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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	166929
Gene name	Sphingomyelin synthase 2
Gene symbol	SGMS2
Synonyms (NCBI Gene)	CDLSMS2
Chromosome	4
Chromosome location	4q25
Summary	Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reacti

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019865	hsa-miR-375	Microarray	20215506
MIRT026582	hsa-miR-192-5p	Microarray	19074876
MIRT040261	hsa-miR-615-3p	CLASH	23622248
MIRT437955	hsa-miR-133a-3p	In situ hybridizationMicroarrayqRT-PCRLuciferase reporter assayWestern blot	24715690
MIRT437955	hsa-miR-133a-3p	In situ hybridizationMicroarrayqRT-PCRLuciferase reporter assayWestern blot	24715690
MIRT355854	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT355846	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT355847	hsa-miR-3609	PAR-CLIP	20371350
MIRT355851	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT510774	hsa-miR-3668	PAR-CLIP	20371350
MIRT510773	hsa-miR-7852-3p	PAR-CLIP	20371350
MIRT355848	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT355844	hsa-miR-190a-5p	PAR-CLIP	20371350
MIRT355845	hsa-miR-190b	PAR-CLIP	20371350
MIRT510772	hsa-miR-885-3p	PAR-CLIP	20371350
MIRT510771	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT510769	hsa-miR-6745	PAR-CLIP	20371350
MIRT510770	hsa-miR-6756-5p	PAR-CLIP	20371350
MIRT510768	hsa-miR-6766-5p	PAR-CLIP	20371350
MIRT510767	hsa-miR-1293	PAR-CLIP	20371350
MIRT510766	hsa-miR-4483	PAR-CLIP	20371350
MIRT510765	hsa-miR-1262	PAR-CLIP	20371350
MIRT510764	hsa-miR-4701-3p	PAR-CLIP	20371350
MIRT510763	hsa-miR-6736-5p	PAR-CLIP	20371350
MIRT510762	hsa-miR-6741-5p	PAR-CLIP	20371350
MIRT355854	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT355846	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT355847	hsa-miR-3609	PAR-CLIP	20371350
MIRT355851	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT510774	hsa-miR-3668	PAR-CLIP	20371350
MIRT510773	hsa-miR-7852-3p	PAR-CLIP	20371350
MIRT355848	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT355844	hsa-miR-190a-5p	PAR-CLIP	20371350
MIRT355845	hsa-miR-190b	PAR-CLIP	20371350
MIRT510772	hsa-miR-885-3p	PAR-CLIP	20371350
MIRT510771	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT510769	hsa-miR-6745	PAR-CLIP	20371350
MIRT510770	hsa-miR-6756-5p	PAR-CLIP	20371350
MIRT510768	hsa-miR-6766-5p	PAR-CLIP	20371350
MIRT510767	hsa-miR-1293	PAR-CLIP	20371350
MIRT510766	hsa-miR-4483	PAR-CLIP	20371350
MIRT355849	hsa-miR-3689a-5p	PAR-CLIP	20371350
MIRT355850	hsa-miR-3689b-5p	PAR-CLIP	20371350
MIRT355852	hsa-miR-3689e	PAR-CLIP	20371350
MIRT355853	hsa-miR-3689f	PAR-CLIP	20371350
MIRT510765	hsa-miR-1262	PAR-CLIP	20371350
