TECPR2 (tectonin beta-propeller repeat containing 2)

Gene

• Entrez ID: 9895
• Gene name: Tectonin beta-propeller repeat containing 2
• Gene symbol: TECPR2
• Synonyms (NCBI Gene): HSAN9, KIAA0329, SPG49
• Chromosome: 14
• Chromosome location: 14q32.31
• Summary: The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expressio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55716270	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs199845217	C>A,G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs572609303	AGAAGA>-,AGA,AGAAGAAGA,AGAAGAAGAAGAAGA	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs750908377	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs751970061	T>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs772483312	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043167	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1359602238	AAGGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1364819755	->TGTT	Pathogenic	Frameshift variant, coding sequence variant
rs1555451465	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567314662	AGGTGAGCCTTGCTTTG>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1595112176	ACTCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1595123894	CACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049520	hsa-miR-92a-3p	CLASH	23622248
MIRT693423	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT693424	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT693422	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT693421	hsa-miR-6728-3p	HITS-CLIP	23313552
MIRT693420	hsa-miR-93-3p	HITS-CLIP	23313552
MIRT693419	hsa-miR-3692-5p	HITS-CLIP	23313552
MIRT693418	hsa-miR-2682-3p	HITS-CLIP	23313552
MIRT693417	hsa-miR-6781-3p	HITS-CLIP	23313552
MIRT693416	hsa-miR-661	HITS-CLIP	23313552
MIRT693415	hsa-miR-6882-3p	HITS-CLIP	23313552
MIRT693414	hsa-miR-6829-5p	HITS-CLIP	23313552
MIRT693413	hsa-miR-6071	HITS-CLIP	23313552
MIRT693412	hsa-miR-4715-3p	HITS-CLIP	23313552
MIRT663318	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT663317	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT663316	hsa-miR-1470	HITS-CLIP	23824327
MIRT663315	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT663314	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT663313	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT663312	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT663311	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT663310	hsa-miR-4469	HITS-CLIP	23824327
MIRT663309	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT663308	hsa-miR-4287	HITS-CLIP	23824327
MIRT663307	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT663306	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT663305	hsa-miR-3920	HITS-CLIP	23824327
MIRT663304	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT663303	hsa-miR-600	HITS-CLIP	23824327
MIRT663302	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT663301	hsa-miR-323b-5p	HITS-CLIP	23824327
MIRT663300	hsa-miR-410-5p	HITS-CLIP	23824327
MIRT663299	hsa-miR-494-5p	HITS-CLIP	23824327
MIRT663298	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT663297	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT663296	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT663295	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT663294	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT663293	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT663292	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT663291	hsa-miR-4507	HITS-CLIP	23824327
