-1224-3p	HITS-CLIP	19536157
MIRT710371	hsa-miR-205-5p	HITS-CLIP	19536157
MIRT710370	hsa-miR-578	HITS-CLIP	19536157
MIRT476321	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT476322	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT476320	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT476319	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT476318	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT476317	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT476316	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT476315	hsa-miR-4459	PAR-CLIP	23592263
MIRT476314	hsa-miR-665	PAR-CLIP	23592263
MIRT476313	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT476312	hsa-miR-5186	PAR-CLIP	23592263
MIRT476311	hsa-miR-6087	PAR-CLIP	23592263
MIRT476310	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT476309	hsa-miR-6134	PAR-CLIP	23592263
MIRT476308	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT476307	hsa-miR-6086	PAR-CLIP	23592263
MIRT476306	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT476305	hsa-miR-658	PAR-CLIP	23592263
MIRT476304	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT476303	hsa-miR-1294	PAR-CLIP	23592263
MIRT476302	hsa-miR-500a-3p	PAR-CLIP	23592263
MIRT476301	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT476300	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT446322	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT446321	hsa-miR-4635	PAR-CLIP	22100165
MIRT446320	hsa-miR-889-3p	PAR-CLIP	22100165
MIRT446319	hsa-miR-33a-5p	PAR-CLIP	22100165
MIRT446318	hsa-miR-33b-5p	PAR-CLIP	22100165
MIRT446317	hsa-miR-450b-5p	PAR-CLIP	22100165
MIRT446316	hsa-miR-507	PAR-CLIP	22100165
MIRT446315	hsa-miR-557	PAR-CLIP	22100165
MIRT446314	hsa-miR-3680-3p	PAR-CLIP	22100165
MIRT446313	hsa-miR-129-5p	PAR-CLIP	22100165
MIRT1022327	hsa-miR-1302	CLIP-seq
MIRT1022328	hsa-miR-138	CLIP-seq
MIRT1022329	hsa-miR-192	CLIP-seq
MIRT1022330	hsa-miR-215	CLIP-seq
MIRT1022331	hsa-miR-2355-3p	CLIP-seq
MIRT1022332	hsa-miR-2467-5p	CLIP-seq
MIRT1022333	hsa-miR-25	CLIP-seq
MIRT1022334	hsa-miR-3064-3p	CLIP-seq
MIRT1022335	hsa-miR-3122	CLIP-seq
MIRT1022336	hsa-miR-3124-3p	CLIP-seq
MIRT1022337	hsa-miR-3130-3p	CLIP-seq
MIRT1022338	hsa-miR-3138	CLIP-seq
MIRT1022339	hsa-miR-3162-3p	CLIP-seq
MIRT1022340	hsa-miR-3188	CLIP-seq
MIRT1022341	hsa-miR-3189-3p	CLIP-seq
MIRT1022342	hsa-miR-32	CLIP-seq
MIRT1022343	hsa-miR-329	CLIP-seq
MIRT1022344	hsa-miR-335	CLIP-seq
MIRT1022345	hsa-miR-3609	CLIP-seq
MIRT1022346	hsa-miR-362-3p	CLIP-seq
