ERLIN2 (ER lipid raft associated 2)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 11160
• Gene name: ER lipid raft associated 2
• Gene symbol: ERLIN2
• Synonyms (NCBI Gene): C8orf2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B
• Chromosome: 8
• Chromosome location: 8p11.23
• Summary: This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by me

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776893	->AC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs763958615	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1057519172	G>A	Likely-pathogenic	Splice acceptor variant
rs1585907153	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585919102	->GGCCATTGCTTCCA	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

miRNA Show/Hide all (577)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004154	hsa-miR-192-5p	Microarray	16822819
MIRT025281	hsa-miR-34a-5p	Proteomics	21566225
MIRT025281	hsa-miR-34a-5p	Proteomics	21566225
MIRT025281	hsa-miR-34a-5p	Proteomics	21566225
MIRT031903	hsa-miR-16-5p	Proteomics	18668040
MIRT048896	hsa-miR-93-5p	CLASH	23622248
MIRT047981	hsa-miR-30c-5p	CLASH	23622248
MIRT043639	hsa-miR-326	CLASH	23622248
MIRT739790	hsa-miR-2355-5p	CLIP-seq
MIRT739791	hsa-miR-3679-3p	CLIP-seq
MIRT739789	hsa-miR-4267	CLIP-seq
MIRT739788	hsa-miR-4268	CLIP-seq
MIRT739787	hsa-miR-4691-5p	CLIP-seq
MIRT969352	hsa-miR-105	CLIP-seq
MIRT969353	hsa-miR-1184	CLIP-seq
MIRT969354	hsa-miR-1205	CLIP-seq
MIRT969355	hsa-miR-1208	CLIP-seq
MIRT969356	hsa-miR-1246	CLIP-seq
MIRT969357	hsa-miR-1253	CLIP-seq
MIRT969358	hsa-miR-125a-3p	CLIP-seq
MIRT969359	hsa-miR-1271	CLIP-seq
MIRT969360	hsa-miR-1278	CLIP-seq
MIRT969361	hsa-miR-1283	CLIP-seq
MIRT969362	hsa-miR-1290	CLIP-seq
MIRT969363	hsa-miR-15a	CLIP-seq
MIRT969364	hsa-miR-15b	CLIP-seq
MIRT969365	hsa-miR-16	CLIP-seq
MIRT969366	hsa-miR-181a	CLIP-seq
MIRT969367	hsa-miR-181b	CLIP-seq
MIRT969368	hsa-miR-181c	CLIP-seq
MIRT969369	hsa-miR-181d	CLIP-seq
MIRT969370	hsa-miR-182	CLIP-seq
MIRT969371	hsa-miR-186	CLIP-seq
MIRT969372	hsa-miR-1908	CLIP-seq
MIRT969373	hsa-miR-195	CLIP-seq
MIRT969374	hsa-miR-196a	CLIP-seq
MIRT969375	hsa-miR-196b	CLIP-seq
MIRT969376	hsa-miR-2117	CLIP-seq
MIRT969377	hsa-miR-216b	CLIP-seq
MIRT969378	hsa-miR-2276	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT969380	hsa-miR-3133	CLIP-seq
MIRT969381	hsa-miR-3150a-5p	CLIP-seq
MIRT969382	hsa-miR-3150b-5p	CLIP-seq
MIRT969383	hsa-miR-3158-5p	CLIP-seq
MIRT969384	hsa-miR-3163	CLIP-seq
MIRT969385	hsa-miR-3167	CLIP-seq
MIRT969386	hsa-miR-3194-5p	CLIP-seq
MIRT969387	hsa-miR-340	CLIP-seq
MIRT969388	hsa-miR-34b	CLIP-seq
MIRT969389	hsa-miR-3591-5p	CLIP-seq
MIRT969390	hsa-miR-3662	CLIP-seq
MIRT969391	hsa-miR-3675-3p	CLIP-seq
MIRT969392	hsa-miR-3682-5p	CLIP-seq
MIRT969393	hsa-miR-3688-3p	CLIP-seq
MIRT969394	hsa-miR-3919	CLIP-seq
MIRT969395	hsa-miR-3934	CLIP-seq
MIRT969396	hsa-miR-3974	CLIP-seq
MIRT969397	hsa-miR-412	CLIP-seq
MIRT969398	hsa-miR-424	CLIP-seq
MIRT969399	hsa-miR-4262	CLIP-seq
MIRT969400	hsa-miR-4264	CLIP-seq
MIRT969401	hsa-miR-4272	CLIP-seq
MIRT969402	hsa-miR-4273	CLIP-seq
MIRT969403	hsa-miR-4282	CLIP-seq
MIRT969404	hsa-miR-4326	CLIP-seq
MIRT969405	hsa-miR-4420	CLIP-seq
MIRT969406	hsa-miR-4447	CLIP-seq
MIRT969407	hsa-miR-4454	CLIP-seq
MIRT969408	hsa-miR-4472	CLIP-seq
MIRT969409	hsa-miR-4476	CLIP-seq
MIRT969410	hsa-miR-4481	CLIP-seq
MIRT969411	hsa-miR-4517	CLIP-seq
MIRT969412	hsa-miR-4524	CLIP-seq
MIRT969413	hsa-miR-4641	CLIP-seq
MIRT969414	hsa-miR-4643	CLIP-seq