MIRT510764	hsa-miR-4701-3p	PAR-CLIP	20371350
MIRT510763	hsa-miR-6736-5p	PAR-CLIP	20371350
MIRT510762	hsa-miR-6741-5p	PAR-CLIP	20371350
MIRT355854	hsa-miR-548az-5p	PAR-CLIP	23446348
MIRT355846	hsa-miR-548t-5p	PAR-CLIP	23446348
MIRT355847	hsa-miR-3609	PAR-CLIP	23446348
MIRT355851	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT510774	hsa-miR-3668	PAR-CLIP	23446348
MIRT510773	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT355848	hsa-miR-3613-3p	PAR-CLIP	23446348
MIRT355844	hsa-miR-190a-5p	PAR-CLIP	23446348
MIRT355845	hsa-miR-190b	PAR-CLIP	23446348
MIRT510772	hsa-miR-885-3p	PAR-CLIP	23446348
MIRT510771	hsa-miR-363-5p	PAR-CLIP	23446348
MIRT510769	hsa-miR-6745	PAR-CLIP	23446348
MIRT510770	hsa-miR-6756-5p	PAR-CLIP	23446348
MIRT510768	hsa-miR-6766-5p	PAR-CLIP	23446348
MIRT510767	hsa-miR-1293	PAR-CLIP	23446348
MIRT510766	hsa-miR-4483	PAR-CLIP	23446348
MIRT510765	hsa-miR-1262	PAR-CLIP	23446348
MIRT510764	hsa-miR-4701-3p	PAR-CLIP	23446348
MIRT510763	hsa-miR-6736-5p	PAR-CLIP	23446348
MIRT510762	hsa-miR-6741-5p	PAR-CLIP	23446348
MIRT355854	hsa-miR-548az-5p	PAR-CLIP	23446348
MIRT355846	hsa-miR-548t-5p	PAR-CLIP	23446348
MIRT355847	hsa-miR-3609	PAR-CLIP	23446348
MIRT355851	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT510774	hsa-miR-3668	PAR-CLIP	23446348
MIRT510773	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT355848	hsa-miR-3613-3p	PAR-CLIP	23446348
MIRT355844	hsa-miR-190a-5p	PAR-CLIP	23446348
MIRT355845	hsa-miR-190b	PAR-CLIP	23446348
MIRT510772	hsa-miR-885-3p	PAR-CLIP	23446348
MIRT510771	hsa-miR-363-5p	PAR-CLIP	23446348
MIRT510769	hsa-miR-6745	PAR-CLIP	23446348
MIRT510770	hsa-miR-6756-5p	PAR-CLIP	23446348
MIRT510768	hsa-miR-6766-5p	PAR-CLIP	23446348
MIRT510767	hsa-miR-1293	PAR-CLIP	23446348
MIRT510766	hsa-miR-4483	PAR-CLIP	23446348
MIRT355849	hsa-miR-3689a-5p	PAR-CLIP	23446348
MIRT355850	hsa-miR-3689b-5p	PAR-CLIP	23446348
MIRT355852	hsa-miR-3689e	PAR-CLIP	23446348
MIRT355853	hsa-miR-3689f	PAR-CLIP	23446348
MIRT510765	hsa-miR-1262	PAR-CLIP	23446348
MIRT510764	hsa-miR-4701-3p	PAR-CLIP	23446348
MIRT510763	hsa-miR-6736-5p	PAR-CLIP	23446348
MIRT510762	hsa-miR-6741-5p	PAR-CLIP	23446348
MIRT355854	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT355846	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT355847	hsa-miR-3609	PAR-CLIP	20371350
MIRT355851	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT510774	hsa-miR-3668	PAR-CLIP	20371350
MIRT510773	hsa-miR-7852-3p	PAR-CLIP	20371350
MIRT355848	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT355844	hsa-miR-190a-5p	PAR-CLIP	20371350
MIRT355845	hsa-miR-190b	PAR-CLIP	20371350
MIRT510772	hsa-miR-885-3p	PAR-CLIP	20371350
MIRT510771	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT510769	hsa-miR-6745	PAR-CLIP	20371350