MIRT1022347	hsa-miR-363	CLIP-seq
MIRT1022348	hsa-miR-3649	CLIP-seq
MIRT1022349	hsa-miR-3661	CLIP-seq
MIRT1022350	hsa-miR-367	CLIP-seq
MIRT1022351	hsa-miR-3687	CLIP-seq
MIRT1022352	hsa-miR-3910	CLIP-seq
MIRT1022353	hsa-miR-3913-5p	CLIP-seq
MIRT1022354	hsa-miR-3975	CLIP-seq
MIRT1022355	hsa-miR-4298	CLIP-seq
MIRT1022356	hsa-miR-4299	CLIP-seq
MIRT1022357	hsa-miR-4312	CLIP-seq
MIRT1022358	hsa-miR-4316	CLIP-seq
MIRT1022359	hsa-miR-4442	CLIP-seq
MIRT1022360	hsa-miR-4504	CLIP-seq
MIRT1022361	hsa-miR-4520a-3p	CLIP-seq
MIRT1022362	hsa-miR-4699-5p	CLIP-seq
MIRT1022363	hsa-miR-4709-3p	CLIP-seq
MIRT1022364	hsa-miR-4710	CLIP-seq
MIRT1022365	hsa-miR-4715-3p	CLIP-seq
MIRT1022366	hsa-miR-4761-5p	CLIP-seq
MIRT1022367	hsa-miR-4762-5p	CLIP-seq
MIRT1022368	hsa-miR-4792	CLIP-seq
MIRT1022369	hsa-miR-4793-3p	CLIP-seq
MIRT1022370	hsa-miR-485-5p	CLIP-seq
MIRT1022371	hsa-miR-502-5p	CLIP-seq
MIRT1022372	hsa-miR-511	CLIP-seq
MIRT1022373	hsa-miR-520g	CLIP-seq
MIRT1022374	hsa-miR-520h	CLIP-seq
MIRT1022375	hsa-miR-548ah	CLIP-seq
MIRT1022376	hsa-miR-631	CLIP-seq
MIRT1022377	hsa-miR-646	CLIP-seq
MIRT1022378	hsa-miR-676	CLIP-seq
MIRT1022379	hsa-miR-766	CLIP-seq
MIRT1022380	hsa-miR-767-5p	CLIP-seq
MIRT1022381	hsa-miR-92a	CLIP-seq
MIRT1022382	hsa-miR-92b	CLIP-seq
MIRT1022383	hsa-miR-944	CLIP-seq
MIRT1022384	hsa-miR-1254	CLIP-seq
MIRT1022385	hsa-miR-1273e	CLIP-seq
MIRT1022386	hsa-miR-145	CLIP-seq
MIRT1022387	hsa-miR-146b-3p	CLIP-seq
MIRT1022388	hsa-miR-24	CLIP-seq
MIRT1022389	hsa-miR-27a	CLIP-seq
MIRT1022390	hsa-miR-27b	CLIP-seq
MIRT1022391	hsa-miR-2964a-3p	CLIP-seq
MIRT1022392	hsa-miR-302f	CLIP-seq
MIRT1022393	hsa-miR-3116	CLIP-seq
MIRT1022394	hsa-miR-3173-5p	CLIP-seq
MIRT1022395	hsa-miR-3180-5p	CLIP-seq
MIRT1022396	hsa-miR-378g	CLIP-seq
MIRT1022397	hsa-miR-412	CLIP-seq
MIRT1022398	hsa-miR-4284	CLIP-seq
MIRT1022399	hsa-miR-4292	CLIP-seq
MIRT1022400	hsa-miR-4463	CLIP-seq
MIRT1022401	hsa-miR-4494	CLIP-seq
MIRT1022402	hsa-miR-4530	CLIP-seq
MIRT1022403	hsa-miR-4715-5p	CLIP-seq
MIRT1022404	hsa-miR-4794	CLIP-seq
MIRT1022372	hsa-miR-511	CLIP-seq
MIRT1022405	hsa-miR-513a-5p	CLIP-seq
MIRT1022406	hsa-miR-515-5p	CLIP-seq
MIRT1022407	hsa-miR-671-5p	CLIP-seq
MIRT1022408	hsa-miR-874	CLIP-seq
MIRT1022409	hsa-miR-892b	CLIP-seq
MIRT1022410	hsa-miR-922	CLIP-seq
MIRT1022385	hsa-miR-1273e	CLIP-seq
MIRT1549292	hsa-miR-1827	CLIP-seq
MIRT1022391	hsa-miR-2964a-3p	CLIP-seq
MIRT1022392	hsa-miR-302f	CLIP-seq
MIRT1549293	hsa-miR-3929	CLIP-seq
MIRT1549294	hsa-miR-4419b	CLIP-seq
MIRT1549295	hsa-miR-4478	CLIP-seq
MIRT1549296	hsa-miR-4649-3p	CLIP-seq
