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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51360
Gene name	Membrane bound transcription factor peptidase, site 2
Gene symbol	MBTPS2
Synonyms (NCBI Gene)	BRESEKIFAPKFSDKFSDXOI19OLMSXS2P
Chromosome	X
Chromosome location	Xp22.12
Summary	This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been as

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SNP ID	Visualize variation	Clinical significance	Consequence
rs122468176	A>T	Pathogenic	Coding sequence variant, missense variant
rs122468177	G>A	Pathogenic	Coding sequence variant, missense variant
rs122468178	G>A	Pathogenic	Coding sequence variant, missense variant
rs122468179	T>C	Pathogenic	Coding sequence variant, missense variant
rs122468180	G>T	Pathogenic	Coding sequence variant, missense variant
rs587776867	A>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587777305	T>G	Pathogenic	Intron variant
rs587777306	T>C	Pathogenic	Missense variant, coding sequence variant
rs1085307977	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555986267	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555986287	G>C	Pathogenic	Missense variant, coding sequence variant

455

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miRTarBase ID	miRNA	Experiments	Reference
MIRT036430	hsa-miR-1226-3p	CLASH	23622248
MIRT721932	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT721931	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT721930	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT721929	hsa-miR-5695	HITS-CLIP	19536157
MIRT721928	hsa-miR-1256	HITS-CLIP	19536157
MIRT721927	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT721926	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT721932	hsa-miR-6796-3p	HITS-CLIP	19536157
MIRT721931	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT721930	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT721929	hsa-miR-5695	HITS-CLIP	19536157
MIRT721928	hsa-miR-1256	HITS-CLIP	19536157
MIRT721927	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT721926	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT1136203	hsa-miR-10a	CLIP-seq
MIRT1136204	hsa-miR-10b	CLIP-seq
MIRT1136205	hsa-miR-1200	CLIP-seq
MIRT1136206	hsa-miR-1227	CLIP-seq
MIRT1136207	hsa-miR-1270	CLIP-seq
MIRT1136208	hsa-miR-132	CLIP-seq
MIRT1136209	hsa-miR-141	CLIP-seq
MIRT1136210	hsa-miR-15a	CLIP-seq
MIRT1136211	hsa-miR-15b	CLIP-seq
MIRT1136212	hsa-miR-16	CLIP-seq
MIRT1136213	hsa-miR-195	CLIP-seq
MIRT1136214	hsa-miR-200a	CLIP-seq
MIRT1136215	hsa-miR-203	CLIP-seq
MIRT1136216	hsa-miR-212	CLIP-seq
MIRT1136217	hsa-miR-2467-3p	CLIP-seq
MIRT1136218	hsa-miR-28-5p	CLIP-seq
MIRT1136219	hsa-miR-2964a-5p	CLIP-seq
MIRT1136220	hsa-miR-30a	CLIP-seq