MIRT510770	hsa-miR-6756-5p	PAR-CLIP	20371350
MIRT510768	hsa-miR-6766-5p	PAR-CLIP	20371350
MIRT510767	hsa-miR-1293	PAR-CLIP	20371350
MIRT510766	hsa-miR-4483	PAR-CLIP	20371350
MIRT510765	hsa-miR-1262	PAR-CLIP	20371350
MIRT510764	hsa-miR-4701-3p	PAR-CLIP	20371350
MIRT510763	hsa-miR-6736-5p	PAR-CLIP	20371350
MIRT510762	hsa-miR-6741-5p	PAR-CLIP	20371350
MIRT355854	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT355846	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT355847	hsa-miR-3609	PAR-CLIP	20371350
MIRT355851	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT510774	hsa-miR-3668	PAR-CLIP	20371350
MIRT510773	hsa-miR-7852-3p	PAR-CLIP	20371350
MIRT355848	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT355844	hsa-miR-190a-5p	PAR-CLIP	20371350
MIRT355845	hsa-miR-190b	PAR-CLIP	20371350
MIRT510772	hsa-miR-885-3p	PAR-CLIP	20371350
MIRT510771	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT510769	hsa-miR-6745	PAR-CLIP	20371350
MIRT510770	hsa-miR-6756-5p	PAR-CLIP	20371350
MIRT510768	hsa-miR-6766-5p	PAR-CLIP	20371350
MIRT510767	hsa-miR-1293	PAR-CLIP	20371350
MIRT510766	hsa-miR-4483	PAR-CLIP	20371350
MIRT355849	hsa-miR-3689a-5p	PAR-CLIP	20371350
MIRT355850	hsa-miR-3689b-5p	PAR-CLIP	20371350
MIRT355852	hsa-miR-3689e	PAR-CLIP	20371350
MIRT355853	hsa-miR-3689f	PAR-CLIP	20371350
MIRT510765	hsa-miR-1262	PAR-CLIP	20371350
MIRT510764	hsa-miR-4701-3p	PAR-CLIP	20371350
MIRT510763	hsa-miR-6736-5p	PAR-CLIP	20371350
MIRT510762	hsa-miR-6741-5p	PAR-CLIP	20371350
MIRT355854	hsa-miR-548az-5p	PAR-CLIP	23446348
MIRT355846	hsa-miR-548t-5p	PAR-CLIP	23446348
MIRT355847	hsa-miR-3609	PAR-CLIP	23446348
MIRT355851	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT510774	hsa-miR-3668	PAR-CLIP	23446348
MIRT510773	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT355848	hsa-miR-3613-3p	PAR-CLIP	23446348
MIRT355844	hsa-miR-190a-5p	PAR-CLIP	23446348
MIRT355845	hsa-miR-190b	PAR-CLIP	23446348
MIRT510772	hsa-miR-885-3p	PAR-CLIP	23446348
MIRT510771	hsa-miR-363-5p	PAR-CLIP	23446348
MIRT510769	hsa-miR-6745	PAR-CLIP	23446348
MIRT510770	hsa-miR-6756-5p	PAR-CLIP	23446348
MIRT510768	hsa-miR-6766-5p	PAR-CLIP	23446348
MIRT510767	hsa-miR-1293	PAR-CLIP	23446348
MIRT510766	hsa-miR-4483	PAR-CLIP	23446348
MIRT510765	hsa-miR-1262	PAR-CLIP	23446348
MIRT510764	hsa-miR-4701-3p	PAR-CLIP	23446348
MIRT510763	hsa-miR-6736-5p	PAR-CLIP	23446348
MIRT510762	hsa-miR-6741-5p	PAR-CLIP	23446348
MIRT355854	hsa-miR-548az-5p	PAR-CLIP	23446348
MIRT355846	hsa-miR-548t-5p	PAR-CLIP	23446348
MIRT355847	hsa-miR-3609	PAR-CLIP	23446348
MIRT355851	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT510774	hsa-miR-3668	PAR-CLIP	23446348