MIRT1549297	hsa-miR-4722-5p	CLIP-seq
MIRT1549298	hsa-miR-4768-3p	CLIP-seq
MIRT1022370	hsa-miR-485-5p	CLIP-seq
MIRT1549299	hsa-miR-940	CLIP-seq
MIRT2002944	hsa-miR-1225-3p	CLIP-seq
MIRT2002945	hsa-miR-1233	CLIP-seq
MIRT2002946	hsa-miR-499-3p	CLIP-seq
MIRT2002947	hsa-miR-499a-3p	CLIP-seq
MIRT1022406	hsa-miR-515-5p	CLIP-seq
MIRT2002948	hsa-miR-642b	CLIP-seq
MIRT1022379	hsa-miR-766	CLIP-seq
MIRT1022385	hsa-miR-1273e	CLIP-seq
MIRT1549292	hsa-miR-1827	CLIP-seq
MIRT1022391	hsa-miR-2964a-3p	CLIP-seq
MIRT1022392	hsa-miR-302f	CLIP-seq
MIRT2002949	hsa-miR-3689a-3p	CLIP-seq
MIRT2002950	hsa-miR-3689c	CLIP-seq
MIRT1549293	hsa-miR-3929	CLIP-seq
MIRT1549294	hsa-miR-4419b	CLIP-seq
MIRT1549295	hsa-miR-4478	CLIP-seq
MIRT1549296	hsa-miR-4649-3p	CLIP-seq
MIRT1549297	hsa-miR-4722-5p	CLIP-seq
MIRT2002951	hsa-miR-4728-5p	CLIP-seq
MIRT1022367	hsa-miR-4762-5p	CLIP-seq
MIRT1549298	hsa-miR-4768-3p	CLIP-seq
MIRT2002952	hsa-miR-4782-5p	CLIP-seq
MIRT1022370	hsa-miR-485-5p	CLIP-seq
MIRT2002953	hsa-miR-890	CLIP-seq
MIRT1549299	hsa-miR-940	CLIP-seq
MIRT1022379	hsa-miR-766	CLIP-seq
MIRT1022385	hsa-miR-1273e	CLIP-seq
MIRT2235991	hsa-miR-1291	CLIP-seq
MIRT1022327	hsa-miR-1302	CLIP-seq
MIRT1549292	hsa-miR-1827	CLIP-seq
MIRT2235992	hsa-miR-194	CLIP-seq
MIRT2235993	hsa-miR-205	CLIP-seq
MIRT1022333	hsa-miR-25	CLIP-seq
MIRT1022391	hsa-miR-2964a-3p	CLIP-seq
MIRT1022392	hsa-miR-302f	CLIP-seq
MIRT2235994	hsa-miR-30a	CLIP-seq
MIRT2235995	hsa-miR-30b	CLIP-seq
MIRT2235996	hsa-miR-30c	CLIP-seq
MIRT2235997	hsa-miR-30d	CLIP-seq
MIRT2235998	hsa-miR-30e	CLIP-seq
MIRT1022335	hsa-miR-3122	CLIP-seq
MIRT2235999	hsa-miR-3127-3p	CLIP-seq
MIRT1022394	hsa-miR-3173-5p	CLIP-seq
MIRT1022342	hsa-miR-32	CLIP-seq
MIRT2236000	hsa-miR-3621	CLIP-seq
MIRT1022347	hsa-miR-363	CLIP-seq
MIRT2236001	hsa-miR-3656	CLIP-seq
MIRT1022350	hsa-miR-367	CLIP-seq
MIRT2002949	hsa-miR-3689a-3p	CLIP-seq
MIRT2002950	hsa-miR-3689c	CLIP-seq
MIRT1022353	hsa-miR-3913-5p	CLIP-seq
MIRT1549293	hsa-miR-3929	CLIP-seq
MIRT2236002	hsa-miR-4289	CLIP-seq
MIRT2236003	hsa-miR-4291	CLIP-seq
MIRT1022355	hsa-miR-4298	CLIP-seq
MIRT1022356	hsa-miR-4299	CLIP-seq
MIRT1022357	hsa-miR-4312	CLIP-seq
MIRT1549294	hsa-miR-4419b	CLIP-seq
MIRT1549295	hsa-miR-4478	CLIP-seq
MIRT1022360	hsa-miR-4504	CLIP-seq
MIRT1549296	hsa-miR-4649-3p	CLIP-seq
MIRT2236004	hsa-miR-4682	CLIP-seq
MIRT1549297	hsa-miR-4722-5p	CLIP-seq
MIRT2002951	hsa-miR-4728-5p	CLIP-seq
MIRT2236005	hsa-miR-4734	CLIP-seq
MIRT2236006	hsa-miR-4747-3p	CLIP-seq
MIRT2236007	hsa-miR-4749-3p	CLIP-seq
MIRT1549298	hsa-miR-4768-3p	CLIP-seq