MIRT663290	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT663289	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT663288	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT663287	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT466482	hsa-miR-216a-5p	HITS-CLIP	24906430
MIRT466481	hsa-miR-216b-5p	HITS-CLIP	24906430
MIRT466480	hsa-miR-362-5p	HITS-CLIP	24906430
MIRT466479	hsa-miR-500b-5p	HITS-CLIP	24906430
MIRT466478	hsa-miR-5196-3p	HITS-CLIP	24906430
MIRT466477	hsa-miR-4793-5p	HITS-CLIP	24906430
MIRT466475	hsa-miR-6132	HITS-CLIP	24906430
MIRT466474	hsa-miR-6836-5p	HITS-CLIP	24906430
MIRT466473	hsa-miR-1909-3p	HITS-CLIP	24906430
MIRT466472	hsa-miR-6722-3p	HITS-CLIP	24906430
MIRT466471	hsa-miR-6508-3p	HITS-CLIP	24906430
MIRT466470	hsa-miR-6762-5p	HITS-CLIP	24906430
MIRT466469	hsa-miR-6845-5p	HITS-CLIP	24906430
MIRT466468	hsa-miR-3944-5p	HITS-CLIP	24906430
MIRT466467	hsa-miR-143-5p	HITS-CLIP	24906430
MIRT553689	hsa-miR-4737	HITS-CLIP	24906430
MIRT466482	hsa-miR-216a-5p	PAR-CLIP	21572407
MIRT466481	hsa-miR-216b-5p	PAR-CLIP	21572407
MIRT466480	hsa-miR-362-5p	PAR-CLIP	21572407
MIRT466479	hsa-miR-500b-5p	PAR-CLIP	21572407
MIRT466478	hsa-miR-5196-3p	PAR-CLIP	21572407
MIRT466477	hsa-miR-4793-5p	PAR-CLIP	21572407
MIRT466476	hsa-miR-4742-3p	PAR-CLIP	21572407
MIRT466475	hsa-miR-6132	PAR-CLIP	21572407
MIRT466474	hsa-miR-6836-5p	PAR-CLIP	21572407
MIRT466473	hsa-miR-1909-3p	PAR-CLIP	21572407
MIRT466472	hsa-miR-6722-3p	PAR-CLIP	21572407
MIRT466471	hsa-miR-6508-3p	PAR-CLIP	21572407
MIRT466470	hsa-miR-6762-5p	PAR-CLIP	21572407
MIRT466469	hsa-miR-6845-5p	PAR-CLIP	21572407
MIRT466468	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT466467	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT553689	hsa-miR-4737	PAR-CLIP	21572407
MIRT466482	hsa-miR-216a-5p	PAR-CLIP	23592263
MIRT466481	hsa-miR-216b-5p	PAR-CLIP	23592263
MIRT466480	hsa-miR-362-5p	PAR-CLIP	23592263
MIRT466479	hsa-miR-500b-5p	PAR-CLIP	23592263
MIRT466478	hsa-miR-5196-3p	PAR-CLIP	23592263
MIRT466477	hsa-miR-4793-5p	PAR-CLIP	23592263
MIRT466476	hsa-miR-4742-3p	PAR-CLIP	23592263
MIRT466475	hsa-miR-6132	PAR-CLIP	23592263
MIRT466474	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT466473	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT466472	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT466471	hsa-miR-6508-3p	PAR-CLIP	23592263
MIRT466470	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT466469	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT466468	hsa-miR-3944-5p	PAR-CLIP	23592263
MIRT466467	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT727377	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT727378	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT727376	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT727375	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT049520	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT069314	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT069309	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT466467	hsa-miR-143-5p	PAR-CLIP	26701625
MIRT466467	hsa-miR-143-5p	PAR-CLIP	26701625
MIRT466473	hsa-miR-1909-3p	PAR-CLIP	26701625
MIRT466473	hsa-miR-1909-3p	PAR-CLIP	26701625
MIRT466482	hsa-miR-216a-5p	PAR-CLIP	26701625
MIRT466482	hsa-miR-216a-5p	PAR-CLIP	26701625
MIRT466481	hsa-miR-216b-5p	PAR-CLIP	26701625
MIRT466481	hsa-miR-216b-5p	PAR-CLIP	26701625
MIRT466480	hsa-miR-362-5p	PAR-CLIP	26701625
MIRT466468	hsa-miR-3944-5p	PAR-CLIP	26701625
MIRT466468	hsa-miR-3944-5p	PAR-CLIP	26701625
MIRT466477	hsa-miR-4793-5p	PAR-CLIP	26701625
MIRT466479	hsa-miR-500b-5p	PAR-CLIP	26701625
MIRT466478	hsa-miR-5196-3p	PAR-CLIP	26701625
MIRT466475	hsa-miR-6132	PAR-CLIP	26701625
MIRT466475	hsa-miR-6132	PAR-CLIP	26701625
MIRT466471	hsa-miR-6508-3p	PAR-CLIP	26701625
MIRT466471	hsa-miR-6508-3p	PAR-CLIP	26701625