MIRT1136221	hsa-miR-30b	CLIP-seq
MIRT1136222	hsa-miR-30c	CLIP-seq
MIRT1136223	hsa-miR-30d	CLIP-seq
MIRT1136224	hsa-miR-30e	CLIP-seq
MIRT1136225	hsa-miR-3136-5p	CLIP-seq
MIRT1136226	hsa-miR-3139	CLIP-seq
MIRT1136227	hsa-miR-3163	CLIP-seq
MIRT1136228	hsa-miR-338-5p	CLIP-seq
MIRT1136229	hsa-miR-3613-3p	CLIP-seq
MIRT1136230	hsa-miR-3661	CLIP-seq
MIRT1136231	hsa-miR-3662	CLIP-seq
MIRT1136232	hsa-miR-3667-5p	CLIP-seq
MIRT1136233	hsa-miR-3678-3p	CLIP-seq
MIRT1136234	hsa-miR-3691-3p	CLIP-seq
MIRT1136235	hsa-miR-377	CLIP-seq
MIRT1136236	hsa-miR-3914	CLIP-seq
MIRT1136237	hsa-miR-3977	CLIP-seq
MIRT1136238	hsa-miR-424	CLIP-seq
MIRT1136239	hsa-miR-4308	CLIP-seq
MIRT1136240	hsa-miR-432	CLIP-seq
MIRT1136241	hsa-miR-4324	CLIP-seq
MIRT1136242	hsa-miR-4439	CLIP-seq
MIRT1136243	hsa-miR-4468	CLIP-seq
MIRT1136244	hsa-miR-4495	CLIP-seq
MIRT1136245	hsa-miR-4513	CLIP-seq
MIRT1136246	hsa-miR-4531	CLIP-seq
MIRT1136247	hsa-miR-4633-3p	CLIP-seq
MIRT1136248	hsa-miR-4698	CLIP-seq
MIRT1136249	hsa-miR-4747-3p	CLIP-seq
MIRT1136250	hsa-miR-4755-3p	CLIP-seq
MIRT1136251	hsa-miR-4773	CLIP-seq
MIRT1136252	hsa-miR-497	CLIP-seq
MIRT1136253	hsa-miR-518a-5p	CLIP-seq
MIRT1136254	hsa-miR-527	CLIP-seq
MIRT1136255	hsa-miR-544b	CLIP-seq
MIRT1136256	hsa-miR-548a-3p	CLIP-seq
MIRT1136257	hsa-miR-548ae	CLIP-seq
MIRT1136258	hsa-miR-548aj	CLIP-seq
MIRT1136259	hsa-miR-548am	CLIP-seq
MIRT1136260	hsa-miR-548e	CLIP-seq
MIRT1136261	hsa-miR-548f	CLIP-seq
MIRT1136262	hsa-miR-548g	CLIP-seq
MIRT1136263	hsa-miR-548x	CLIP-seq
MIRT1136264	hsa-miR-620	CLIP-seq
MIRT1136265	hsa-miR-631	CLIP-seq
MIRT1136266	hsa-miR-665	CLIP-seq
MIRT1136267	hsa-miR-708	CLIP-seq
MIRT1136268	hsa-miR-873	CLIP-seq
MIRT2038744	hsa-miR-1206	CLIP-seq
MIRT2038745	hsa-miR-1224-5p	CLIP-seq
MIRT1136207	hsa-miR-1270	CLIP-seq
MIRT2038746	hsa-miR-1305	CLIP-seq
MIRT2038747	hsa-miR-135a	CLIP-seq
MIRT2038748	hsa-miR-135b	CLIP-seq
MIRT2038749	hsa-miR-138	CLIP-seq
MIRT2038750	hsa-miR-140-3p	CLIP-seq
MIRT1136209	hsa-miR-141	CLIP-seq
MIRT1136214	hsa-miR-200a	CLIP-seq
MIRT2038751	hsa-miR-2052	CLIP-seq
MIRT2038752	hsa-miR-2054	CLIP-seq
MIRT2038753	hsa-miR-217	CLIP-seq
MIRT2038754	hsa-miR-24	CLIP-seq
MIRT1136218	hsa-miR-28-5p	CLIP-seq
MIRT1136219	hsa-miR-2964a-5p	CLIP-seq
MIRT2038755	hsa-miR-300	CLIP-seq
MIRT1136226	hsa-miR-3139	CLIP-seq
MIRT2038756	hsa-miR-3182	CLIP-seq
MIRT2038757	hsa-miR-375	CLIP-seq
MIRT2038758	hsa-miR-381	CLIP-seq
MIRT1136236	hsa-miR-3914	CLIP-seq
MIRT2038759	hsa-miR-3974	CLIP-seq
MIRT1136237	hsa-miR-3977	CLIP-seq
MIRT2038760	hsa-miR-4272	CLIP-seq
MIRT2038761	hsa-miR-4284	CLIP-seq
MIRT2038762	hsa-miR-4299	CLIP-seq
MIRT2038763	hsa-miR-4300	CLIP-seq
MIRT1136240	hsa-miR-432	CLIP-seq
MIRT2038764	hsa-miR-4477b	CLIP-seq
MIRT2038765	hsa-miR-4528	CLIP-seq