MIRT1022369	hsa-miR-4793-3p	CLIP-seq
MIRT1022370	hsa-miR-485-5p	CLIP-seq
MIRT2236008	hsa-miR-643	CLIP-seq
MIRT1022379	hsa-miR-766	CLIP-seq
MIRT1022380	hsa-miR-767-5p	CLIP-seq
MIRT2236009	hsa-miR-889	CLIP-seq
MIRT2002953	hsa-miR-890	CLIP-seq
MIRT1022381	hsa-miR-92a	CLIP-seq
MIRT1022382	hsa-miR-92b	CLIP-seq
MIRT1549299	hsa-miR-940	CLIP-seq
MIRT1022388	hsa-miR-24	CLIP-seq
MIRT1022398	hsa-miR-4284	CLIP-seq
MIRT2437443	hsa-miR-1910	CLIP-seq
MIRT1022334	hsa-miR-3064-3p	CLIP-seq
MIRT1022365	hsa-miR-4715-3p	CLIP-seq
MIRT1022371	hsa-miR-502-5p	CLIP-seq
MIRT1022383	hsa-miR-944	CLIP-seq
MIRT2442203	hsa-miR-1202	CLIP-seq
MIRT2442204	hsa-miR-1226	CLIP-seq
MIRT2442205	hsa-miR-3126-3p	CLIP-seq
MIRT2442206	hsa-miR-3135b	CLIP-seq
MIRT2442207	hsa-miR-3652	CLIP-seq
MIRT2442208	hsa-miR-3972	CLIP-seq
MIRT2442209	hsa-miR-4430	CLIP-seq
MIRT2442210	hsa-miR-4733-3p	CLIP-seq
MIRT2442211	hsa-miR-496	CLIP-seq
MIRT2450421	hsa-miR-1268	CLIP-seq
MIRT2450422	hsa-miR-1268b	CLIP-seq
MIRT1022385	hsa-miR-1273e	CLIP-seq
MIRT1549292	hsa-miR-1827	CLIP-seq
MIRT1022391	hsa-miR-2964a-3p	CLIP-seq
MIRT1022392	hsa-miR-302f	CLIP-seq
MIRT2450423	hsa-miR-3120-5p	CLIP-seq
MIRT2450424	hsa-miR-3613-3p	CLIP-seq
MIRT2450425	hsa-miR-3675-3p	CLIP-seq
MIRT2450426	hsa-miR-371-5p	CLIP-seq
MIRT2450427	hsa-miR-371b-5p	CLIP-seq
MIRT2450428	hsa-miR-4684-5p	CLIP-seq
MIRT2450429	hsa-miR-4719	CLIP-seq
MIRT1549297	hsa-miR-4722-5p	CLIP-seq
MIRT2450430	hsa-miR-4731-3p	CLIP-seq
MIRT1549298	hsa-miR-4768-3p	CLIP-seq
MIRT2450431	hsa-miR-4778-5p	CLIP-seq
MIRT2450432	hsa-miR-4801	CLIP-seq
MIRT2450433	hsa-miR-548c-3p	CLIP-seq
MIRT1549299	hsa-miR-940	CLIP-seq
MIRT2442203	hsa-miR-1202	CLIP-seq
MIRT2539849	hsa-miR-1204	CLIP-seq
MIRT2442204	hsa-miR-1226	CLIP-seq
MIRT2539850	hsa-miR-125a-3p	CLIP-seq
MIRT1022385	hsa-miR-1273e	CLIP-seq
MIRT2539851	hsa-miR-134	CLIP-seq
MIRT1549292	hsa-miR-1827	CLIP-seq
MIRT2437443	hsa-miR-1910	CLIP-seq
MIRT2539852	hsa-miR-2054	CLIP-seq
MIRT2539853	hsa-miR-214	CLIP-seq
MIRT1022389	hsa-miR-27a	CLIP-seq
MIRT1022390	hsa-miR-27b	CLIP-seq
MIRT1022391	hsa-miR-2964a-3p	CLIP-seq
MIRT1022392	hsa-miR-302f	CLIP-seq
MIRT1022334	hsa-miR-3064-3p	CLIP-seq
MIRT2539854	hsa-miR-3118	CLIP-seq
MIRT2450423	hsa-miR-3120-5p	CLIP-seq
MIRT2442205	hsa-miR-3126-3p	CLIP-seq
MIRT2539855	hsa-miR-3128	CLIP-seq
MIRT2442206	hsa-miR-3135b	CLIP-seq
MIRT2539856	hsa-miR-3148	CLIP-seq
MIRT2539857	hsa-miR-3164	CLIP-seq
MIRT2539858	hsa-miR-3177-3p	CLIP-seq
MIRT2539859	hsa-miR-34a	CLIP-seq
MIRT2539860	hsa-miR-34c-5p	CLIP-seq