MIRT466472	hsa-miR-6722-3p	PAR-CLIP	26701625
MIRT466472	hsa-miR-6722-3p	PAR-CLIP	26701625
MIRT466470	hsa-miR-6762-5p	PAR-CLIP	26701625
MIRT466470	hsa-miR-6762-5p	PAR-CLIP	26701625
MIRT466474	hsa-miR-6836-5p	PAR-CLIP	26701625
MIRT466474	hsa-miR-6836-5p	PAR-CLIP	26701625
MIRT466469	hsa-miR-6845-5p	PAR-CLIP	26701625
MIRT466469	hsa-miR-6845-5p	PAR-CLIP	26701625
MIRT693423	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT693424	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT693422	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT693421	hsa-miR-6728-3p	HITS-CLIP	23313552
MIRT693420	hsa-miR-93-3p	HITS-CLIP	23313552
MIRT693419	hsa-miR-3692-5p	HITS-CLIP	23313552
MIRT693418	hsa-miR-2682-3p	HITS-CLIP	23313552
MIRT693417	hsa-miR-6781-3p	HITS-CLIP	23313552
MIRT693416	hsa-miR-661	HITS-CLIP	23313552
MIRT693415	hsa-miR-6882-3p	HITS-CLIP	23313552
MIRT693414	hsa-miR-6829-5p	HITS-CLIP	23313552
MIRT693413	hsa-miR-6071	HITS-CLIP	23313552
MIRT693412	hsa-miR-4715-3p	HITS-CLIP	23313552
MIRT663318	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT663317	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT663316	hsa-miR-1470	HITS-CLIP	23824327
MIRT663315	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT663314	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT663313	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT663312	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT663311	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT663310	hsa-miR-4469	HITS-CLIP	23824327
MIRT663309	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT663308	hsa-miR-4287	HITS-CLIP	23824327
MIRT663307	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT663306	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT663305	hsa-miR-3920	HITS-CLIP	23824327
MIRT663304	hsa-miR-29a-5p	HITS-CLIP	23824327
MIRT663303	hsa-miR-600	HITS-CLIP	23824327
MIRT663302	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT663301	hsa-miR-323b-5p	HITS-CLIP	23824327
MIRT663300	hsa-miR-410-5p	HITS-CLIP	23824327
MIRT663299	hsa-miR-494-5p	HITS-CLIP	23824327
MIRT663298	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT663297	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT663296	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT663295	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT663294	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT663293	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT663292	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT663291	hsa-miR-4507	HITS-CLIP	23824327
MIRT663290	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT663289	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT663288	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT663287	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT466482	hsa-miR-216a-5p	PAR-CLIP	21572407
MIRT466481	hsa-miR-216b-5p	PAR-CLIP	21572407
MIRT466480	hsa-miR-362-5p	PAR-CLIP	21572407
MIRT466479	hsa-miR-500b-5p	PAR-CLIP	21572407
MIRT466478	hsa-miR-5196-3p	PAR-CLIP	21572407
MIRT466477	hsa-miR-4793-5p	PAR-CLIP	21572407
MIRT466476	hsa-miR-4742-3p	PAR-CLIP	21572407
MIRT466475	hsa-miR-6132	PAR-CLIP	21572407
MIRT466474	hsa-miR-6836-5p	PAR-CLIP	21572407
MIRT466473	hsa-miR-1909-3p	PAR-CLIP	21572407
MIRT466472	hsa-miR-6722-3p	PAR-CLIP	21572407
MIRT466471	hsa-miR-6508-3p	PAR-CLIP	21572407
MIRT466470	hsa-miR-6762-5p	PAR-CLIP	21572407
MIRT466469	hsa-miR-6845-5p	PAR-CLIP	21572407
MIRT466468	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT466467	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT553689	hsa-miR-4737	PAR-CLIP	21572407
MIRT466482	hsa-miR-216a-5p	PAR-CLIP	23592263
MIRT466481	hsa-miR-216b-5p	PAR-CLIP	23592263