MIRT1136246	hsa-miR-4531	CLIP-seq
MIRT1136247	hsa-miR-4633-3p	CLIP-seq
MIRT2038766	hsa-miR-4659a-3p	CLIP-seq
MIRT2038767	hsa-miR-4659b-3p	CLIP-seq
MIRT2038768	hsa-miR-4666-3p	CLIP-seq
MIRT2038769	hsa-miR-4710	CLIP-seq
MIRT2038770	hsa-miR-4729	CLIP-seq
MIRT1136249	hsa-miR-4747-3p	CLIP-seq
MIRT2038771	hsa-miR-4751	CLIP-seq
MIRT2038772	hsa-miR-4792	CLIP-seq
MIRT2038773	hsa-miR-4797-5p	CLIP-seq
MIRT2038774	hsa-miR-579	CLIP-seq
MIRT2038775	hsa-miR-607	CLIP-seq
MIRT1136264	hsa-miR-620	CLIP-seq
MIRT2038776	hsa-miR-642b	CLIP-seq
MIRT1136266	hsa-miR-665	CLIP-seq
MIRT1136267	hsa-miR-708	CLIP-seq
MIRT2038777	hsa-miR-759	CLIP-seq
MIRT1136268	hsa-miR-873	CLIP-seq
MIRT2038778	hsa-miR-920	CLIP-seq
MIRT2268728	hsa-miR-101	CLIP-seq
MIRT2038745	hsa-miR-1224-5p	CLIP-seq
MIRT1136206	hsa-miR-1227	CLIP-seq
MIRT2268729	hsa-miR-1229	CLIP-seq
MIRT2268730	hsa-miR-1245b-3p	CLIP-seq
MIRT2268731	hsa-miR-1266	CLIP-seq
MIRT2038746	hsa-miR-1305	CLIP-seq
MIRT2268732	hsa-miR-1324	CLIP-seq
MIRT2038747	hsa-miR-135a	CLIP-seq
MIRT2038748	hsa-miR-135b	CLIP-seq
MIRT2268733	hsa-miR-137	CLIP-seq
MIRT2038749	hsa-miR-138	CLIP-seq
MIRT2268734	hsa-miR-139-5p	CLIP-seq
MIRT2038750	hsa-miR-140-3p	CLIP-seq
MIRT1136209	hsa-miR-141	CLIP-seq
MIRT2268735	hsa-miR-144	CLIP-seq
MIRT2268736	hsa-miR-186	CLIP-seq
MIRT1136214	hsa-miR-200a	CLIP-seq
MIRT2038754	hsa-miR-24	CLIP-seq
MIRT2038755	hsa-miR-300	CLIP-seq
MIRT2268737	hsa-miR-3124-3p	CLIP-seq
MIRT2268738	hsa-miR-3133	CLIP-seq
MIRT1136225	hsa-miR-3136-5p	CLIP-seq
MIRT2268739	hsa-miR-3143	CLIP-seq
MIRT2268740	hsa-miR-3157-3p	CLIP-seq
MIRT2268741	hsa-miR-3202	CLIP-seq
MIRT2268742	hsa-miR-330-3p	CLIP-seq
MIRT1136228	hsa-miR-338-5p	CLIP-seq
MIRT2268743	hsa-miR-345	CLIP-seq
MIRT2268744	hsa-miR-34b	CLIP-seq
MIRT2268745	hsa-miR-3651	CLIP-seq
MIRT2268746	hsa-miR-3664-5p	CLIP-seq
MIRT1136232	hsa-miR-3667-5p	CLIP-seq
MIRT1136234	hsa-miR-3691-3p	CLIP-seq
MIRT2268747	hsa-miR-3691-5p	CLIP-seq
MIRT2268748	hsa-miR-369-3p	CLIP-seq
MIRT2268749	hsa-miR-370	CLIP-seq
MIRT2268750	hsa-miR-380	CLIP-seq
MIRT2038758	hsa-miR-381	CLIP-seq
MIRT2268751	hsa-miR-421	CLIP-seq
MIRT2268752	hsa-miR-4270	CLIP-seq
MIRT2038760	hsa-miR-4272	CLIP-seq
MIRT2038761	hsa-miR-4284	CLIP-seq
MIRT2038762	hsa-miR-4299	CLIP-seq
MIRT2038763	hsa-miR-4300	CLIP-seq
MIRT2268753	hsa-miR-4303	CLIP-seq
MIRT2268754	hsa-miR-4320	CLIP-seq
MIRT1136242	hsa-miR-4439	CLIP-seq
MIRT2268755	hsa-miR-4441	CLIP-seq
MIRT2268756	hsa-miR-4473	CLIP-seq
MIRT1136244	hsa-miR-4495	CLIP-seq
MIRT2268757	hsa-miR-4501	CLIP-seq
MIRT2268758	hsa-miR-4518	CLIP-seq
MIRT2038765	hsa-miR-4528	CLIP-seq
MIRT2268759	hsa-miR-4639-3p	CLIP-seq
MIRT2038768	hsa-miR-4666-3p	CLIP-seq
MIRT2268760	hsa-miR-4666-5p	CLIP-seq
MIRT2268761	hsa-miR-4671-5p	CLIP-seq