MIRT1022345	hsa-miR-3609	CLIP-seq
MIRT2450424	hsa-miR-3613-3p	CLIP-seq
MIRT2539861	hsa-miR-3619-5p	CLIP-seq
MIRT2442207	hsa-miR-3652	CLIP-seq
MIRT2450425	hsa-miR-3675-3p	CLIP-seq
MIRT2450426	hsa-miR-371-5p	CLIP-seq
MIRT2450427	hsa-miR-371b-5p	CLIP-seq
MIRT2539862	hsa-miR-383	CLIP-seq
MIRT1022352	hsa-miR-3910	CLIP-seq
MIRT2539863	hsa-miR-3918	CLIP-seq
MIRT2539864	hsa-miR-3926	CLIP-seq
MIRT2442208	hsa-miR-3972	CLIP-seq
MIRT1022397	hsa-miR-412	CLIP-seq
MIRT2539865	hsa-miR-4251	CLIP-seq
MIRT2539866	hsa-miR-4257	CLIP-seq
MIRT2539867	hsa-miR-4286	CLIP-seq
MIRT2236003	hsa-miR-4291	CLIP-seq
MIRT1022357	hsa-miR-4312	CLIP-seq
MIRT2539868	hsa-miR-4329	CLIP-seq
MIRT2442209	hsa-miR-4430	CLIP-seq
MIRT2539869	hsa-miR-4433	CLIP-seq
MIRT1022400	hsa-miR-4463	CLIP-seq
MIRT1022401	hsa-miR-4494	CLIP-seq
MIRT2539870	hsa-miR-449a	CLIP-seq
MIRT2539871	hsa-miR-449b	CLIP-seq
MIRT2539872	hsa-miR-4512	CLIP-seq
MIRT2539873	hsa-miR-4514	CLIP-seq
MIRT2539874	hsa-miR-4639-3p	CLIP-seq
MIRT2539875	hsa-miR-4650-5p	CLIP-seq
MIRT2539876	hsa-miR-4652-3p	CLIP-seq
MIRT2450428	hsa-miR-4684-5p	CLIP-seq
MIRT2539877	hsa-miR-4692	CLIP-seq
MIRT2539878	hsa-miR-4699-3p	CLIP-seq
MIRT2539879	hsa-miR-4701-5p	CLIP-seq
MIRT1022365	hsa-miR-4715-3p	CLIP-seq
MIRT2450429	hsa-miR-4719	CLIP-seq
MIRT2539880	hsa-miR-4720-5p	CLIP-seq
MIRT1549297	hsa-miR-4722-5p	CLIP-seq
MIRT2450430	hsa-miR-4731-3p	CLIP-seq
MIRT2442210	hsa-miR-4733-3p	CLIP-seq
MIRT1549298	hsa-miR-4768-3p	CLIP-seq
MIRT2450431	hsa-miR-4778-5p	CLIP-seq
MIRT2539881	hsa-miR-4786-5p	CLIP-seq
MIRT2539882	hsa-miR-4793-5p	CLIP-seq
MIRT1022404	hsa-miR-4794	CLIP-seq
MIRT2539883	hsa-miR-4799-3p	CLIP-seq
MIRT2450432	hsa-miR-4801	CLIP-seq
MIRT1022370	hsa-miR-485-5p	CLIP-seq
MIRT2442211	hsa-miR-496	CLIP-seq
MIRT2539884	hsa-miR-501-3p	CLIP-seq
MIRT2539885	hsa-miR-502-3p	CLIP-seq
MIRT1022371	hsa-miR-502-5p	CLIP-seq
MIRT1022372	hsa-miR-511	CLIP-seq
MIRT1022405	hsa-miR-513a-5p	CLIP-seq
MIRT1022406	hsa-miR-515-5p	CLIP-seq
MIRT1022373	hsa-miR-520g	CLIP-seq
MIRT1022374	hsa-miR-520h	CLIP-seq
MIRT1022375	hsa-miR-548ah	CLIP-seq
MIRT2450433	hsa-miR-548c-3p	CLIP-seq
MIRT2539886	hsa-miR-548s	CLIP-seq
MIRT2539887	hsa-miR-552	CLIP-seq
MIRT2539888	hsa-miR-588	CLIP-seq
MIRT2236008	hsa-miR-643	CLIP-seq
MIRT2539889	hsa-miR-7	CLIP-seq
MIRT2539890	hsa-miR-758	CLIP-seq
MIRT2539891	hsa-miR-761	CLIP-seq
MIRT2539892	hsa-miR-767-3p	CLIP-seq
MIRT2539893	hsa-miR-875-5p	CLIP-seq
MIRT1022409	hsa-miR-892b	CLIP-seq
MIRT1022410	hsa-miR-922	CLIP-seq
MIRT1549299	hsa-miR-940	CLIP-seq
MIRT1022383	hsa-miR-944	CLIP-seq