MIRT969415	hsa-miR-4651	CLIP-seq
MIRT969416	hsa-miR-4684-5p	CLIP-seq
MIRT739787	hsa-miR-4691-5p	CLIP-seq
MIRT969417	hsa-miR-4698	CLIP-seq
MIRT969418	hsa-miR-4717-3p	CLIP-seq
MIRT969419	hsa-miR-4729	CLIP-seq
MIRT969420	hsa-miR-4730	CLIP-seq
MIRT969421	hsa-miR-4745-5p	CLIP-seq
MIRT969422	hsa-miR-4756-3p	CLIP-seq
MIRT969423	hsa-miR-4758-5p	CLIP-seq
MIRT969424	hsa-miR-4762-5p	CLIP-seq
MIRT969425	hsa-miR-4763-5p	CLIP-seq
MIRT969426	hsa-miR-4765	CLIP-seq
MIRT969427	hsa-miR-4772-3p	CLIP-seq
MIRT969428	hsa-miR-4790-3p	CLIP-seq
MIRT969429	hsa-miR-4797-3p	CLIP-seq
MIRT969430	hsa-miR-493	CLIP-seq
MIRT969431	hsa-miR-494	CLIP-seq
MIRT969432	hsa-miR-497	CLIP-seq
MIRT969433	hsa-miR-503	CLIP-seq
MIRT969434	hsa-miR-518a-5p	CLIP-seq
MIRT969435	hsa-miR-518d-5p	CLIP-seq
MIRT969436	hsa-miR-519b-5p	CLIP-seq
MIRT969437	hsa-miR-519c-5p	CLIP-seq
MIRT969438	hsa-miR-520c-5p	CLIP-seq
MIRT969439	hsa-miR-520d-5p	CLIP-seq
MIRT969440	hsa-miR-524-5p	CLIP-seq
MIRT969441	hsa-miR-526a	CLIP-seq
MIRT969442	hsa-miR-527	CLIP-seq
MIRT969443	hsa-miR-539	CLIP-seq
MIRT969444	hsa-miR-543	CLIP-seq
MIRT969445	hsa-miR-544	CLIP-seq
MIRT969446	hsa-miR-561	CLIP-seq
MIRT969447	hsa-miR-576-3p	CLIP-seq
MIRT969448	hsa-miR-580	CLIP-seq
MIRT969449	hsa-miR-582-3p	CLIP-seq
MIRT969450	hsa-miR-595	CLIP-seq
MIRT969451	hsa-miR-608	CLIP-seq
MIRT969452	hsa-miR-646	CLIP-seq
MIRT969453	hsa-miR-648	CLIP-seq
MIRT969454	hsa-miR-663	CLIP-seq
MIRT969455	hsa-miR-7	CLIP-seq
MIRT969456	hsa-miR-764	CLIP-seq
MIRT969457	hsa-miR-876-5p	CLIP-seq
MIRT969458	hsa-miR-885-5p	CLIP-seq
MIRT969459	hsa-miR-935	CLIP-seq
MIRT969460	hsa-miR-96	CLIP-seq
MIRT969355	hsa-miR-1208	CLIP-seq
MIRT969363	hsa-miR-15a	CLIP-seq
MIRT969364	hsa-miR-15b	CLIP-seq
MIRT969365	hsa-miR-16	CLIP-seq
MIRT969373	hsa-miR-195	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT969392	hsa-miR-3682-5p	CLIP-seq
MIRT969398	hsa-miR-424	CLIP-seq
MIRT969405	hsa-miR-4420	CLIP-seq
MIRT969412	hsa-miR-4524	CLIP-seq
MIRT969432	hsa-miR-497	CLIP-seq
MIRT969433	hsa-miR-503	CLIP-seq
MIRT969452	hsa-miR-646	CLIP-seq
MIRT969458	hsa-miR-885-5p	CLIP-seq
MIRT1987254	hsa-miR-106a	CLIP-seq
MIRT1987255	hsa-miR-106b	CLIP-seq
MIRT969358	hsa-miR-125a-3p	CLIP-seq
MIRT1987256	hsa-miR-1273d	CLIP-seq
MIRT1987257	hsa-miR-1284	CLIP-seq
MIRT1987258	hsa-miR-1293	CLIP-seq
MIRT1987259	hsa-miR-129-3p	CLIP-seq
MIRT1987260	hsa-miR-137	CLIP-seq
MIRT1987261	hsa-miR-142-5p	CLIP-seq
MIRT1987262	hsa-miR-150	CLIP-seq
MIRT969363	hsa-miR-15a	CLIP-seq
MIRT969364	hsa-miR-15b	CLIP-seq
MIRT969365	hsa-miR-16	CLIP-seq
MIRT1987263	hsa-miR-17	CLIP-seq
MIRT969373	hsa-miR-195	CLIP-seq
MIRT1987264	hsa-miR-208a	CLIP-seq
MIRT1987265	hsa-miR-208b	CLIP-seq
MIRT1987266	hsa-miR-20a	CLIP-seq
MIRT1987267	hsa-miR-20b	CLIP-seq
MIRT1987268	hsa-miR-22	CLIP-seq
MIRT1987269	hsa-miR-2277-3p	CLIP-seq
MIRT1987270	hsa-miR-27a	CLIP-seq
MIRT1987271	hsa-miR-27b	CLIP-seq
MIRT1987272	hsa-miR-302a	CLIP-seq
MIRT1987273	hsa-miR-302b	CLIP-seq
MIRT1987274	hsa-miR-302c	CLIP-seq
MIRT1987275	hsa-miR-302d	CLIP-seq
MIRT1987276	hsa-miR-302e	CLIP-seq
MIRT1987277	hsa-miR-3117-5p	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT969381	hsa-miR-3150a-5p	CLIP-seq
MIRT969382	hsa-miR-3150b-5p	CLIP-seq
MIRT1987278	hsa-miR-3189-3p	CLIP-seq
MIRT1987279	hsa-miR-323-5p	CLIP-seq
MIRT1987280	hsa-miR-324-5p	CLIP-seq
MIRT969387	hsa-miR-340	CLIP-seq
MIRT1987281	hsa-miR-3619-3p	CLIP-seq
MIRT969392	hsa-miR-3682-5p	CLIP-seq
MIRT1987282	hsa-miR-3691-3p	CLIP-seq
MIRT1987283	hsa-miR-372	CLIP-seq