MIRT466480	hsa-miR-362-5p	PAR-CLIP	23592263
MIRT466479	hsa-miR-500b-5p	PAR-CLIP	23592263
MIRT466478	hsa-miR-5196-3p	PAR-CLIP	23592263
MIRT466477	hsa-miR-4793-5p	PAR-CLIP	23592263
MIRT466476	hsa-miR-4742-3p	PAR-CLIP	23592263
MIRT466475	hsa-miR-6132	PAR-CLIP	23592263
MIRT466474	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT466473	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT466472	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT466471	hsa-miR-6508-3p	PAR-CLIP	23592263
MIRT466470	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT466469	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT466468	hsa-miR-3944-5p	PAR-CLIP	23592263
MIRT466467	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT1417644	hsa-let-7a	CLIP-seq
MIRT1417645	hsa-let-7b	CLIP-seq
MIRT1417646	hsa-let-7c	CLIP-seq
MIRT1417647	hsa-let-7d	CLIP-seq
MIRT1417648	hsa-let-7e	CLIP-seq
MIRT1417649	hsa-let-7f	CLIP-seq
MIRT1417650	hsa-let-7g	CLIP-seq
MIRT1417651	hsa-let-7i	CLIP-seq
MIRT1417652	hsa-miR-103a	CLIP-seq
MIRT1417653	hsa-miR-107	CLIP-seq
MIRT1417654	hsa-miR-122	CLIP-seq
MIRT1417655	hsa-miR-1224-3p	CLIP-seq
MIRT1417656	hsa-miR-1237	CLIP-seq
MIRT1417657	hsa-miR-124	CLIP-seq
MIRT1417658	hsa-miR-1248	CLIP-seq
MIRT1417659	hsa-miR-1260	CLIP-seq
MIRT1417660	hsa-miR-1260b	CLIP-seq
MIRT1417661	hsa-miR-1262	CLIP-seq
MIRT1417662	hsa-miR-1265	CLIP-seq
MIRT1417663	hsa-miR-1272	CLIP-seq
MIRT1417664	hsa-miR-1280	CLIP-seq
MIRT1417665	hsa-miR-1294	CLIP-seq
MIRT1417666	hsa-miR-1299	CLIP-seq
MIRT1417667	hsa-miR-1302	CLIP-seq
MIRT1417668	hsa-miR-1322	CLIP-seq
MIRT1417669	hsa-miR-1343	CLIP-seq
MIRT1417670	hsa-miR-137	CLIP-seq
MIRT1417671	hsa-miR-139-5p	CLIP-seq
MIRT1417672	hsa-miR-15a	CLIP-seq
MIRT1417673	hsa-miR-15b	CLIP-seq
MIRT1417674	hsa-miR-16	CLIP-seq
MIRT1417675	hsa-miR-1909	CLIP-seq
MIRT1417676	hsa-miR-192	CLIP-seq
MIRT1417677	hsa-miR-195	CLIP-seq
MIRT1417678	hsa-miR-202	CLIP-seq
MIRT1417679	hsa-miR-203	CLIP-seq
MIRT1417680	hsa-miR-2054	CLIP-seq
MIRT1417681	hsa-miR-215	CLIP-seq
MIRT1417682	hsa-miR-216a	CLIP-seq
MIRT1417683	hsa-miR-216b	CLIP-seq
MIRT1417684	hsa-miR-2392	CLIP-seq
MIRT1417685	hsa-miR-25	CLIP-seq
MIRT1417686	hsa-miR-2964a-5p	CLIP-seq
MIRT1417687	hsa-miR-302f	CLIP-seq
MIRT1417688	hsa-miR-3065-5p	CLIP-seq
MIRT1417689	hsa-miR-3074-5p	CLIP-seq
MIRT1417690	hsa-miR-3135b	CLIP-seq
MIRT1417691	hsa-miR-3148	CLIP-seq
MIRT1417692	hsa-miR-3149	CLIP-seq
MIRT1417693	hsa-miR-3150b-3p	CLIP-seq
MIRT1417694	hsa-miR-3167	CLIP-seq
MIRT1417695	hsa-miR-3192	CLIP-seq
MIRT1417696	hsa-miR-3194-3p	CLIP-seq
MIRT1417697	hsa-miR-3195	CLIP-seq
MIRT1417698	hsa-miR-3197	CLIP-seq
MIRT1417699	hsa-miR-32	CLIP-seq
MIRT1417700	hsa-miR-320a	CLIP-seq
MIRT1417701	hsa-miR-320b	CLIP-seq
MIRT1417702	hsa-miR-320c	CLIP-seq
MIRT1417703	hsa-miR-320d	CLIP-seq
MIRT1417704	hsa-miR-320e	CLIP-seq
MIRT1417705	hsa-miR-330-3p	CLIP-seq
MIRT1417706	hsa-miR-345	CLIP-seq
MIRT1417707	hsa-miR-3611	CLIP-seq
MIRT1417708	hsa-miR-363	CLIP-seq
MIRT1417709	hsa-miR-3650	CLIP-seq
MIRT1417710	hsa-miR-3652	CLIP-seq
MIRT1417711	hsa-miR-367	CLIP-seq
MIRT1417712	hsa-miR-3686	CLIP-seq
MIRT1417713	hsa-miR-3945	CLIP-seq
MIRT1417714	hsa-miR-424	CLIP-seq
MIRT1417715	hsa-miR-4253	CLIP-seq
MIRT1417716	hsa-miR-4257	CLIP-seq
MIRT1417717	hsa-miR-4270	CLIP-seq
MIRT1417718	hsa-miR-4298	CLIP-seq
MIRT1417719	hsa-miR-4304	CLIP-seq
MIRT1417720	hsa-miR-431	CLIP-seq
MIRT1417721	hsa-miR-4310	CLIP-seq
MIRT1417722	hsa-miR-4314	CLIP-seq
MIRT1417723	hsa-miR-4316	CLIP-seq
MIRT1417724	hsa-miR-4325	CLIP-seq
MIRT1417725	hsa-miR-4422	CLIP-seq
MIRT1417726	hsa-miR-4429	CLIP-seq
MIRT1417727	hsa-miR-4430	CLIP-seq
MIRT1417728	hsa-miR-4441	CLIP-seq
MIRT1417729	hsa-miR-4448	CLIP-seq