MIRT2268762	hsa-miR-4682	CLIP-seq
MIRT2268763	hsa-miR-4699-3p	CLIP-seq
MIRT2268764	hsa-miR-4699-5p	CLIP-seq
MIRT2268765	hsa-miR-4705	CLIP-seq
MIRT2038769	hsa-miR-4710	CLIP-seq
MIRT2268766	hsa-miR-4714-5p	CLIP-seq
MIRT2038771	hsa-miR-4751	CLIP-seq
MIRT1136250	hsa-miR-4755-3p	CLIP-seq
MIRT2268767	hsa-miR-4764-5p	CLIP-seq
MIRT2268768	hsa-miR-4778-5p	CLIP-seq
MIRT2038772	hsa-miR-4792	CLIP-seq
MIRT2038773	hsa-miR-4797-5p	CLIP-seq
MIRT2268769	hsa-miR-496	CLIP-seq
MIRT2268770	hsa-miR-510	CLIP-seq
MIRT2268771	hsa-miR-512-3p	CLIP-seq
MIRT2268772	hsa-miR-513a-3p	CLIP-seq
MIRT2268773	hsa-miR-520f	CLIP-seq
MIRT2268774	hsa-miR-543	CLIP-seq
MIRT2268775	hsa-miR-553	CLIP-seq
MIRT2268776	hsa-miR-570	CLIP-seq
MIRT2268777	hsa-miR-576-5p	CLIP-seq
MIRT2268778	hsa-miR-582-5p	CLIP-seq
MIRT2038775	hsa-miR-607	CLIP-seq
MIRT2268779	hsa-miR-628-5p	CLIP-seq
MIRT2038776	hsa-miR-642b	CLIP-seq
MIRT2268780	hsa-miR-654-3p	CLIP-seq
MIRT2038777	hsa-miR-759	CLIP-seq
MIRT2268781	hsa-miR-767-3p	CLIP-seq
MIRT2268782	hsa-miR-874	CLIP-seq
MIRT2038778	hsa-miR-920	CLIP-seq
MIRT2268783	hsa-miR-938	CLIP-seq
MIRT2038745	hsa-miR-1224-5p	CLIP-seq
MIRT2038749	hsa-miR-138	CLIP-seq
MIRT2390696	hsa-miR-3184	CLIP-seq
MIRT2390697	hsa-miR-423-5p	CLIP-seq
MIRT2038762	hsa-miR-4299	CLIP-seq
MIRT2038763	hsa-miR-4300	CLIP-seq
MIRT2268756	hsa-miR-4473	CLIP-seq
MIRT2038769	hsa-miR-4710	CLIP-seq
MIRT2038771	hsa-miR-4751	CLIP-seq
MIRT2038772	hsa-miR-4792	CLIP-seq
MIRT2268771	hsa-miR-512-3p	CLIP-seq
MIRT2268773	hsa-miR-520f	CLIP-seq
MIRT2038776	hsa-miR-642b	CLIP-seq
MIRT2038778	hsa-miR-920	CLIP-seq
MIRT2268751	hsa-miR-421	CLIP-seq
MIRT2038760	hsa-miR-4272	CLIP-seq
MIRT2431050	hsa-miR-4282	CLIP-seq
MIRT2438541	hsa-miR-452	CLIP-seq
MIRT2438542	hsa-miR-4676-3p	CLIP-seq
MIRT2438543	hsa-miR-4693-5p	CLIP-seq
MIRT1136205	hsa-miR-1200	CLIP-seq
MIRT2038744	hsa-miR-1206	CLIP-seq
MIRT2038745	hsa-miR-1224-5p	CLIP-seq
MIRT1136207	hsa-miR-1270	CLIP-seq
MIRT2568101	hsa-miR-1273f	CLIP-seq
MIRT2568102	hsa-miR-128	CLIP-seq
MIRT2568103	hsa-miR-1285	CLIP-seq
MIRT2038746	hsa-miR-1305	CLIP-seq
MIRT2038747	hsa-miR-135a	CLIP-seq
MIRT2038748	hsa-miR-135b	CLIP-seq
MIRT2038749	hsa-miR-138	CLIP-seq
MIRT2038750	hsa-miR-140-3p	CLIP-seq
MIRT2568104	hsa-miR-143	CLIP-seq
MIRT1136210	hsa-miR-15a	CLIP-seq
MIRT1136211	hsa-miR-15b	CLIP-seq
MIRT1136212	hsa-miR-16	CLIP-seq
MIRT2568105	hsa-miR-181a	CLIP-seq
MIRT2568106	hsa-miR-181b	CLIP-seq
MIRT2568107	hsa-miR-181c	CLIP-seq
MIRT2568108	hsa-miR-181d	CLIP-seq
MIRT2268736	hsa-miR-186	CLIP-seq
MIRT2568109	hsa-miR-1915	CLIP-seq
MIRT1136213	hsa-miR-195	CLIP-seq
MIRT2568110	hsa-miR-204	CLIP-seq
MIRT2568111	hsa-miR-211	CLIP-seq
MIRT2568112	hsa-miR-214	CLIP-seq
MIRT2038753	hsa-miR-217	CLIP-seq
MIRT2038754	hsa-miR-24	CLIP-seq