MIRT510773	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT355848	hsa-miR-3613-3p	PAR-CLIP	23446348
MIRT355844	hsa-miR-190a-5p	PAR-CLIP	23446348
MIRT355845	hsa-miR-190b	PAR-CLIP	23446348
MIRT510772	hsa-miR-885-3p	PAR-CLIP	23446348
MIRT510771	hsa-miR-363-5p	PAR-CLIP	23446348
MIRT510769	hsa-miR-6745	PAR-CLIP	23446348
MIRT510770	hsa-miR-6756-5p	PAR-CLIP	23446348
MIRT510768	hsa-miR-6766-5p	PAR-CLIP	23446348
MIRT510767	hsa-miR-1293	PAR-CLIP	23446348
MIRT510766	hsa-miR-4483	PAR-CLIP	23446348
MIRT355849	hsa-miR-3689a-5p	PAR-CLIP	23446348
MIRT355850	hsa-miR-3689b-5p	PAR-CLIP	23446348
MIRT355852	hsa-miR-3689e	PAR-CLIP	23446348
MIRT355853	hsa-miR-3689f	PAR-CLIP	23446348
MIRT510765	hsa-miR-1262	PAR-CLIP	23446348
MIRT510764	hsa-miR-4701-3p	PAR-CLIP	23446348
MIRT510763	hsa-miR-6736-5p	PAR-CLIP	23446348
MIRT510762	hsa-miR-6741-5p	PAR-CLIP	23446348
MIRT755954	hsa-miR-494-3p	Luciferase reporter assayqRT-PCRRNA-seq	38785931
MIRT1343420	hsa-miR-101	CLIP-seq
MIRT1343421	hsa-miR-1206	CLIP-seq
MIRT1343422	hsa-miR-133a	CLIP-seq
MIRT1343423	hsa-miR-133b	CLIP-seq
MIRT1343424	hsa-miR-144	CLIP-seq
MIRT1343425	hsa-miR-223	CLIP-seq
MIRT1343426	hsa-miR-374a	CLIP-seq
MIRT1343427	hsa-miR-374b	CLIP-seq
MIRT1343428	hsa-miR-3922-5p	CLIP-seq
MIRT1343429	hsa-miR-3929	CLIP-seq
MIRT1343430	hsa-miR-4277	CLIP-seq
MIRT1343431	hsa-miR-4279	CLIP-seq
MIRT1343432	hsa-miR-4419b	CLIP-seq
MIRT1343433	hsa-miR-4478	CLIP-seq
MIRT1343434	hsa-miR-4659a-3p	CLIP-seq
MIRT1343435	hsa-miR-4659b-3p	CLIP-seq
MIRT1343436	hsa-miR-4729	CLIP-seq
MIRT1343437	hsa-miR-494	CLIP-seq
MIRT1343438	hsa-miR-513a-3p	CLIP-seq
MIRT1343439	hsa-miR-579	CLIP-seq
MIRT1343440	hsa-miR-873	CLIP-seq
MIRT1343420	hsa-miR-101	CLIP-seq
MIRT1343441	hsa-miR-1225-5p	CLIP-seq
MIRT1343442	hsa-miR-1229	CLIP-seq
MIRT1343443	hsa-miR-1305	CLIP-seq
MIRT1343444	hsa-miR-130a	CLIP-seq
MIRT1343445	hsa-miR-130b	CLIP-seq
MIRT1343424	hsa-miR-144	CLIP-seq
MIRT1343446	hsa-miR-148a	CLIP-seq
MIRT1343447	hsa-miR-148b	CLIP-seq
MIRT1343448	hsa-miR-152	CLIP-seq
MIRT1343449	hsa-miR-15a	CLIP-seq
MIRT1343450	hsa-miR-15b	CLIP-seq
MIRT1343451	hsa-miR-16	CLIP-seq
MIRT1343452	hsa-miR-195	CLIP-seq
MIRT1343453	hsa-miR-19a	CLIP-seq
MIRT1343454	hsa-miR-19b	CLIP-seq
MIRT1343455	hsa-miR-301a	CLIP-seq
MIRT1343456	hsa-miR-301b	CLIP-seq
MIRT1343457	hsa-miR-3143	CLIP-seq
MIRT1343458	hsa-miR-3200-3p	CLIP-seq
MIRT1343459	hsa-miR-323-3p	CLIP-seq
MIRT1343460	hsa-miR-335	CLIP-seq
MIRT1343461	hsa-miR-342-3p	CLIP-seq
MIRT1343462	hsa-miR-3616-5p	CLIP-seq
MIRT1343463	hsa-miR-3647-5p	CLIP-seq
MIRT1343464	hsa-miR-3666	CLIP-seq
MIRT1343465	hsa-miR-3975	CLIP-seq
MIRT1343466	hsa-miR-424	CLIP-seq
MIRT1343467	hsa-miR-4276	CLIP-seq
MIRT1343468	hsa-miR-4295	CLIP-seq