MIRT1417730	hsa-miR-4458	CLIP-seq
MIRT1417731	hsa-miR-4500	CLIP-seq
MIRT1417732	hsa-miR-4520a-3p	CLIP-seq
MIRT1417733	hsa-miR-4520b-3p	CLIP-seq
MIRT1417734	hsa-miR-4529-3p	CLIP-seq
MIRT1417735	hsa-miR-4530	CLIP-seq
MIRT1417736	hsa-miR-4639-3p	CLIP-seq
MIRT1417737	hsa-miR-4646-5p	CLIP-seq
MIRT1417738	hsa-miR-4652-3p	CLIP-seq
MIRT1417739	hsa-miR-4659a-5p	CLIP-seq
MIRT1417740	hsa-miR-4659b-5p	CLIP-seq
MIRT1417741	hsa-miR-4663	CLIP-seq
MIRT1417742	hsa-miR-4678	CLIP-seq
MIRT1417743	hsa-miR-4684-3p	CLIP-seq
MIRT1417744	hsa-miR-4689	CLIP-seq
MIRT1417745	hsa-miR-4701-3p	CLIP-seq
MIRT1417746	hsa-miR-4708-3p	CLIP-seq
MIRT1417747	hsa-miR-4710	CLIP-seq
MIRT1417748	hsa-miR-4714-5p	CLIP-seq
MIRT1417749	hsa-miR-4729	CLIP-seq
MIRT1417750	hsa-miR-4733-3p	CLIP-seq
MIRT1417751	hsa-miR-4746-3p	CLIP-seq
MIRT1417752	hsa-miR-4776-3p	CLIP-seq
MIRT1417753	hsa-miR-4782-5p	CLIP-seq
MIRT1417754	hsa-miR-4784	CLIP-seq
MIRT1417755	hsa-miR-4786-3p	CLIP-seq
MIRT1417756	hsa-miR-4786-5p	CLIP-seq
MIRT1417757	hsa-miR-4792	CLIP-seq
MIRT1417758	hsa-miR-4795-3p	CLIP-seq
MIRT1417759	hsa-miR-485-5p	CLIP-seq
MIRT1417760	hsa-miR-491-3p	CLIP-seq
MIRT1417761	hsa-miR-497	CLIP-seq
MIRT1417762	hsa-miR-500b	CLIP-seq
MIRT1417763	hsa-miR-506	CLIP-seq
MIRT1417764	hsa-miR-516b	CLIP-seq
MIRT1417765	hsa-miR-520d-5p	CLIP-seq
MIRT1417766	hsa-miR-524-5p	CLIP-seq
MIRT1417767	hsa-miR-532-3p	CLIP-seq
MIRT1417768	hsa-miR-568	CLIP-seq
MIRT1417769	hsa-miR-578	CLIP-seq
MIRT1417770	hsa-miR-579	CLIP-seq
MIRT1417771	hsa-miR-595	CLIP-seq
MIRT1417772	hsa-miR-624	CLIP-seq
MIRT1417773	hsa-miR-628-5p	CLIP-seq
MIRT1417774	hsa-miR-629	CLIP-seq
MIRT1417775	hsa-miR-651	CLIP-seq
MIRT1417776	hsa-miR-656	CLIP-seq
MIRT1417777	hsa-miR-668	CLIP-seq
MIRT1417778	hsa-miR-875-3p	CLIP-seq
MIRT1417779	hsa-miR-876-5p	CLIP-seq
MIRT1417780	hsa-miR-888	CLIP-seq
MIRT1417781	hsa-miR-889	CLIP-seq
MIRT1417782	hsa-miR-92a	CLIP-seq
MIRT1417783	hsa-miR-92b	CLIP-seq
MIRT1417784	hsa-miR-98	CLIP-seq
MIRT1417675	hsa-miR-1909	CLIP-seq
MIRT1417682	hsa-miR-216a	CLIP-seq
MIRT1417683	hsa-miR-216b	CLIP-seq
MIRT1554543	hsa-miR-450a	CLIP-seq
MIRT1417762	hsa-miR-500b	CLIP-seq
MIRT1417675	hsa-miR-1909	CLIP-seq
MIRT1417682	hsa-miR-216a	CLIP-seq
MIRT1417683	hsa-miR-216b	CLIP-seq
MIRT1417743	hsa-miR-4684-3p	CLIP-seq
MIRT1417762	hsa-miR-500b	CLIP-seq
MIRT1417661	hsa-miR-1262	CLIP-seq
MIRT1417665	hsa-miR-1294	CLIP-seq
MIRT1417671	hsa-miR-139-5p	CLIP-seq
MIRT1417675	hsa-miR-1909	CLIP-seq
MIRT2125396	hsa-miR-1976	CLIP-seq
MIRT2125397	hsa-miR-204	CLIP-seq
MIRT2125398	hsa-miR-211	CLIP-seq
MIRT1417682	hsa-miR-216a	CLIP-seq
MIRT1417683	hsa-miR-216b	CLIP-seq
MIRT1417685	hsa-miR-25	CLIP-seq
MIRT1417687	hsa-miR-302f	CLIP-seq
MIRT1417692	hsa-miR-3149	CLIP-seq
MIRT1417693	hsa-miR-3150b-3p	CLIP-seq
MIRT1417697	hsa-miR-3195	CLIP-seq
MIRT1417698	hsa-miR-3197	CLIP-seq
MIRT1417699	hsa-miR-32	CLIP-seq
MIRT1417708	hsa-miR-363	CLIP-seq
MIRT1417709	hsa-miR-3650	CLIP-seq
MIRT1417711	hsa-miR-367	CLIP-seq
MIRT1417716	hsa-miR-4257	CLIP-seq
MIRT1417723	hsa-miR-4316	CLIP-seq
MIRT1417724	hsa-miR-4325	CLIP-seq
MIRT1417725	hsa-miR-4422	CLIP-seq
MIRT2125399	hsa-miR-4446-5p	CLIP-seq
MIRT1417729	hsa-miR-4448	CLIP-seq
MIRT1417739	hsa-miR-4659a-5p	CLIP-seq
MIRT1417740	hsa-miR-4659b-5p	CLIP-seq
MIRT1417743	hsa-miR-4684-3p	CLIP-seq
MIRT1417744	hsa-miR-4689	CLIP-seq
MIRT1417745	hsa-miR-4701-3p	CLIP-seq
MIRT1417746	hsa-miR-4708-3p	CLIP-seq
MIRT2125400	hsa-miR-4708-5p	CLIP-seq
MIRT1417747	hsa-miR-4710	CLIP-seq
MIRT2125401	hsa-miR-4755-5p	CLIP-seq
MIRT1417752	hsa-miR-4776-3p	CLIP-seq
MIRT1417754	hsa-miR-4784	CLIP-seq
MIRT1417759	hsa-miR-485-5p	CLIP-seq
MIRT1417762	hsa-miR-500b	CLIP-seq
MIRT1417768	hsa-miR-568	CLIP-seq
MIRT2125402	hsa-miR-623	CLIP-seq