MIRT2442203	hsa-miR-1202	CLIP-seq
MIRT2442204	hsa-miR-1226	CLIP-seq
MIRT2539850	hsa-miR-125a-3p	CLIP-seq
MIRT1022385	hsa-miR-1273e	CLIP-seq
MIRT2539851	hsa-miR-134	CLIP-seq
MIRT1549292	hsa-miR-1827	CLIP-seq
MIRT2437443	hsa-miR-1910	CLIP-seq
MIRT2539852	hsa-miR-2054	CLIP-seq
MIRT2539853	hsa-miR-214	CLIP-seq
MIRT1022331	hsa-miR-2355-3p	CLIP-seq
MIRT1022389	hsa-miR-27a	CLIP-seq
MIRT1022390	hsa-miR-27b	CLIP-seq
MIRT1022391	hsa-miR-2964a-3p	CLIP-seq
MIRT1022392	hsa-miR-302f	CLIP-seq
MIRT1022334	hsa-miR-3064-3p	CLIP-seq
MIRT2539854	hsa-miR-3118	CLIP-seq
MIRT2450423	hsa-miR-3120-5p	CLIP-seq
MIRT2442205	hsa-miR-3126-3p	CLIP-seq
MIRT2539855	hsa-miR-3128	CLIP-seq
MIRT2442206	hsa-miR-3135b	CLIP-seq
MIRT2539856	hsa-miR-3148	CLIP-seq
MIRT2539857	hsa-miR-3164	CLIP-seq
MIRT2539859	hsa-miR-34a	CLIP-seq
MIRT2539860	hsa-miR-34c-5p	CLIP-seq
MIRT1022345	hsa-miR-3609	CLIP-seq
MIRT2450424	hsa-miR-3613-3p	CLIP-seq
MIRT2539861	hsa-miR-3619-5p	CLIP-seq
MIRT2442207	hsa-miR-3652	CLIP-seq
MIRT2450425	hsa-miR-3675-3p	CLIP-seq
MIRT2450426	hsa-miR-371-5p	CLIP-seq
MIRT2450427	hsa-miR-371b-5p	CLIP-seq
MIRT2539864	hsa-miR-3926	CLIP-seq
MIRT2442208	hsa-miR-3972	CLIP-seq
MIRT1022397	hsa-miR-412	CLIP-seq
MIRT2539867	hsa-miR-4286	CLIP-seq
MIRT2236003	hsa-miR-4291	CLIP-seq
MIRT1022357	hsa-miR-4312	CLIP-seq
MIRT2442209	hsa-miR-4430	CLIP-seq
MIRT1022400	hsa-miR-4463	CLIP-seq
MIRT1022401	hsa-miR-4494	CLIP-seq
MIRT2539870	hsa-miR-449a	CLIP-seq
MIRT2539871	hsa-miR-449b	CLIP-seq
MIRT2539873	hsa-miR-4514	CLIP-seq
MIRT2539874	hsa-miR-4639-3p	CLIP-seq
MIRT2539875	hsa-miR-4650-5p	CLIP-seq
MIRT2539876	hsa-miR-4652-3p	CLIP-seq
MIRT2450428	hsa-miR-4684-5p	CLIP-seq
MIRT2539877	hsa-miR-4692	CLIP-seq
MIRT2539878	hsa-miR-4699-3p	CLIP-seq
MIRT1022365	hsa-miR-4715-3p	CLIP-seq
MIRT2450429	hsa-miR-4719	CLIP-seq
MIRT2539880	hsa-miR-4720-5p	CLIP-seq
MIRT1549297	hsa-miR-4722-5p	CLIP-seq
MIRT2450430	hsa-miR-4731-3p	CLIP-seq
MIRT2442210	hsa-miR-4733-3p	CLIP-seq
MIRT1549298	hsa-miR-4768-3p	CLIP-seq
MIRT2450431	hsa-miR-4778-5p	CLIP-seq
MIRT2539881	hsa-miR-4786-5p	CLIP-seq
MIRT2539882	hsa-miR-4793-5p	CLIP-seq
MIRT1022404	hsa-miR-4794	CLIP-seq
MIRT2539883	hsa-miR-4799-3p	CLIP-seq
MIRT2450432	hsa-miR-4801	CLIP-seq
MIRT1022370	hsa-miR-485-5p	CLIP-seq
MIRT2442211	hsa-miR-496	CLIP-seq
MIRT2539884	hsa-miR-501-3p	CLIP-seq
MIRT2539885	hsa-miR-502-3p	CLIP-seq
MIRT1022371	hsa-miR-502-5p	CLIP-seq
MIRT1022372	hsa-miR-511	CLIP-seq
MIRT1022405	hsa-miR-513a-5p	CLIP-seq
MIRT1022373	hsa-miR-520g	CLIP-seq
MIRT1022374	hsa-miR-520h	CLIP-seq