MIRT1136218	hsa-miR-28-5p	CLIP-seq
MIRT1136219	hsa-miR-2964a-5p	CLIP-seq
MIRT2038755	hsa-miR-300	CLIP-seq
MIRT2568113	hsa-miR-302f	CLIP-seq
MIRT2268737	hsa-miR-3124-3p	CLIP-seq
MIRT1136226	hsa-miR-3139	CLIP-seq
MIRT2568114	hsa-miR-3145-5p	CLIP-seq
MIRT2568115	hsa-miR-3148	CLIP-seq
MIRT2038756	hsa-miR-3182	CLIP-seq
MIRT2568116	hsa-miR-3187-5p	CLIP-seq
MIRT2268742	hsa-miR-330-3p	CLIP-seq
MIRT1136228	hsa-miR-338-5p	CLIP-seq
MIRT2568117	hsa-miR-3619-5p	CLIP-seq
MIRT1136230	hsa-miR-3661	CLIP-seq
MIRT2568118	hsa-miR-3681	CLIP-seq
MIRT2568119	hsa-miR-378g	CLIP-seq
MIRT2038758	hsa-miR-381	CLIP-seq
MIRT1136236	hsa-miR-3914	CLIP-seq
MIRT2038759	hsa-miR-3974	CLIP-seq
MIRT1136237	hsa-miR-3977	CLIP-seq
MIRT2568120	hsa-miR-410	CLIP-seq
MIRT1136238	hsa-miR-424	CLIP-seq
MIRT2568121	hsa-miR-4262	CLIP-seq
MIRT2568122	hsa-miR-4277	CLIP-seq
MIRT2431050	hsa-miR-4282	CLIP-seq
MIRT2038761	hsa-miR-4284	CLIP-seq
MIRT2568123	hsa-miR-4291	CLIP-seq
MIRT2038762	hsa-miR-4299	CLIP-seq
MIRT2038763	hsa-miR-4300	CLIP-seq
MIRT1136239	hsa-miR-4308	CLIP-seq
MIRT2568124	hsa-miR-4314	CLIP-seq
MIRT2568125	hsa-miR-4317	CLIP-seq
MIRT1136240	hsa-miR-432	CLIP-seq
MIRT2268754	hsa-miR-4320	CLIP-seq
MIRT1136241	hsa-miR-4324	CLIP-seq
MIRT2568126	hsa-miR-4437	CLIP-seq
MIRT2568127	hsa-miR-4446-3p	CLIP-seq
MIRT2568128	hsa-miR-4446-5p	CLIP-seq
MIRT1136243	hsa-miR-4468	CLIP-seq
MIRT2038764	hsa-miR-4477b	CLIP-seq
MIRT2568129	hsa-miR-4486	CLIP-seq
MIRT1136246	hsa-miR-4531	CLIP-seq
MIRT1136247	hsa-miR-4633-3p	CLIP-seq
MIRT2038766	hsa-miR-4659a-3p	CLIP-seq
MIRT2038767	hsa-miR-4659b-3p	CLIP-seq
MIRT2038768	hsa-miR-4666-3p	CLIP-seq
MIRT2568130	hsa-miR-4668-3p	CLIP-seq
MIRT2568131	hsa-miR-4674	CLIP-seq
MIRT2568132	hsa-miR-4685-5p	CLIP-seq
MIRT2568133	hsa-miR-4690-5p	CLIP-seq
MIRT2268764	hsa-miR-4699-5p	CLIP-seq
MIRT2568134	hsa-miR-4708-5p	CLIP-seq
MIRT2038769	hsa-miR-4710	CLIP-seq
MIRT2568135	hsa-miR-4726-3p	CLIP-seq
MIRT2568136	hsa-miR-4728-3p	CLIP-seq
MIRT1136249	hsa-miR-4747-3p	CLIP-seq
MIRT2038771	hsa-miR-4751	CLIP-seq
MIRT2568137	hsa-miR-4755-5p	CLIP-seq
MIRT2568138	hsa-miR-4770	CLIP-seq
MIRT1136251	hsa-miR-4773	CLIP-seq
MIRT2038772	hsa-miR-4792	CLIP-seq
MIRT2038773	hsa-miR-4797-5p	CLIP-seq
MIRT1136252	hsa-miR-497	CLIP-seq
MIRT2568139	hsa-miR-511	CLIP-seq
MIRT2268772	hsa-miR-513a-3p	CLIP-seq
MIRT1136255	hsa-miR-544b	CLIP-seq
MIRT2568140	hsa-miR-587	CLIP-seq
MIRT2038775	hsa-miR-607	CLIP-seq
MIRT2568141	hsa-miR-612	CLIP-seq
MIRT2568142	hsa-miR-616	CLIP-seq
MIRT1136264	hsa-miR-620	CLIP-seq
MIRT2568143	hsa-miR-623	CLIP-seq
MIRT1136265	hsa-miR-631	CLIP-seq
MIRT2038776	hsa-miR-642b	CLIP-seq
MIRT1136266	hsa-miR-665	CLIP-seq
MIRT1136267	hsa-miR-708	CLIP-seq
MIRT2038777	hsa-miR-759	CLIP-seq
MIRT2568144	hsa-miR-760	CLIP-seq