MIRT1987284	hsa-miR-373	CLIP-seq
MIRT1987285	hsa-miR-3918	CLIP-seq
MIRT969394	hsa-miR-3919	CLIP-seq
MIRT1987286	hsa-miR-3920	CLIP-seq
MIRT969395	hsa-miR-3934	CLIP-seq
MIRT1987287	hsa-miR-3945	CLIP-seq
MIRT969398	hsa-miR-424	CLIP-seq
MIRT1987288	hsa-miR-4253	CLIP-seq
MIRT1987289	hsa-miR-4257	CLIP-seq
MIRT1987290	hsa-miR-4260	CLIP-seq
MIRT1987291	hsa-miR-4283	CLIP-seq
MIRT1987292	hsa-miR-4290	CLIP-seq
MIRT1987293	hsa-miR-4305	CLIP-seq
MIRT1987294	hsa-miR-4312	CLIP-seq
MIRT969405	hsa-miR-4420	CLIP-seq
MIRT1987295	hsa-miR-4436b-3p	CLIP-seq
MIRT1987296	hsa-miR-4436b-5p	CLIP-seq
MIRT969407	hsa-miR-4454	CLIP-seq
MIRT1987297	hsa-miR-4480	CLIP-seq
MIRT1987298	hsa-miR-4483	CLIP-seq
MIRT1987299	hsa-miR-4489	CLIP-seq
MIRT1987300	hsa-miR-4522	CLIP-seq
MIRT969412	hsa-miR-4524	CLIP-seq
MIRT1987301	hsa-miR-4639-5p	CLIP-seq
MIRT969415	hsa-miR-4651	CLIP-seq
MIRT1987302	hsa-miR-4659a-3p	CLIP-seq
MIRT1987303	hsa-miR-4659b-3p	CLIP-seq
MIRT1987304	hsa-miR-4680-5p	CLIP-seq
MIRT1987305	hsa-miR-4714-5p	CLIP-seq
MIRT969419	hsa-miR-4729	CLIP-seq
MIRT1987306	hsa-miR-4731-5p	CLIP-seq
MIRT1987307	hsa-miR-4740-3p	CLIP-seq
MIRT1987308	hsa-miR-4757-5p	CLIP-seq
MIRT1987309	hsa-miR-4761-3p	CLIP-seq
MIRT969425	hsa-miR-4763-5p	CLIP-seq
MIRT1987310	hsa-miR-4764-3p	CLIP-seq
MIRT969427	hsa-miR-4772-3p	CLIP-seq
MIRT1987311	hsa-miR-4777-5p	CLIP-seq
MIRT1987312	hsa-miR-4789-3p	CLIP-seq
MIRT1987313	hsa-miR-4795-5p	CLIP-seq
MIRT1987314	hsa-miR-488	CLIP-seq
MIRT969432	hsa-miR-497	CLIP-seq
MIRT1987315	hsa-miR-498	CLIP-seq
MIRT1987316	hsa-miR-499-5p	CLIP-seq
MIRT969433	hsa-miR-503	CLIP-seq
MIRT1987317	hsa-miR-508-5p	CLIP-seq
MIRT1987318	hsa-miR-5095	CLIP-seq
MIRT1987319	hsa-miR-512-3p	CLIP-seq
MIRT1987320	hsa-miR-513a-3p	CLIP-seq
MIRT1987321	hsa-miR-513a-5p	CLIP-seq
MIRT1987322	hsa-miR-516a-5p	CLIP-seq
MIRT969435	hsa-miR-518d-5p	CLIP-seq
MIRT969436	hsa-miR-519b-5p	CLIP-seq
MIRT969437	hsa-miR-519c-5p	CLIP-seq
MIRT1987323	hsa-miR-519d	CLIP-seq
MIRT1987324	hsa-miR-520a-3p	CLIP-seq
MIRT1987325	hsa-miR-520b	CLIP-seq
MIRT1987326	hsa-miR-520c-3p	CLIP-seq
MIRT969438	hsa-miR-520c-5p	CLIP-seq
MIRT1987327	hsa-miR-520d-3p	CLIP-seq
MIRT1987328	hsa-miR-520e	CLIP-seq
MIRT1987329	hsa-miR-520g	CLIP-seq
MIRT1987330	hsa-miR-520h	CLIP-seq
MIRT969441	hsa-miR-526a	CLIP-seq
MIRT1987331	hsa-miR-552	CLIP-seq
MIRT969447	hsa-miR-576-3p	CLIP-seq
MIRT1987332	hsa-miR-577	CLIP-seq
MIRT969449	hsa-miR-582-3p	CLIP-seq
MIRT969451	hsa-miR-608	CLIP-seq
MIRT1987333	hsa-miR-635	CLIP-seq
MIRT969452	hsa-miR-646	CLIP-seq
MIRT969456	hsa-miR-764	CLIP-seq
MIRT969458	hsa-miR-885-5p	CLIP-seq
MIRT1987334	hsa-miR-93	CLIP-seq
MIRT969352	hsa-miR-105	CLIP-seq
MIRT1987254	hsa-miR-106a	CLIP-seq
MIRT1987255	hsa-miR-106b	CLIP-seq
MIRT969358	hsa-miR-125a-3p	CLIP-seq
MIRT969359	hsa-miR-1271	CLIP-seq
MIRT1987256	hsa-miR-1273d	CLIP-seq
MIRT2221735	hsa-miR-1273f	CLIP-seq
MIRT1987258	hsa-miR-1293	CLIP-seq
MIRT1987259	hsa-miR-129-3p	CLIP-seq
MIRT2221736	hsa-miR-129-5p	CLIP-seq
MIRT2221737	hsa-miR-1302	CLIP-seq
MIRT1987262	hsa-miR-150	CLIP-seq
MIRT969363	hsa-miR-15a	CLIP-seq
MIRT969364	hsa-miR-15b	CLIP-seq
MIRT969365	hsa-miR-16	CLIP-seq
MIRT1987263	hsa-miR-17	CLIP-seq
MIRT2221738	hsa-miR-193a-3p	CLIP-seq
MIRT2221739	hsa-miR-193b	CLIP-seq
MIRT969373	hsa-miR-195	CLIP-seq
MIRT2221740	hsa-miR-1976	CLIP-seq
MIRT1987264	hsa-miR-208a	CLIP-seq
MIRT1987265	hsa-miR-208b	CLIP-seq
MIRT1987266	hsa-miR-20a	CLIP-seq
MIRT1987267	hsa-miR-20b	CLIP-seq
MIRT2221741	hsa-miR-219-1-3p	CLIP-seq
MIRT1987268	hsa-miR-22	CLIP-seq