MIRT1417774	hsa-miR-629	CLIP-seq
MIRT1417782	hsa-miR-92a	CLIP-seq
MIRT1417783	hsa-miR-92b	CLIP-seq
MIRT2347624	hsa-miR-1200	CLIP-seq
MIRT2347625	hsa-miR-1203	CLIP-seq
MIRT1417654	hsa-miR-122	CLIP-seq
MIRT2347626	hsa-miR-1234	CLIP-seq
MIRT1417657	hsa-miR-124	CLIP-seq
MIRT1417661	hsa-miR-1262	CLIP-seq
MIRT2347627	hsa-miR-1285	CLIP-seq
MIRT2347628	hsa-miR-1297	CLIP-seq
MIRT2347629	hsa-miR-1301	CLIP-seq
MIRT1417669	hsa-miR-1343	CLIP-seq
MIRT1417671	hsa-miR-139-5p	CLIP-seq
MIRT2347630	hsa-miR-147	CLIP-seq
MIRT2347631	hsa-miR-148a	CLIP-seq
MIRT2347632	hsa-miR-148b	CLIP-seq
MIRT2347633	hsa-miR-152	CLIP-seq
MIRT1417675	hsa-miR-1909	CLIP-seq
MIRT1417676	hsa-miR-192	CLIP-seq
MIRT2125397	hsa-miR-204	CLIP-seq
MIRT1417680	hsa-miR-2054	CLIP-seq
MIRT2125398	hsa-miR-211	CLIP-seq
MIRT1417681	hsa-miR-215	CLIP-seq
MIRT1417682	hsa-miR-216a	CLIP-seq
MIRT1417683	hsa-miR-216b	CLIP-seq
MIRT2347634	hsa-miR-22	CLIP-seq
MIRT2347635	hsa-miR-24	CLIP-seq
MIRT1417685	hsa-miR-25	CLIP-seq
MIRT2347636	hsa-miR-26a	CLIP-seq
MIRT2347637	hsa-miR-26b	CLIP-seq
MIRT1417687	hsa-miR-302f	CLIP-seq
MIRT1417688	hsa-miR-3065-5p	CLIP-seq
MIRT2347638	hsa-miR-3117-3p	CLIP-seq
MIRT1417690	hsa-miR-3135b	CLIP-seq
MIRT1417692	hsa-miR-3149	CLIP-seq
MIRT1417693	hsa-miR-3150b-3p	CLIP-seq
MIRT2347639	hsa-miR-3155	CLIP-seq
MIRT2347640	hsa-miR-3155b	CLIP-seq
MIRT1417694	hsa-miR-3167	CLIP-seq
MIRT2347641	hsa-miR-3169	CLIP-seq
MIRT2347642	hsa-miR-3187-5p	CLIP-seq
MIRT1417695	hsa-miR-3192	CLIP-seq
MIRT1417697	hsa-miR-3195	CLIP-seq
MIRT1417698	hsa-miR-3197	CLIP-seq
MIRT1417699	hsa-miR-32	CLIP-seq
MIRT2347643	hsa-miR-3610	CLIP-seq
MIRT1417707	hsa-miR-3611	CLIP-seq
MIRT1417708	hsa-miR-363	CLIP-seq
MIRT1417709	hsa-miR-3650	CLIP-seq
MIRT1417710	hsa-miR-3652	CLIP-seq
MIRT2347644	hsa-miR-3664-3p	CLIP-seq
MIRT1417711	hsa-miR-367	CLIP-seq
MIRT2347645	hsa-miR-3689a-3p	CLIP-seq
MIRT2347646	hsa-miR-3689c	CLIP-seq
MIRT2347647	hsa-miR-371-5p	CLIP-seq
MIRT2347648	hsa-miR-374c	CLIP-seq
MIRT2347649	hsa-miR-377	CLIP-seq
MIRT2347650	hsa-miR-378g	CLIP-seq
MIRT2347651	hsa-miR-3911	CLIP-seq
MIRT2347652	hsa-miR-3921	CLIP-seq
MIRT2347653	hsa-miR-3940-3p	CLIP-seq
MIRT2347654	hsa-miR-411	CLIP-seq
MIRT2347655	hsa-miR-4252	CLIP-seq
MIRT2347656	hsa-miR-4265	CLIP-seq
MIRT2347657	hsa-miR-4296	CLIP-seq
MIRT1417722	hsa-miR-4314	CLIP-seq
MIRT1417723	hsa-miR-4316	CLIP-seq
MIRT2347658	hsa-miR-4317	CLIP-seq
MIRT2347659	hsa-miR-4322	CLIP-seq
MIRT2347660	hsa-miR-4324	CLIP-seq
MIRT1417724	hsa-miR-4325	CLIP-seq
MIRT2347661	hsa-miR-4417	CLIP-seq
MIRT1417725	hsa-miR-4422	CLIP-seq
MIRT1417727	hsa-miR-4430	CLIP-seq
MIRT2347662	hsa-miR-4436a	CLIP-seq
MIRT2347663	hsa-miR-4437	CLIP-seq
MIRT2125399	hsa-miR-4446-5p	CLIP-seq
MIRT1417729	hsa-miR-4448	CLIP-seq
MIRT2347664	hsa-miR-4450	CLIP-seq
MIRT2347665	hsa-miR-4465	CLIP-seq
MIRT2347666	hsa-miR-4486	CLIP-seq
MIRT1554543	hsa-miR-450a	CLIP-seq
MIRT2347667	hsa-miR-4533	CLIP-seq
MIRT2347668	hsa-miR-4640-5p	CLIP-seq
MIRT1417737	hsa-miR-4646-5p	CLIP-seq
MIRT2347669	hsa-miR-4653-5p	CLIP-seq
MIRT1417739	hsa-miR-4659a-5p	CLIP-seq
MIRT1417740	hsa-miR-4659b-5p	CLIP-seq
MIRT2347670	hsa-miR-4674	CLIP-seq
MIRT1417743	hsa-miR-4684-3p	CLIP-seq
MIRT1417744	hsa-miR-4689	CLIP-seq
MIRT2347671	hsa-miR-4695-5p	CLIP-seq
MIRT1417745	hsa-miR-4701-3p	CLIP-seq
MIRT1417746	hsa-miR-4708-3p	CLIP-seq
MIRT2125400	hsa-miR-4708-5p	CLIP-seq
MIRT1417747	hsa-miR-4710	CLIP-seq
MIRT2347672	hsa-miR-4726-5p	CLIP-seq
MIRT2347673	hsa-miR-4728-5p	CLIP-seq
MIRT2347674	hsa-miR-4742-5p	CLIP-seq
MIRT2125401	hsa-miR-4755-5p	CLIP-seq
MIRT2347675	hsa-miR-4759	CLIP-seq
MIRT1417752	hsa-miR-4776-3p	CLIP-seq
MIRT2347676	hsa-miR-4780	CLIP-seq
MIRT1417754	hsa-miR-4784	CLIP-seq
MIRT2347677	hsa-miR-484	CLIP-seq