MIRT2568145	hsa-miR-761	CLIP-seq
MIRT1136268	hsa-miR-873	CLIP-seq
MIRT2568146	hsa-miR-875-3p	CLIP-seq
MIRT2038778	hsa-miR-920	CLIP-seq
MIRT2568147	hsa-miR-922	CLIP-seq
MIRT2568148	hsa-miR-944	CLIP-seq
MIRT1136205	hsa-miR-1200	CLIP-seq
MIRT2038745	hsa-miR-1224-5p	CLIP-seq
MIRT2684717	hsa-miR-1264	CLIP-seq
MIRT1136207	hsa-miR-1270	CLIP-seq
MIRT2568101	hsa-miR-1273f	CLIP-seq
MIRT2568103	hsa-miR-1285	CLIP-seq
MIRT2038746	hsa-miR-1305	CLIP-seq
MIRT2038747	hsa-miR-135a	CLIP-seq
MIRT2038748	hsa-miR-135b	CLIP-seq
MIRT2038749	hsa-miR-138	CLIP-seq
MIRT2568104	hsa-miR-143	CLIP-seq
MIRT1136210	hsa-miR-15a	CLIP-seq
MIRT1136211	hsa-miR-15b	CLIP-seq
MIRT1136212	hsa-miR-16	CLIP-seq
MIRT2568105	hsa-miR-181a	CLIP-seq
MIRT2568106	hsa-miR-181b	CLIP-seq
MIRT2568107	hsa-miR-181c	CLIP-seq
MIRT2568108	hsa-miR-181d	CLIP-seq
MIRT2268736	hsa-miR-186	CLIP-seq
MIRT2568109	hsa-miR-1915	CLIP-seq
MIRT1136213	hsa-miR-195	CLIP-seq
MIRT2568110	hsa-miR-204	CLIP-seq
MIRT2038752	hsa-miR-2054	CLIP-seq
MIRT2568111	hsa-miR-211	CLIP-seq
MIRT2568112	hsa-miR-214	CLIP-seq
MIRT2038753	hsa-miR-217	CLIP-seq
MIRT2038754	hsa-miR-24	CLIP-seq
MIRT1136218	hsa-miR-28-5p	CLIP-seq
MIRT1136219	hsa-miR-2964a-5p	CLIP-seq
MIRT2684718	hsa-miR-3138	CLIP-seq
MIRT1136226	hsa-miR-3139	CLIP-seq
MIRT2568114	hsa-miR-3145-5p	CLIP-seq
MIRT2038756	hsa-miR-3182	CLIP-seq
MIRT2568116	hsa-miR-3187-5p	CLIP-seq
MIRT2268742	hsa-miR-330-3p	CLIP-seq
MIRT1136228	hsa-miR-338-5p	CLIP-seq
MIRT2568117	hsa-miR-3619-5p	CLIP-seq
MIRT1136230	hsa-miR-3661	CLIP-seq
MIRT1136234	hsa-miR-3691-3p	CLIP-seq
MIRT2568119	hsa-miR-378g	CLIP-seq
MIRT1136236	hsa-miR-3914	CLIP-seq
MIRT2038759	hsa-miR-3974	CLIP-seq
MIRT1136237	hsa-miR-3977	CLIP-seq
MIRT1136238	hsa-miR-424	CLIP-seq
MIRT2568121	hsa-miR-4262	CLIP-seq
MIRT2568122	hsa-miR-4277	CLIP-seq
MIRT2038761	hsa-miR-4284	CLIP-seq
MIRT2568123	hsa-miR-4291	CLIP-seq
MIRT2038762	hsa-miR-4299	CLIP-seq
MIRT2038763	hsa-miR-4300	CLIP-seq
MIRT1136239	hsa-miR-4308	CLIP-seq
MIRT2568124	hsa-miR-4314	CLIP-seq
MIRT2568125	hsa-miR-4317	CLIP-seq
MIRT1136240	hsa-miR-432	CLIP-seq
MIRT1136241	hsa-miR-4324	CLIP-seq
MIRT2568126	hsa-miR-4437	CLIP-seq
MIRT2568127	hsa-miR-4446-3p	CLIP-seq
MIRT2568128	hsa-miR-4446-5p	CLIP-seq
MIRT1136243	hsa-miR-4468	CLIP-seq
MIRT2038764	hsa-miR-4477b	CLIP-seq
MIRT2568129	hsa-miR-4486	CLIP-seq
MIRT1136246	hsa-miR-4531	CLIP-seq
MIRT1136247	hsa-miR-4633-3p	CLIP-seq
MIRT2038766	hsa-miR-4659a-3p	CLIP-seq
MIRT2038767	hsa-miR-4659b-3p	CLIP-seq
MIRT2568131	hsa-miR-4674	CLIP-seq
MIRT2568132	hsa-miR-4685-5p	CLIP-seq
MIRT2568133	hsa-miR-4690-5p	CLIP-seq
MIRT2568134	hsa-miR-4708-5p	CLIP-seq
MIRT2038769	hsa-miR-4710	CLIP-seq
MIRT2568135	hsa-miR-4726-3p	CLIP-seq
MIRT2568136	hsa-miR-4728-3p	CLIP-seq