MIRT2221742	hsa-miR-24	CLIP-seq
MIRT2221743	hsa-miR-2467-5p	CLIP-seq
MIRT1987270	hsa-miR-27a	CLIP-seq
MIRT1987271	hsa-miR-27b	CLIP-seq
MIRT1987272	hsa-miR-302a	CLIP-seq
MIRT1987273	hsa-miR-302b	CLIP-seq
MIRT1987274	hsa-miR-302c	CLIP-seq
MIRT1987275	hsa-miR-302d	CLIP-seq
MIRT1987276	hsa-miR-302e	CLIP-seq
MIRT1987277	hsa-miR-3117-5p	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT2221744	hsa-miR-3128	CLIP-seq
MIRT969381	hsa-miR-3150a-5p	CLIP-seq
MIRT969382	hsa-miR-3150b-5p	CLIP-seq
MIRT2221745	hsa-miR-3166	CLIP-seq
MIRT2221746	hsa-miR-3170	CLIP-seq
MIRT2221747	hsa-miR-3182	CLIP-seq
MIRT2221748	hsa-miR-3188	CLIP-seq
MIRT1987278	hsa-miR-3189-3p	CLIP-seq
MIRT1987279	hsa-miR-323-5p	CLIP-seq
MIRT2221749	hsa-miR-330-5p	CLIP-seq
MIRT969387	hsa-miR-340	CLIP-seq
MIRT2221750	hsa-miR-3617	CLIP-seq
MIRT2221751	hsa-miR-3618	CLIP-seq
MIRT1987281	hsa-miR-3619-3p	CLIP-seq
MIRT969392	hsa-miR-3682-5p	CLIP-seq
MIRT1987283	hsa-miR-372	CLIP-seq
MIRT1987284	hsa-miR-373	CLIP-seq
MIRT2221752	hsa-miR-377	CLIP-seq
MIRT1987286	hsa-miR-3920	CLIP-seq
MIRT969395	hsa-miR-3934	CLIP-seq
MIRT969396	hsa-miR-3974	CLIP-seq
MIRT2221753	hsa-miR-3975	CLIP-seq
MIRT969397	hsa-miR-412	CLIP-seq
MIRT969398	hsa-miR-424	CLIP-seq
MIRT1987290	hsa-miR-4260	CLIP-seq
MIRT2221754	hsa-miR-4269	CLIP-seq
MIRT2221755	hsa-miR-4279	CLIP-seq
MIRT1987291	hsa-miR-4283	CLIP-seq
MIRT2221756	hsa-miR-4284	CLIP-seq
MIRT1987292	hsa-miR-4290	CLIP-seq
MIRT2221757	hsa-miR-4298	CLIP-seq
MIRT1987293	hsa-miR-4305	CLIP-seq
MIRT1987294	hsa-miR-4312	CLIP-seq
MIRT2221758	hsa-miR-4327	CLIP-seq
MIRT969405	hsa-miR-4420	CLIP-seq
MIRT1987296	hsa-miR-4436b-5p	CLIP-seq
MIRT969406	hsa-miR-4447	CLIP-seq
MIRT969407	hsa-miR-4454	CLIP-seq
MIRT2221759	hsa-miR-4470	CLIP-seq
MIRT969408	hsa-miR-4472	CLIP-seq
MIRT969409	hsa-miR-4476	CLIP-seq
MIRT1987298	hsa-miR-4483	CLIP-seq
MIRT1987299	hsa-miR-4489	CLIP-seq
MIRT1987300	hsa-miR-4522	CLIP-seq
MIRT969412	hsa-miR-4524	CLIP-seq
MIRT969414	hsa-miR-4643	CLIP-seq
MIRT2221760	hsa-miR-4649-3p	CLIP-seq
MIRT969415	hsa-miR-4651	CLIP-seq
MIRT1987302	hsa-miR-4659a-3p	CLIP-seq
MIRT1987303	hsa-miR-4659b-3p	CLIP-seq
MIRT2221761	hsa-miR-4662a-5p	CLIP-seq
MIRT2221762	hsa-miR-4663	CLIP-seq
MIRT2221763	hsa-miR-4722-3p	CLIP-seq
MIRT969419	hsa-miR-4729	CLIP-seq
MIRT1987306	hsa-miR-4731-5p	CLIP-seq
MIRT1987307	hsa-miR-4740-3p	CLIP-seq
MIRT2221764	hsa-miR-4755-3p	CLIP-seq
MIRT1987308	hsa-miR-4757-5p	CLIP-seq
MIRT969425	hsa-miR-4763-5p	CLIP-seq
MIRT1987310	hsa-miR-4764-3p	CLIP-seq
MIRT969426	hsa-miR-4765	CLIP-seq
MIRT2221765	hsa-miR-4771	CLIP-seq
MIRT969427	hsa-miR-4772-3p	CLIP-seq
MIRT1987311	hsa-miR-4777-5p	CLIP-seq
MIRT2221766	hsa-miR-4778-3p	CLIP-seq
MIRT2221767	hsa-miR-4781-3p	CLIP-seq
MIRT1987312	hsa-miR-4789-3p	CLIP-seq
MIRT2221768	hsa-miR-4803	CLIP-seq
MIRT2221769	hsa-miR-485-5p	CLIP-seq
MIRT1987314	hsa-miR-488	CLIP-seq
MIRT969430	hsa-miR-493	CLIP-seq
MIRT969432	hsa-miR-497	CLIP-seq
MIRT1987315	hsa-miR-498	CLIP-seq
MIRT1987316	hsa-miR-499-5p	CLIP-seq
MIRT969433	hsa-miR-503	CLIP-seq
MIRT1987317	hsa-miR-508-5p	CLIP-seq
MIRT1987318	hsa-miR-5095	CLIP-seq
MIRT1987319	hsa-miR-512-3p	CLIP-seq
MIRT1987321	hsa-miR-513a-5p	CLIP-seq
MIRT1987322	hsa-miR-516a-5p	CLIP-seq
MIRT969435	hsa-miR-518d-5p	CLIP-seq
MIRT969436	hsa-miR-519b-5p	CLIP-seq
MIRT969437	hsa-miR-519c-5p	CLIP-seq
MIRT1987323	hsa-miR-519d	CLIP-seq
MIRT1987324	hsa-miR-520a-3p	CLIP-seq
MIRT1987325	hsa-miR-520b	CLIP-seq
MIRT1987326	hsa-miR-520c-3p	CLIP-seq
MIRT969438	hsa-miR-520c-5p	CLIP-seq