MIRT1343469	hsa-miR-4302	CLIP-seq
MIRT1343470	hsa-miR-4328	CLIP-seq
MIRT1343471	hsa-miR-4455	CLIP-seq
MIRT1343472	hsa-miR-4519	CLIP-seq
MIRT1343473	hsa-miR-454	CLIP-seq
MIRT1343474	hsa-miR-4639-5p	CLIP-seq
MIRT1343475	hsa-miR-4671-3p	CLIP-seq
MIRT1343476	hsa-miR-4704-5p	CLIP-seq
MIRT1343477	hsa-miR-4797-5p	CLIP-seq
MIRT1343478	hsa-miR-489	CLIP-seq
MIRT1343437	hsa-miR-494	CLIP-seq
MIRT1343479	hsa-miR-497	CLIP-seq
MIRT1343480	hsa-miR-498	CLIP-seq
MIRT1343438	hsa-miR-513a-3p	CLIP-seq
MIRT1343481	hsa-miR-543	CLIP-seq
MIRT1343482	hsa-miR-555	CLIP-seq
MIRT1343483	hsa-miR-573	CLIP-seq
MIRT1343484	hsa-miR-582-5p	CLIP-seq
MIRT1343485	hsa-miR-609	CLIP-seq
MIRT1343486	hsa-miR-648	CLIP-seq
MIRT1343487	hsa-miR-653	CLIP-seq
MIRT1343488	hsa-miR-9	CLIP-seq
MIRT1343489	hsa-miR-3074-3p	CLIP-seq
MIRT1343490	hsa-miR-33a	CLIP-seq
MIRT1343491	hsa-miR-33b	CLIP-seq
MIRT1343492	hsa-miR-3691-3p	CLIP-seq
MIRT1343493	hsa-miR-3973	CLIP-seq
MIRT1343494	hsa-miR-4694-5p	CLIP-seq
MIRT1343495	hsa-miR-4796-3p	CLIP-seq
MIRT1343496	hsa-miR-520g	CLIP-seq
MIRT1343497	hsa-miR-520h	CLIP-seq
MIRT1343498	hsa-miR-548n	CLIP-seq
MIRT1343499	hsa-miR-548t	CLIP-seq
MIRT1553630	hsa-miR-3161	CLIP-seq
MIRT1553631	hsa-miR-450b-5p	CLIP-seq
MIRT1553632	hsa-miR-548a-3p	CLIP-seq
MIRT1553633	hsa-miR-548ae	CLIP-seq
MIRT1553634	hsa-miR-548aj	CLIP-seq
MIRT1553635	hsa-miR-548am	CLIP-seq
MIRT1553636	hsa-miR-548e	CLIP-seq
MIRT1553637	hsa-miR-548f	CLIP-seq
MIRT1553638	hsa-miR-548x	CLIP-seq
MIRT1343444	hsa-miR-130a	CLIP-seq
MIRT1343445	hsa-miR-130b	CLIP-seq
MIRT1343455	hsa-miR-301a	CLIP-seq
MIRT1343456	hsa-miR-301b	CLIP-seq
MIRT2101489	hsa-miR-3124-3p	CLIP-seq
MIRT1343461	hsa-miR-342-3p	CLIP-seq
MIRT1343464	hsa-miR-3666	CLIP-seq
MIRT2101490	hsa-miR-4272	CLIP-seq
MIRT1343430	hsa-miR-4277	CLIP-seq
MIRT1343468	hsa-miR-4295	CLIP-seq
MIRT1343469	hsa-miR-4302	CLIP-seq
MIRT1343470	hsa-miR-4328	CLIP-seq
MIRT2101491	hsa-miR-4423-3p	CLIP-seq
MIRT2101492	hsa-miR-4452	CLIP-seq
MIRT2101493	hsa-miR-4495	CLIP-seq
MIRT1343473	hsa-miR-454	CLIP-seq
MIRT1343475	hsa-miR-4671-3p	CLIP-seq
MIRT1343476	hsa-miR-4704-5p	CLIP-seq
MIRT2101494	hsa-miR-520d-5p	CLIP-seq
MIRT2101495	hsa-miR-524-5p	CLIP-seq
MIRT2101496	hsa-miR-548c-3p	CLIP-seq
MIRT2101497	hsa-miR-103a	CLIP-seq
MIRT2101498	hsa-miR-107	CLIP-seq
MIRT2101499	hsa-miR-182	CLIP-seq
MIRT1343420	hsa-miR-101	CLIP-seq
MIRT1343430	hsa-miR-4277	CLIP-seq
MIRT2101493	hsa-miR-4495	CLIP-seq
MIRT2101497	hsa-miR-103a	CLIP-seq
MIRT2101498	hsa-miR-107	CLIP-seq
MIRT2325878	hsa-miR-1245b-3p	CLIP-seq
MIRT2325879	hsa-miR-137	CLIP-seq
MIRT2325880	hsa-miR-25	CLIP-seq
MIRT2325881	hsa-miR-32	CLIP-seq
MIRT2325882	hsa-miR-363	CLIP-seq
MIRT2325883	hsa-miR-367	CLIP-seq
MIRT1343469	hsa-miR-4302	CLIP-seq