MIRT1136249	hsa-miR-4747-3p	CLIP-seq
MIRT2038771	hsa-miR-4751	CLIP-seq
MIRT2568137	hsa-miR-4755-5p	CLIP-seq
MIRT2568138	hsa-miR-4770	CLIP-seq
MIRT1136251	hsa-miR-4773	CLIP-seq
MIRT2038772	hsa-miR-4792	CLIP-seq
MIRT2038773	hsa-miR-4797-5p	CLIP-seq
MIRT2684719	hsa-miR-4800-5p	CLIP-seq
MIRT1136252	hsa-miR-497	CLIP-seq
MIRT2684720	hsa-miR-508-3p	CLIP-seq
MIRT2568139	hsa-miR-511	CLIP-seq
MIRT2268772	hsa-miR-513a-3p	CLIP-seq
MIRT1136255	hsa-miR-544b	CLIP-seq
MIRT2684721	hsa-miR-590-3p	CLIP-seq
MIRT2038775	hsa-miR-607	CLIP-seq
MIRT2568141	hsa-miR-612	CLIP-seq
MIRT2568142	hsa-miR-616	CLIP-seq
MIRT1136264	hsa-miR-620	CLIP-seq
MIRT2568143	hsa-miR-623	CLIP-seq
MIRT1136265	hsa-miR-631	CLIP-seq
MIRT2038776	hsa-miR-642b	CLIP-seq
MIRT1136266	hsa-miR-665	CLIP-seq
MIRT1136267	hsa-miR-708	CLIP-seq
MIRT2684722	hsa-miR-711	CLIP-seq
MIRT2038777	hsa-miR-759	CLIP-seq
MIRT2568144	hsa-miR-760	CLIP-seq
MIRT2568145	hsa-miR-761	CLIP-seq
MIRT1136268	hsa-miR-873	CLIP-seq
MIRT2038778	hsa-miR-920	CLIP-seq
MIRT2568147	hsa-miR-922	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	ISS
GO:0000139	Component	Golgi membrane	TAS
GO:0004222	Function	Metalloendopeptidase activity	EXP	11163209
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	11163209
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS	9659902
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19361614
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006607	Process	NLS-bearing protein import into nucleus	IDA	14645851
GO:0006607	Process	NLS-bearing protein import into nucleus	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	TAS	9659902
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9659902
GO:0016787	Function	Hydrolase activity	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IBA
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IGI	11163209
GO:0034976	Process	Response to endoplasmic reticulum stress	IGI	11163209
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0036500	Process	ATF6-mediated unfolded protein response	TAS	22934019
GO:0045540	Process	Regulation of cholesterol biosynthetic process	TAS
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IDA	12177166
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IDA	11163209
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IMP	12177166
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	11163209
GO:0046872	Function	Metal ion binding	IEA
GO:0051604	Process	Protein maturation	EXP	11163209
GO:0051604	Process	Protein maturation	IDA	11163209
GO:0070977	Process	Bone maturation	IMP	27380894
GO:0140537	Function	Transcription regulator activator activity	IGI	11163209
GO:1905897	Process	Regulation of response to endoplasmic reticulum stress	IBA