MIRT1417759	hsa-miR-485-5p	CLIP-seq
MIRT1417760	hsa-miR-491-3p	CLIP-seq
MIRT2347678	hsa-miR-491-5p	CLIP-seq
MIRT1417762	hsa-miR-500b	CLIP-seq
MIRT2347679	hsa-miR-5047	CLIP-seq
MIRT1417763	hsa-miR-506	CLIP-seq
MIRT2347680	hsa-miR-544b	CLIP-seq
MIRT2347681	hsa-miR-548an	CLIP-seq
MIRT2347682	hsa-miR-555	CLIP-seq
MIRT1417768	hsa-miR-568	CLIP-seq
MIRT1417771	hsa-miR-595	CLIP-seq
MIRT2347683	hsa-miR-612	CLIP-seq
MIRT2125402	hsa-miR-623	CLIP-seq
MIRT1417774	hsa-miR-629	CLIP-seq
MIRT2347684	hsa-miR-644	CLIP-seq
MIRT2347685	hsa-miR-655	CLIP-seq
MIRT2347686	hsa-miR-659	CLIP-seq
MIRT2347687	hsa-miR-665	CLIP-seq
MIRT1417779	hsa-miR-876-5p	CLIP-seq
MIRT1417782	hsa-miR-92a	CLIP-seq
MIRT1417783	hsa-miR-92b	CLIP-seq
MIRT1417654	hsa-miR-122	CLIP-seq
MIRT1417661	hsa-miR-1262	CLIP-seq
MIRT2395641	hsa-miR-1268	CLIP-seq
MIRT2395642	hsa-miR-1268b	CLIP-seq
MIRT1417671	hsa-miR-139-5p	CLIP-seq
MIRT1417675	hsa-miR-1909	CLIP-seq
MIRT2395643	hsa-miR-210	CLIP-seq
MIRT1417682	hsa-miR-216a	CLIP-seq
MIRT1417683	hsa-miR-216b	CLIP-seq
MIRT1417685	hsa-miR-25	CLIP-seq
MIRT1417687	hsa-miR-302f	CLIP-seq
MIRT1417689	hsa-miR-3074-5p	CLIP-seq
MIRT1417690	hsa-miR-3135b	CLIP-seq
MIRT1417693	hsa-miR-3150b-3p	CLIP-seq
MIRT1417699	hsa-miR-32	CLIP-seq
MIRT1417708	hsa-miR-363	CLIP-seq
MIRT1417709	hsa-miR-3650	CLIP-seq
MIRT1417710	hsa-miR-3652	CLIP-seq
MIRT1417711	hsa-miR-367	CLIP-seq
MIRT1417724	hsa-miR-4325	CLIP-seq
MIRT1417727	hsa-miR-4430	CLIP-seq
MIRT1417729	hsa-miR-4448	CLIP-seq
MIRT2347666	hsa-miR-4486	CLIP-seq
MIRT1554543	hsa-miR-450a	CLIP-seq
MIRT1417735	hsa-miR-4530	CLIP-seq
MIRT1417743	hsa-miR-4684-3p	CLIP-seq
MIRT1417744	hsa-miR-4689	CLIP-seq
MIRT1417745	hsa-miR-4701-3p	CLIP-seq
MIRT1417747	hsa-miR-4710	CLIP-seq
MIRT2395644	hsa-miR-4731-5p	CLIP-seq
MIRT1417754	hsa-miR-4784	CLIP-seq
MIRT1417759	hsa-miR-485-5p	CLIP-seq
MIRT1417762	hsa-miR-500b	CLIP-seq
MIRT2395645	hsa-miR-585	CLIP-seq
MIRT1417774	hsa-miR-629	CLIP-seq
MIRT1417782	hsa-miR-92a	CLIP-seq
MIRT1417783	hsa-miR-92b	CLIP-seq
MIRT1417644	hsa-let-7a	CLIP-seq
MIRT1417645	hsa-let-7b	CLIP-seq
MIRT1417646	hsa-let-7c	CLIP-seq
MIRT1417647	hsa-let-7d	CLIP-seq
MIRT1417648	hsa-let-7e	CLIP-seq
MIRT1417649	hsa-let-7f	CLIP-seq
MIRT1417650	hsa-let-7g	CLIP-seq
MIRT1417651	hsa-let-7i	CLIP-seq
MIRT1417665	hsa-miR-1294	CLIP-seq
MIRT1417678	hsa-miR-202	CLIP-seq
MIRT1417709	hsa-miR-3650	CLIP-seq
MIRT2347653	hsa-miR-3940-3p	CLIP-seq
MIRT1417730	hsa-miR-4458	CLIP-seq
MIRT2440932	hsa-miR-4489	CLIP-seq
MIRT1417731	hsa-miR-4500	CLIP-seq
MIRT2125400	hsa-miR-4708-5p	CLIP-seq
MIRT1417747	hsa-miR-4710	CLIP-seq
MIRT1417751	hsa-miR-4746-3p	CLIP-seq
MIRT1417757	hsa-miR-4792	CLIP-seq
MIRT2440933	hsa-miR-576-3p	CLIP-seq
MIRT1417784	hsa-miR-98	CLIP-seq
MIRT1417654	hsa-miR-122	CLIP-seq
MIRT2347626	hsa-miR-1234	CLIP-seq
MIRT1417656	hsa-miR-1237	CLIP-seq
MIRT1417666	hsa-miR-1299	CLIP-seq
MIRT2640562	hsa-miR-1304	CLIP-seq
MIRT2640563	hsa-miR-1827	CLIP-seq
MIRT1417690	hsa-miR-3135b	CLIP-seq
MIRT2640564	hsa-miR-3194-5p	CLIP-seq
MIRT1417709	hsa-miR-3650	CLIP-seq
MIRT1417710	hsa-miR-3652	CLIP-seq
MIRT2347653	hsa-miR-3940-3p	CLIP-seq
MIRT2640565	hsa-miR-3978	CLIP-seq
MIRT2640566	hsa-miR-412	CLIP-seq
MIRT2640567	hsa-miR-4283	CLIP-seq
MIRT2640568	hsa-miR-4421	CLIP-seq
MIRT1417727	hsa-miR-4430	CLIP-seq
MIRT2440932	hsa-miR-4489	CLIP-seq
MIRT2125400	hsa-miR-4708-5p	CLIP-seq
MIRT1417750	hsa-miR-4733-3p	CLIP-seq
MIRT1417753	hsa-miR-4782-5p	CLIP-seq
MIRT1417759	hsa-miR-485-5p	CLIP-seq
MIRT1417764	hsa-miR-516b	CLIP-seq
MIRT1417778	hsa-miR-875-3p	CLIP-seq
MIRT2640569	hsa-miR-885-3p	CLIP-seq
MIRT2347626	hsa-miR-1234	CLIP-seq
MIRT1417656	hsa-miR-1237	CLIP-seq
MIRT1417666	hsa-miR-1299	CLIP-seq
MIRT2640562	hsa-miR-1304	CLIP-seq