MIRT1343470	hsa-miR-4328	CLIP-seq
MIRT2325884	hsa-miR-4424	CLIP-seq
MIRT2325885	hsa-miR-4457	CLIP-seq
MIRT1553631	hsa-miR-450b-5p	CLIP-seq
MIRT2325886	hsa-miR-4653-3p	CLIP-seq
MIRT2325887	hsa-miR-4731-3p	CLIP-seq
MIRT2325888	hsa-miR-4801	CLIP-seq
MIRT1553633	hsa-miR-548ae	CLIP-seq
MIRT1553634	hsa-miR-548aj	CLIP-seq
MIRT1553635	hsa-miR-548am	CLIP-seq
MIRT1553638	hsa-miR-548x	CLIP-seq
MIRT1343440	hsa-miR-873	CLIP-seq
MIRT2325889	hsa-miR-888	CLIP-seq
MIRT2325890	hsa-miR-92a	CLIP-seq
MIRT2325891	hsa-miR-92b	CLIP-seq
MIRT2325892	hsa-miR-944	CLIP-seq
MIRT1343420	hsa-miR-101	CLIP-seq
MIRT2101497	hsa-miR-103a	CLIP-seq
MIRT2101498	hsa-miR-107	CLIP-seq
MIRT1343444	hsa-miR-130a	CLIP-seq
MIRT1343445	hsa-miR-130b	CLIP-seq
MIRT2394320	hsa-miR-29a	CLIP-seq
MIRT2394321	hsa-miR-29b	CLIP-seq
MIRT2394322	hsa-miR-29c	CLIP-seq
MIRT1343455	hsa-miR-301a	CLIP-seq
MIRT1343456	hsa-miR-301b	CLIP-seq
MIRT2394323	hsa-miR-3065-3p	CLIP-seq
MIRT1343464	hsa-miR-3666	CLIP-seq
MIRT2394324	hsa-miR-3944-5p	CLIP-seq
MIRT1343468	hsa-miR-4295	CLIP-seq
MIRT1343473	hsa-miR-454	CLIP-seq
MIRT1343475	hsa-miR-4671-3p	CLIP-seq
MIRT2394325	hsa-miR-4716-5p	CLIP-seq
MIRT2394326	hsa-miR-603	CLIP-seq
MIRT2394327	hsa-miR-656	CLIP-seq
MIRT2394328	hsa-miR-767-5p	CLIP-seq
MIRT2459251	hsa-miR-4764-3p	CLIP-seq
MIRT2459252	hsa-miR-618	CLIP-seq
MIRT2621619	hsa-miR-4422	CLIP-seq
MIRT2621620	hsa-miR-513b	CLIP-seq
MIRT2621621	hsa-miR-942	CLIP-seq
MIRT2621619	hsa-miR-4422	CLIP-seq
MIRT2621620	hsa-miR-513b	CLIP-seq
MIRT2621621	hsa-miR-942	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	14685263
GO:0000139	Component	Golgi membrane	IEA
GO:0002950	Function	Ceramide phosphoethanolamine synthase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005794	Component	Golgi apparatus	IDA	14685263
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	14685263, 30779713
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006686	Process	Sphingomyelin biosynthetic process	IBA
GO:0006686	Process	Sphingomyelin biosynthetic process	IDA	14685263, 17982138
GO:0006686	Process	Sphingomyelin biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0030500	Process	Regulation of bone mineralization	IMP	30779713
GO:0033188	Function	Sphingomyelin synthase activity	IBA
GO:0033188	Function	Sphingomyelin synthase activity	IDA	17982138, 30779713
GO:0033188	Function	Sphingomyelin synthase activity	IEA
GO:0033188	Function	Sphingomyelin synthase activity	TAS
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0047493	Function	Ceramide cholinephosphotransferase activity	IBA
GO:0047493	Function	Ceramide cholinephosphotransferase activity	IDA	14685263
GO:1905373	Process	Ceramide phosphoethanolamine biosynthetic process	IEA