MIRT1987327	hsa-miR-520d-3p	CLIP-seq
MIRT1987328	hsa-miR-520e	CLIP-seq
MIRT1987329	hsa-miR-520g	CLIP-seq
MIRT1987330	hsa-miR-520h	CLIP-seq
MIRT969441	hsa-miR-526a	CLIP-seq
MIRT969443	hsa-miR-539	CLIP-seq
MIRT969444	hsa-miR-543	CLIP-seq
MIRT2221770	hsa-miR-550a	CLIP-seq
MIRT1987331	hsa-miR-552	CLIP-seq
MIRT2221771	hsa-miR-562	CLIP-seq
MIRT2221772	hsa-miR-571	CLIP-seq
MIRT2221773	hsa-miR-579	CLIP-seq
MIRT969451	hsa-miR-608	CLIP-seq
MIRT2221774	hsa-miR-641	CLIP-seq
MIRT969452	hsa-miR-646	CLIP-seq
MIRT969456	hsa-miR-764	CLIP-seq
MIRT969458	hsa-miR-885-5p	CLIP-seq
MIRT2221775	hsa-miR-892b	CLIP-seq
MIRT1987334	hsa-miR-93	CLIP-seq
MIRT969460	hsa-miR-96	CLIP-seq
MIRT969372	hsa-miR-1908	CLIP-seq
MIRT969406	hsa-miR-4447	CLIP-seq
MIRT969408	hsa-miR-4472	CLIP-seq
MIRT969415	hsa-miR-4651	CLIP-seq
MIRT969420	hsa-miR-4730	CLIP-seq
MIRT2221772	hsa-miR-571	CLIP-seq
MIRT969451	hsa-miR-608	CLIP-seq
MIRT969454	hsa-miR-663	CLIP-seq
MIRT969352	hsa-miR-105	CLIP-seq
MIRT2437084	hsa-miR-23a	CLIP-seq
MIRT2437085	hsa-miR-23b	CLIP-seq
MIRT2437086	hsa-miR-23c	CLIP-seq
MIRT2437087	hsa-miR-3671	CLIP-seq
MIRT2437088	hsa-miR-4307	CLIP-seq
MIRT2221761	hsa-miR-4662a-5p	CLIP-seq
MIRT2437089	hsa-miR-4666-5p	CLIP-seq
MIRT2437090	hsa-miR-607	CLIP-seq
MIRT2448945	hsa-miR-3149	CLIP-seq
MIRT2448946	hsa-miR-3713	CLIP-seq
MIRT969401	hsa-miR-4272	CLIP-seq
MIRT2437088	hsa-miR-4307	CLIP-seq
MIRT2448947	hsa-miR-4716-5p	CLIP-seq
MIRT969352	hsa-miR-105	CLIP-seq
MIRT1987254	hsa-miR-106a	CLIP-seq
MIRT1987255	hsa-miR-106b	CLIP-seq
MIRT969358	hsa-miR-125a-3p	CLIP-seq
MIRT2525409	hsa-miR-1265	CLIP-seq
MIRT2221736	hsa-miR-129-5p	CLIP-seq
MIRT2221737	hsa-miR-1302	CLIP-seq
MIRT2525410	hsa-miR-136	CLIP-seq
MIRT1987261	hsa-miR-142-5p	CLIP-seq
MIRT1987262	hsa-miR-150	CLIP-seq
MIRT1987263	hsa-miR-17	CLIP-seq
MIRT2221740	hsa-miR-1976	CLIP-seq
MIRT1987264	hsa-miR-208a	CLIP-seq
MIRT1987265	hsa-miR-208b	CLIP-seq
MIRT1987266	hsa-miR-20a	CLIP-seq
MIRT1987267	hsa-miR-20b	CLIP-seq
MIRT2437084	hsa-miR-23a	CLIP-seq
MIRT2437085	hsa-miR-23b	CLIP-seq
MIRT2437086	hsa-miR-23c	CLIP-seq
MIRT2221743	hsa-miR-2467-5p	CLIP-seq
MIRT1987272	hsa-miR-302a	CLIP-seq
MIRT1987273	hsa-miR-302b	CLIP-seq
MIRT1987274	hsa-miR-302c	CLIP-seq
MIRT1987275	hsa-miR-302d	CLIP-seq
MIRT1987276	hsa-miR-302e	CLIP-seq
MIRT1987277	hsa-miR-3117-5p	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT969381	hsa-miR-3150a-5p	CLIP-seq
MIRT969382	hsa-miR-3150b-5p	CLIP-seq
MIRT2221747	hsa-miR-3182	CLIP-seq
MIRT2221748	hsa-miR-3188	CLIP-seq
MIRT2525411	hsa-miR-325	CLIP-seq
MIRT2525412	hsa-miR-3658	CLIP-seq
MIRT2525413	hsa-miR-3667-5p	CLIP-seq
MIRT2437087	hsa-miR-3671	CLIP-seq
MIRT1987283	hsa-miR-372	CLIP-seq
MIRT1987284	hsa-miR-373	CLIP-seq
MIRT969394	hsa-miR-3919	CLIP-seq
MIRT969395	hsa-miR-3934	CLIP-seq
MIRT2221753	hsa-miR-3975	CLIP-seq
MIRT2221755	hsa-miR-4279	CLIP-seq
MIRT2221757	hsa-miR-4298	CLIP-seq
MIRT2437088	hsa-miR-4307	CLIP-seq
MIRT1987294	hsa-miR-4312	CLIP-seq
MIRT969407	hsa-miR-4454	CLIP-seq
MIRT2221761	hsa-miR-4662a-5p	CLIP-seq
MIRT2221762	hsa-miR-4663	CLIP-seq
MIRT2437089	hsa-miR-4666-5p	CLIP-seq
MIRT2525414	hsa-miR-4699-3p	CLIP-seq
MIRT2221763	hsa-miR-4722-3p	CLIP-seq
MIRT1987306	hsa-miR-4731-5p	CLIP-seq
MIRT1987307	hsa-miR-4740-3p	CLIP-seq
MIRT969422	hsa-miR-4756-3p	CLIP-seq
MIRT1987308	hsa-miR-4757-5p	CLIP-seq
MIRT2525415	hsa-miR-4760-5p	CLIP-seq
MIRT969425	hsa-miR-4763-5p	CLIP-seq
MIRT2221768	hsa-miR-4803	CLIP-seq
MIRT2221769	hsa-miR-485-5p	CLIP-seq
MIRT1987314	hsa-miR-488	CLIP-seq