MIRT1022375	hsa-miR-548ah	CLIP-seq
MIRT2450433	hsa-miR-548c-3p	CLIP-seq
MIRT2539886	hsa-miR-548s	CLIP-seq
MIRT2539887	hsa-miR-552	CLIP-seq
MIRT2236008	hsa-miR-643	CLIP-seq
MIRT1022378	hsa-miR-676	CLIP-seq
MIRT2539889	hsa-miR-7	CLIP-seq
MIRT2539891	hsa-miR-761	CLIP-seq
MIRT2539892	hsa-miR-767-3p	CLIP-seq
MIRT2539893	hsa-miR-875-5p	CLIP-seq
MIRT1022409	hsa-miR-892b	CLIP-seq
MIRT1022410	hsa-miR-922	CLIP-seq
MIRT1549299	hsa-miR-940	CLIP-seq
MIRT1022383	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	10987359

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001573	Process	Ganglioside metabolic process	IEA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IEA
GO:0005319	Function	Lipid transporter activity	IBA
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005576	Component	Extracellular region	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006689	Process	Ganglioside catabolic process	IBA
GO:0006689	Process	Ganglioside catabolic process	IEA
GO:0006689	Process	Ganglioside catabolic process	IEA
GO:0006869	Process	Lipid transport	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0008047	Function	Enzyme activator activity	IEA
GO:0009313	Process	Oligosaccharide catabolic process	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IBA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0016004	Function	Phospholipase activator activity	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019915	Process	Lipid storage	IEA
GO:0030290	Function	Sphingolipid activator protein activity	TAS
GO:0032428	Function	Beta-N-acetylgalactosaminidase activity	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046479	Process	Glycosphingolipid catabolic process	IEA
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0050877	Process	Nervous system process	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 613109
• HGNC: 4367
• e!Ensembl: ENSG00000196743

Protein

• UniProt ID: P17900
• Protein name: Ganglioside GM2 activator (Cerebroside sulfate activator protein) (GM2-AP) (Sphingolipid activator protein 3) (SAP-3) [Cleaved into: Ganglioside GM2 activator isoform short]
• Protein function: The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It st
• PDB: 1G13, 1PU5, 1PUB, 1TJJ, 2AF9, 2AG2, 2AG4, 2AG9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02221	E1_DerP2_DerF2	33 → 190	ML domain	Domain

• Sequence:

  MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIV
  PGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIP
  TGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKR
  LGCIKIAASLKGI

• Sequence length: 193

Pathways

KEGG:

Sphingolipid metabolism
Lysosome

Reactome:

Glycosphingolipid metabolism
Neutrophil degranulation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Tay-Sachs disease	Pathogenic	rs587779405	RCV000087094
Tay-Sachs disease, variant AB	Pathogenic; Likely pathogenic	rs587779405, rs1302210667, rs775585062, rs137852797, rs104893892, rs2127240813, rs104893897, rs2114032531, rs2531756555, rs2531757415, rs1057519022, rs1057519021, rs1753894328	RCV002247494 RCV003771940 RCV001782204 RCV000000421 RCV000000422 RCV000000424 RCV000000425 RCV002273276 RCV003335828 RCV003445451 RCV000416363 RCV000416329 RCV001253492

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Uncertain significance	rs112641014	RCV005913943
Cervical cancer	Uncertain significance	rs139014924, rs368443364	RCV005924154 RCV005926642
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	rs112641014	RCV005913949
Familial pancreatic carcinoma	Likely benign; Uncertain significance	rs114108271, rs112641014	RCV005898953 RCV005913946
GM2A-related condition	Benign; Likely benign	rs143867953	RCV004758749
Lymphoma	Likely benign; Uncertain significance	rs114108271, rs112641014	RCV005898954 RCV005913947
Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy	Uncertain significance	rs730882196	RCV000162097
Nonpapillary renal cell carcinoma	Uncertain significance	rs112641014	RCV005913944
Ovarian cancer	Likely benign; Uncertain significance	rs114108271, rs112641014	RCV005898952 RCV005913945
Ovarian serous cystadenocarcinoma	Likely benign	rs114108271	RCV005898955
Sarcoma	Uncertain significance	rs143999954	RCV005898951
Uterine corpus endometrial carcinoma	Uncertain significance	rs112641014	RCV005913948

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	27002480
Candidiasis Oral	Associate	10225911
Carcinoma Non Small Cell Lung	Associate	25490003
Dental Caries	Associate	30518349
Dyskinesias	Associate	9720876
Enterocolitis Necrotizing	Associate	25816011
Esophageal Squamous Cell Carcinoma	Associate	33650665
Gangliosidoses	Associate	32883051
Gangliosidoses GM2	Associate	10364519, 14728689, 9568910
Insulin Resistance	Associate	26672043
Lung Neoplasms	Stimulate	25490003
Lysosomal Storage Diseases Nervous System	Associate	14728689
Macular Degeneration	Associate	32974084
Neoplasms	Associate	27002480
Reticular dysgenesis	Associate	32974084
Sandhoff Disease	Associate	36142595
Tay Sachs Disease	Associate	36142595
Tay Sachs Disease AB Variant	Associate	36142595