MIM	HGNC	e!Ensembl
611574	28395	ENSG00000164023

Q8NHU3

Protein name

Phosphatidylcholine:ceramide cholinephosphotransferase 2 (EC 2.7.8.27) (Sphingomyelin synthase 2) (SMS2)

Protein function

Sphingomyelin synthase that primarily contributes to sphingomyelin synthesis and homeostasis at the plasma membrane. Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis: in the forward reaction transfers phos

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14360	PAP2_C	220 → 293	PAP2 superfamily C-terminal	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain, heart, kidney, liver, muscle and stomach. Also expressed in a number of cell lines such as carcinoma HeLa cells, hepatoma Hep-G2 cells, and colon carcinoma Caco-2 cells. {ECO:0000269|PubMed:14685263}.

Sequence

MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKSLSSGLRKGTKKYPDYI
QIAMPTESRNKFPLEWWKTGIAFIYAVFNLVLTTVMITVVHERVPPKELSPPLPDKFFDY
IDRVKWAFSVSEINGIILVGLWITQWLFLRYKSIVGRRFCFIIGTLYLYRCITMYVTTLP
VPGMHFQCAPKLNGDSQAKVQRILRLISGGGLSITGSHILCGDFLFSGHTVTLTLTYLFI
KEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTIDVIIAYYITTRLFWWYHSMANEKNL
KVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCKKYSRVQKIGED
NEKST

Sequence length

365

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway		Sphingolipid de novo biosynthesis

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia	Pathogenic	rs1560667512, rs1560667521	RCV000786776 RCV000786777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia	Likely pathogenic; Pathogenic	rs1560667389	RCV001796213	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Calvarial doughnut lesions-bone fragility syndrome	Likely pathogenic; Pathogenic	rs1560667389	RCV000786775	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

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.
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOUGHNUT LESION OF CALVARIA AND BONE FRAGILITY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SGMS2-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arteriosclerosis	Arteriosclerosis	BEFREE	19286635, 21235823, 22538014, 28505533, 28619536, 30074791, 30580239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	19286635, 21235823, 22538014, 28505533, 28619536, 30074791, 30580239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	37175737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30770781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21418611	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36056909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28522594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28522594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28522594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36691044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27840247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28742512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28742512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21669879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Doughnut Lesions of Skull, Familial	Doughnut Lesions Of Skull	UNIPROT_DG	30779713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Doughnut Lesions of Skull, Familial	Doughnut Lesions Of Skull	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23640498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	27010944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	34096319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30646599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30646599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30779713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	37298446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	21844222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	28500623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30770781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30770781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28522594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28522594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21669879, 21844222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	30779713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30779713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30779713, 34156493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33727749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	31517509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29285103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	30779713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23640498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	30779713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	30272329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SGMS2 (sphingomyelin synthase 2)