MIRT1987315	hsa-miR-498	CLIP-seq
MIRT1987316	hsa-miR-499-5p	CLIP-seq
MIRT1987319	hsa-miR-512-3p	CLIP-seq
MIRT1987323	hsa-miR-519d	CLIP-seq
MIRT1987324	hsa-miR-520a-3p	CLIP-seq
MIRT1987325	hsa-miR-520b	CLIP-seq
MIRT1987326	hsa-miR-520c-3p	CLIP-seq
MIRT1987327	hsa-miR-520d-3p	CLIP-seq
MIRT1987328	hsa-miR-520e	CLIP-seq
MIRT1987329	hsa-miR-520g	CLIP-seq
MIRT1987330	hsa-miR-520h	CLIP-seq
MIRT2525416	hsa-miR-548m	CLIP-seq
MIRT2525417	hsa-miR-550b	CLIP-seq
MIRT2221771	hsa-miR-562	CLIP-seq
MIRT2525418	hsa-miR-574-3p	CLIP-seq
MIRT1987332	hsa-miR-577	CLIP-seq
MIRT2525419	hsa-miR-591	CLIP-seq
MIRT969450	hsa-miR-595	CLIP-seq
MIRT2437090	hsa-miR-607	CLIP-seq
MIRT2525420	hsa-miR-610	CLIP-seq
MIRT2525421	hsa-miR-628-3p	CLIP-seq
MIRT969453	hsa-miR-648	CLIP-seq
MIRT969456	hsa-miR-764	CLIP-seq
MIRT1987334	hsa-miR-93	CLIP-seq
MIRT969352	hsa-miR-105	CLIP-seq
MIRT1987254	hsa-miR-106a	CLIP-seq
MIRT1987255	hsa-miR-106b	CLIP-seq
MIRT969358	hsa-miR-125a-3p	CLIP-seq
MIRT2525409	hsa-miR-1265	CLIP-seq
MIRT2221737	hsa-miR-1302	CLIP-seq
MIRT2525410	hsa-miR-136	CLIP-seq
MIRT1987261	hsa-miR-142-5p	CLIP-seq
MIRT1987262	hsa-miR-150	CLIP-seq
MIRT1987263	hsa-miR-17	CLIP-seq
MIRT2680283	hsa-miR-188-5p	CLIP-seq
MIRT2221740	hsa-miR-1976	CLIP-seq
MIRT1987264	hsa-miR-208a	CLIP-seq
MIRT1987265	hsa-miR-208b	CLIP-seq
MIRT1987266	hsa-miR-20a	CLIP-seq
MIRT1987267	hsa-miR-20b	CLIP-seq
MIRT2437084	hsa-miR-23a	CLIP-seq
MIRT2437085	hsa-miR-23b	CLIP-seq
MIRT2437086	hsa-miR-23c	CLIP-seq
MIRT2221743	hsa-miR-2467-5p	CLIP-seq
MIRT1987272	hsa-miR-302a	CLIP-seq
MIRT1987273	hsa-miR-302b	CLIP-seq
MIRT1987274	hsa-miR-302c	CLIP-seq
MIRT1987275	hsa-miR-302d	CLIP-seq
MIRT1987276	hsa-miR-302e	CLIP-seq
MIRT1987277	hsa-miR-3117-5p	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT2221747	hsa-miR-3182	CLIP-seq
MIRT2221748	hsa-miR-3188	CLIP-seq
MIRT2525412	hsa-miR-3658	CLIP-seq
MIRT2525413	hsa-miR-3667-5p	CLIP-seq
MIRT2437087	hsa-miR-3671	CLIP-seq
MIRT1987283	hsa-miR-372	CLIP-seq
MIRT1987284	hsa-miR-373	CLIP-seq
MIRT969394	hsa-miR-3919	CLIP-seq
MIRT969395	hsa-miR-3934	CLIP-seq
MIRT2221753	hsa-miR-3975	CLIP-seq
MIRT2221755	hsa-miR-4279	CLIP-seq
MIRT2221757	hsa-miR-4298	CLIP-seq
MIRT2437088	hsa-miR-4307	CLIP-seq
MIRT1987294	hsa-miR-4312	CLIP-seq
MIRT969407	hsa-miR-4454	CLIP-seq
MIRT2221761	hsa-miR-4662a-5p	CLIP-seq
MIRT2221762	hsa-miR-4663	CLIP-seq
MIRT2437089	hsa-miR-4666-5p	CLIP-seq
MIRT2525414	hsa-miR-4699-3p	CLIP-seq
MIRT2221763	hsa-miR-4722-3p	CLIP-seq
MIRT1987306	hsa-miR-4731-5p	CLIP-seq
MIRT1987307	hsa-miR-4740-3p	CLIP-seq
MIRT969422	hsa-miR-4756-3p	CLIP-seq
MIRT1987308	hsa-miR-4757-5p	CLIP-seq
MIRT2525415	hsa-miR-4760-5p	CLIP-seq
MIRT969425	hsa-miR-4763-5p	CLIP-seq
MIRT2221768	hsa-miR-4803	CLIP-seq
MIRT2221769	hsa-miR-485-5p	CLIP-seq
MIRT1987315	hsa-miR-498	CLIP-seq
MIRT1987316	hsa-miR-499-5p	CLIP-seq
MIRT1987319	hsa-miR-512-3p	CLIP-seq
MIRT1987323	hsa-miR-519d	CLIP-seq
MIRT1987324	hsa-miR-520a-3p	CLIP-seq
MIRT1987325	hsa-miR-520b	CLIP-seq
MIRT1987326	hsa-miR-520c-3p	CLIP-seq
MIRT1987327	hsa-miR-520d-3p	CLIP-seq
MIRT1987328	hsa-miR-520e	CLIP-seq
MIRT1987329	hsa-miR-520g	CLIP-seq
MIRT1987330	hsa-miR-520h	CLIP-seq
MIRT2525417	hsa-miR-550b	CLIP-seq
MIRT2525418	hsa-miR-574-3p	CLIP-seq
MIRT1987332	hsa-miR-577	CLIP-seq
MIRT2525419	hsa-miR-591	CLIP-seq
MIRT969450	hsa-miR-595	CLIP-seq
MIRT2437090	hsa-miR-607	CLIP-seq
MIRT2525420	hsa-miR-610	CLIP-seq
MIRT969453	hsa-miR-648	CLIP-seq
MIRT969456	hsa-miR-764	CLIP-seq
MIRT1987334	hsa-miR-93	CLIP-seq