MIM	HGNC	e!Ensembl
300294	15455	ENSG00000012174

O43462

Protein name

Membrane-bound transcription factor site-2 protease (EC 3.4.24.85) (Endopeptidase S2P) (Sterol regulatory element-binding proteins intramembrane protease) (SREBPs intramembrane protease)

Protein function

Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:10805775, PubMed:11163209). Catalyzes the second step in the proteolytic activation of the sterol regulatory el

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02163	Peptidase_M50	159 → 501	Peptidase family M50	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas. {ECO:0000269|PubMed:9659902}.

Sequence

MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRA
FYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSS
SSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAI
REQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALV
LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTI
AYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLP
ARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYVGHPLHLHYT
VSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATL
TSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR

Sequence length

519

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones CREB3 factors activate genes

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
IFAP syndrome 1, with or without BRESHECK syndrome	Pathogenic	rs587777305, rs122468176, rs122468177, rs122468178, rs122468179, rs122468180	RCV000114758 RCV000012155 RCV000012156 RCV000012157 RCV000012158 RCV000012159
Keratosis follicularis spinulosa decalvans, X-linked	Pathogenic	rs587776867	RCV000022848
Olmsted syndrome, X-linked	Pathogenic	rs587777306	RCV000114759
Osteogenesis imperfecta, type 19	Pathogenic	rs1555986267, rs1555986287	RCV000675188 RCV000675189

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of neuronal migration	Benign	rs863223373	RCV000201401
Acute myeloid leukemia	Benign	rs2071210	RCV005924865
Cervical cancer	Benign	rs2071210	RCV005924867
Dystonia, early-onset, and/or spastic paraplegia	Benign	rs752875393	RCV005622163
Intellectual disability	Benign; Likely benign	rs200298161, rs749782461, rs142666676	RCV005626599 RCV005622231 RCV005626270
Malignant tumor of esophagus	Benign	rs2071210	RCV005924866
MBTPS2-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs2092914741, rs777980245, rs200298161, rs3834687, rs368929943, rs2519561020, rs2519556417, rs762399077, rs139020486, rs149889191	RCV005225378 RCV003968837 RCV003933329 RCV003943722 RCV003946273 RCV005430864 RCV003397350 RCV003929369 RCV003942830 RCV003950756
Nonpapillary renal cell carcinoma	Uncertain significance; Likely benign	rs748295304, rs758544234	RCV005931335 RCV005907757
Osteogenesis imperfecta	Benign; Likely benign; Conflicting classifications of pathogenicity	rs200298161, rs751755276, rs148895141, rs371946947	RCV002277008 RCV002277814 RCV002279597 RCV002279646
Sarcoma	Benign	rs2071210	RCV005919960
Skeletal dysplasia	Conflicting classifications of pathogenicity	rs149889191	RCV005626265
Thymoma	Benign	rs2071210	RCV005919961
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	rs1221474092, rs2519581550, rs758544234	RCV005931126 RCV005939026 RCV005907758
Uterine corpus endometrial carcinoma	Benign	rs2071210	RCV005919962

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acrocephalosyndactylia	Associate	37305034
Adenocarcinoma of Lung	Associate	32873769, 38167084
Alopecia	Stimulate	15848992
Alopecia	Associate	31215178
Anemia	Associate	34655156
Astrocytoma	Associate	8378327
Brain Anomalies Retardation Ectodermal Dysplasia Skeletal Malformations Hirschsprung Disease Ear Eye Anomalies Cleft Palate Cryptorchidism And Kidney Dysplasia Hypoplasia	Associate	34655156
Cataract	Associate	15848992
Cataract and congenital ichthyosis	Associate	37042943
Congenital Abnormalities	Associate	34655156
Diarrhea	Associate	34655156
Dwarfism Pituitary	Associate	36714562
Femoral Fractures Distal	Associate	37305034
Genetic Diseases X Linked	Associate	37305034
Glioblastoma	Associate	8378327
Growth Disorders	Associate	36714562
Hecht Scott syndrome	Associate	37042943
Hematologic Diseases	Associate	34655156
Hypospadias	Associate	34655156
Ichthyosis	Stimulate	15848992
Ichthyosis	Associate	28329493, 31215178, 34655156, 37305034
Ichthyosis follicularis atrichia photophobia syndrome	Associate	28329493, 31215178, 32497488, 34655156, 37042943, 37305034
Intellectual Disability	Associate	34655156
Keratosis Follicularis Spinulosa Decalvans X Linked	Associate	37305034
Kidney Diseases	Associate	34655156
Neoplasms	Associate	8378327
Non alcoholic Fatty Liver Disease	Stimulate	32920226
Osteogenesis Imperfecta	Associate	27380894, 37305034
Photophobia	Stimulate	15848992
Photophobia	Associate	28329493, 31215178
Primary Myelofibrosis	Associate	34655156
Prostatic Neoplasms	Associate	22540830
Prostatic Neoplasms Castration Resistant	Associate	25880275
Pulmonary Valve Stenosis	Associate	34655156
Renal Insufficiency	Associate	34655156
Salter Harris Fractures	Associate	36714562
Sarcopenia	Associate	15687482
Seizures	Associate	31215178
Thrombocytopenia	Associate	34655156
Tissue Adhesions	Associate	15848992

MBTPS2 (membrane bound transcription factor peptidase, site 2)