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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2760
Gene name	Ganglioside GM2 activator
Gene symbol	GM2A
Synonyms (NCBI Gene)	GM2-APGM2APSAP-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

Show/Hide all (8)

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

467

Show/Hide all (467)

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

Show/Hide all (1)

Transcription factor	Regulation	Reference
SP1	Unknown	10987359

Show/Hide all (34)

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

MIM	HGNC	e!Ensembl
613109	4367	ENSG00000196743

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

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Lysosome		Glycosphingolipid metabolism Neutrophil degranulation

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Tay-Sachs disease	Pathogenic	rs587779405	RCV000087094	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GM2 GANGLIOSIDOSIS, AB VARIANT	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GM2-GANGLIOSIDOSIS, AB VARIANT	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GM2A-related condition	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAY-SACHS DISEASE AB VARIANT	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAY-SACHS DISEASE, AB VARIANT	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27002480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27002480	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	25816011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30804561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	30518349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	9720876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	25816011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33650665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
GM2 gangliosidosis, AB variant	GM1 Gangliosidosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26672043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25490003	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32974084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27002480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27002480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	25816011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27402091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24096133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff Disease	BEFREE	11339652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff disease	Pubtator	36142595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	23010210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	8288250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease	Tay-Sachs Disease	BEFREE	11090283, 11339652, 18952610		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tay-Sachs Disease	Tay-Sachs Disease	GENOMICS_ENGLAND_DG	26203402		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tay-Sachs Disease	Tay-Sachs Disease	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tay-Sachs Disease, AB Variant	Tay-Sachs Disease	BEFREE	10364519, 11339652		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tay-Sachs Disease, AB Variant	Tay-Sachs Disease	GENOMICS_ENGLAND_DG	1915858, 25529582, 26203402, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tay-Sachs Disease, AB Variant	Tay-Sachs Disease	UNIPROT_DG	1915858, 8244332, 8900233		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tay-Sachs Disease, AB Variant	Tay-Sachs Disease	ORPHANET_DG	8900233		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tay-Sachs Disease, AB Variant	Tay-Sachs Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tay-Sachs Disease, AB Variant	Tay-Sachs Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GM2A (ganglioside GM2 activator)