Gene ontology (GO) Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19240031, 21343306, 22119785, 30021884, 30352685, 33961781
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16835267, 19240031
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0015485	Function	Cholesterol binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	24019521
GO:0032933	Process	SREBP signaling pathway	IBA
GO:0032933	Process	SREBP signaling pathway	IEA
GO:0032933	Process	SREBP signaling pathway	IMP	24217618
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0032991	Component	Protein-containing complex	IEA
GO:0036503	Process	ERAD pathway	IDA	19240031
GO:0036503	Process	ERAD pathway	IEA
GO:0045121	Component	Membrane raft	IDA	25204797
GO:0045121	Component	Membrane raft	NAS	34572057
GO:0045540	Process	Regulation of cholesterol biosynthetic process	IDA	24217618
GO:0045541	Process	Negative regulation of cholesterol biosynthetic process	IEA
GO:0045541	Process	Negative regulation of cholesterol biosynthetic process	IMP	24217618
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IEA
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IMP	24217618

Other IDs

• MIM: 611605
• HGNC: 1356
• e!Ensembl: ENSG00000147475

Protein

• UniProt ID: O94905
• Protein name: Erlin-2 (Endoplasmic reticulum lipid raft-associated protein 2) (Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2) (SPFH domain-containing protein 2)
• Protein function: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:17502376, PubMed:19240031). Promotes sterol-accelerated ERAD of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01145	Band_7	24 → 216	SPFH domain / Band 7 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10449903}.
• Sequence:

  MAQLGAVVAVASSFFCASLFSAVHKIEEGHIGVYYRGGALLTSTSGPGFHLMLPFITSYK
  SVQTTLQTDEVKNVPCGTSGGVMIYFDRIEVVNFLVPNAVYDIVKNYTADYDKALIFNKI
  HHELNQFCSVHTLQEVYIELFDQIDENLKLALQQDLTSMAPGLVIQAVRVTKPNIPEAIR
  RNYELMESEKTKLLIAAQKQKVVEKEAETERKKALIEAEKVAQVAEITYGQKVMEKETEK
  KISEIEDAAFLAREKAKADAECYTAMKIAEANKLKLTPEYLQLMKYKAIASNSKIYFGKD
  IPNMFMDSAGSVSKQFEGLADKLSFGLEDEPLETATKEN

• Sequence length: 339

Pathways

Reactome Pathway

ABC-family proteins mediated transport

Signaling by FGFR1 in disease

Defective CFTR causes cystic fibrosis

Signaling by plasma membrane FGFR1 fusions

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the nervous system	Likely pathogenic	rs1803175282	RCV001814329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs1802811311, rs2129680761, rs2129710278	RCV001391375 RCV001391376 RCV001391377	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 18	Pathogenic; Likely pathogenic	rs2487278624, rs2487332031, rs587776893, rs1554517382, rs398123002, rs2129726150, rs779335579, rs2129728774	RCV003327253 RCV004556099 RCV000023901 RCV000499431 RCV000077785 RCV001391378 RCV001391379 RCV001391380	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia	Pathogenic; Likely pathogenic	rs1393816662, rs751227210, rs2487294702, rs2487326803, rs2487305222, rs2487289295, rs1554517327, rs1585896928, rs1802811311, rs1052410160, rs1803173923, rs1803294545	RCV001383929 RCV001959693 RCV002791092 RCV002851165 RCV003588496 RCV003752225 RCV000544936 RCV000791854 RCV001065814 RCV001035446 RCV001229289 RCV001233395	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia 18a, autosomal dominant	Pathogenic; Likely pathogenic	rs2487305557, rs1554517327, rs1803173923	RCV003334365 RCV003334352 RCV005232194	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (14)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 18	—	Orphanet	21330303	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERLIN2-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	21937992	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	21937992	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraparesis	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 18B, AUTOSOMAL RECESSIVE	—	HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia, autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	21796390,23109142,22554690,23897027,27824013,23109145,25977983,29528531,23085305,28832565,21330303	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (60)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	32883232	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 18	Spastic Paraplegia	Orphanet			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22681620, 22690709, 30016800		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22681620, 37831636	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22690709	Stimulate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22681620	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22690709	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37575065	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CYP2U1 3 shared diseasesSpastic paraplegia, Hereditary spastic paraplegia, Congenital neurologic anomalies 6 shared evidence sourcesOrphanet (Spastic paraplegia), Disgenet (Spastic paraplegia), CTD (Spastic paraplegia), Disgenet (Hereditary spastic paraplegia), Disgenet (Congenital neurologic anomalies), HPO (Spastic paraplegia) Related via 3 shared diseases including Spastic paraplegia, Hereditary spastic paraplegia — evidence mostly Disgenet. REEP2 2 shared diseasesSpastic paraplegia, Hereditary spastic paraplegia 6 shared evidence sourcesOrphanet (Spastic paraplegia), Disgenet (Spastic paraplegia), CTD (Spastic paraplegia), ClinVar (Spastic paraplegia), Disgenet (Hereditary spastic paraplegia), HPO (Spastic paraplegia) Related via 2 shared diseases including Spastic paraplegia, Hereditary spastic paraplegia — evidence mostly Disgenet. ARL6IP1 2 shared diseasesSpastic paraplegia, Hereditary spastic paraplegia 5 shared evidence sourcesOrphanet (Spastic paraplegia), Disgenet (Spastic paraplegia), CTD (Spastic paraplegia), Disgenet (Hereditary spastic paraplegia), HPO (Spastic paraplegia) Related via 2 shared diseases including Spastic paraplegia, Hereditary spastic paraplegia — evidence mostly Disgenet. ERLIN1 2 shared diseasesSpastic paraplegia, Hereditary spastic paraplegia 2 shared pathwaysABC-family proteins mediated transport, Defective CFTR causes cystic fibrosis 5 shared evidence sourcesOrphanet (Spastic paraplegia), Disgenet (Spastic paraplegia), CTD (Spastic paraplegia), Disgenet (Hereditary spastic paraplegia), HPO (Spastic paraplegia) Related via 2 shared diseases including Spastic paraplegia, Hereditary spastic paraplegia — evidence mostly Disgenet. DDHD1 2 shared diseasesSpastic paraplegia, Hereditary spastic paraplegia 5 shared evidence sourcesOrphanet (Spastic paraplegia), Disgenet (Spastic paraplegia), CTD (Spastic paraplegia), Disgenet (Hereditary spastic paraplegia), HPO (Spastic paraplegia) Related via 2 shared diseases including Spastic paraplegia, Hereditary spastic paraplegia — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CYP2U1	3	["Spastic paraplegia","Hereditary spastic paraplegia","Congenital neurologic anomalies"]	0	[]	6	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","CTD (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)","Disgenet (Congenital neurologic anomalies)","HPO (Spastic paraplegia)"]
REEP2	2	["Spastic paraplegia","Hereditary spastic paraplegia"]	0	[]	6	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","CTD (Spastic paraplegia)","ClinVar (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)","HPO (Spastic paraplegia)"]
ARL6IP1	2	["Spastic paraplegia","Hereditary spastic paraplegia"]	0	[]	5	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","CTD (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)","HPO (Spastic paraplegia)"]
ERLIN1	2	["Spastic paraplegia","Hereditary spastic paraplegia"]	2	["ABC-family proteins mediated transport","Defective CFTR causes cystic fibrosis"]	5	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","CTD (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)","HPO (Spastic paraplegia)"]
DDHD1	2	["Spastic paraplegia","Hereditary spastic paraplegia"]	0	[]	5	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","CTD (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)","HPO (Spastic paraplegia)"]

Diseases Linked via Similar Genes

Autism Linked via 3 of 5 related genesCYP2U1, ERLIN1, DDHD1 Amyotrophic lateral sclerosis Linked via 2 of 5 related genesREEP2, ERLIN1 Atrial fibrillation Linked via 2 of 5 related genesREEP2, ERLIN1 Schizophrenia Linked via 2 of 5 related genesREEP2, ERLIN1 Global developmental delay Linked via 1 of 5 related genesCYP2U1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Autism	3	["CYP2U1","ERLIN1","DDHD1"]
Amyotrophic lateral sclerosis	2	["REEP2","ERLIN1"]
Atrial fibrillation	2	["REEP2","ERLIN1"]
Schizophrenia	2	["REEP2","ERLIN1"]
Global developmental delay	1	["CYP2U1"]