MIRT2640563	hsa-miR-1827	CLIP-seq
MIRT2692876	hsa-miR-1908	CLIP-seq
MIRT1417676	hsa-miR-192	CLIP-seq
MIRT1417681	hsa-miR-215	CLIP-seq
MIRT2692877	hsa-miR-2861	CLIP-seq
MIRT1417694	hsa-miR-3167	CLIP-seq
MIRT2347641	hsa-miR-3169	CLIP-seq
MIRT1417695	hsa-miR-3192	CLIP-seq
MIRT2640564	hsa-miR-3194-5p	CLIP-seq
MIRT1417707	hsa-miR-3611	CLIP-seq
MIRT2347653	hsa-miR-3940-3p	CLIP-seq
MIRT2640565	hsa-miR-3978	CLIP-seq
MIRT2640566	hsa-miR-412	CLIP-seq
MIRT2640567	hsa-miR-4283	CLIP-seq
MIRT1417719	hsa-miR-4304	CLIP-seq
MIRT1417722	hsa-miR-4314	CLIP-seq
MIRT2640568	hsa-miR-4421	CLIP-seq
MIRT2440932	hsa-miR-4489	CLIP-seq
MIRT2692878	hsa-miR-4515	CLIP-seq
MIRT2347668	hsa-miR-4640-5p	CLIP-seq
MIRT1417737	hsa-miR-4646-5p	CLIP-seq
MIRT2692879	hsa-miR-4651	CLIP-seq
MIRT2692880	hsa-miR-4688	CLIP-seq
MIRT2125400	hsa-miR-4708-5p	CLIP-seq
MIRT2347672	hsa-miR-4726-5p	CLIP-seq
MIRT1417750	hsa-miR-4733-3p	CLIP-seq
MIRT2692881	hsa-miR-4777-5p	CLIP-seq
MIRT1417753	hsa-miR-4782-5p	CLIP-seq
MIRT1417764	hsa-miR-516b	CLIP-seq
MIRT2692882	hsa-miR-518d-5p	CLIP-seq
MIRT2692883	hsa-miR-519b-5p	CLIP-seq
MIRT2692884	hsa-miR-519c-5p	CLIP-seq
MIRT2692885	hsa-miR-520c-5p	CLIP-seq
MIRT1417765	hsa-miR-520d-5p	CLIP-seq
MIRT1417766	hsa-miR-524-5p	CLIP-seq
MIRT2692886	hsa-miR-526a	CLIP-seq
MIRT2692887	hsa-miR-541	CLIP-seq
MIRT1417771	hsa-miR-595	CLIP-seq
MIRT2692888	hsa-miR-608	CLIP-seq
MIRT2692889	hsa-miR-654-5p	CLIP-seq
MIRT2692890	hsa-miR-663	CLIP-seq
MIRT1417778	hsa-miR-875-3p	CLIP-seq
MIRT1417779	hsa-miR-876-5p	CLIP-seq
MIRT2640569	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20562859
GO:0005737	Component	Cytoplasm	IEA
GO:0006914	Process	Autophagy	IEA
GO:0032527	Process	Protein exit from endoplasmic reticulum	IBA
GO:0032527	Process	Protein exit from endoplasmic reticulum	IMP	26431026

Other IDs

• MIM: 615000
• HGNC: 19957
• e!Ensembl: ENSG00000196663

Protein

• UniProt ID: O15040
• Protein name: Tectonin beta-propeller repeat-containing protein 2 (WD repeat-containing protein KIAA0329/KIAA0297)
• Protein function: Probably plays a role as positive regulator of autophagy.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06462	Hyd_WA	946 → 974	Propeller	Family
  PF06462	Hyd_WA	995 → 1026	Propeller	Family
  PF19193	Tectonin	1171 → 1326	Tectonin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in skin fibroblast (at protein level). {ECO:0000269|PubMed:23176824}.
• Sequence:

  MASISEPVTFREFCPLYYLLNAIPTKIQKGFRSIVVYLTALDTNGDYIAVGSSIGMLYLY
  CRHLNQMRKYNFEGKTESITVVKLLSCFDDLVAAGTASGRVAVFQLVSSLPGRNKQLRRF
  DVTGIHKNSITALAWSPNGMKLFSGDDKGKIVYSSLDLDQGLCNSQLVLEEPSSIVQLDY
  SQKVLLVSTLQRSLLFYTEEKSVRQIGTQPRKSTGKFGACFIPGLCKQSDLTLYASRPGL
  RLWKADVHGTVQATFILKDAFAGGVKPFELHPRLESPNSGSCSLPERHLGLVSCFFQEGW
  VLSWNEYSIYLLDTVNQATVAGLEGSGDIVSVSCTENEIFFLKGDRNIIRISSRPEGLTS
  TVRDGLEMSGCSERVHVQQAEKLPGATVSETRLRGSSMASSVASEPRSRSSSLNSTDSGS
  GLLPPGLQATPELGKGSQPLSQRFNAISSEDFDQELVVKPIKVKRKKKKKKTEGGSRSTC
  HSSLESTPCSEFPGDSPQSLNTDLLSMTSSVLGSSVDQLSAESPDQESSFNGEVNGVPQE
  NTDPETFNVLEVSGSMPDSLAEEDDIRTEMPHCHHAHGRELLNGAREDVGGSDVTGLGDE
  PCPADDGPNSTQLPFQEQDSSPGAHDGEDIQPIGPQSTFCEVPLLNSLTVPSSLSWAPSA
  EQWLPGTRADEGSPVEPSQEQDILTSMEASGHLSTNLWHAVTDDDTGQKEIPISERVLGS
  VGGQLTPVSALAASTHKPWLEQPPRDQTLTSSDEEDIYAHGLPSSSSETSVTELGPSCSQ
  QDLSRLGAEDAGLLKPDQFAESWMGYSGPGYGILSLVVSEKYIWCLDYKGGLFCSALPGA
  GLRWQKFEDAVQQVAVSPSGALLWKIEQKSNRAFACGKVTIKGKRHWYEALPQAVFVALS
  DDTAWIIRTSGDLYLQTGLSVDRPCARAVKVDCPYPLSQITARNNVVWALTEQRALLYRE
  GVSSFCPEGEQWKCDIVSERQALEPVCITLGDQQTLWALDIHGNLWFRTGIISKKPQGDD
  DHWWQVSITDYVVFDQCSLFQTIIHATHSVATAAQAPVEKVADKLRMAFWSQQLQCQPSL
  LGVNNSGVWISSGKNEFHVAKGSLIGTYWNHVVPRGTASATKWAFVLASAAPTKEGSFLW
  LCQSSKDLCSVSAQSAQSRPSTVQLPPEAEMRAYAACQDALWALDSLGQVFIRTLSKSCP
  TGMHWTRLDLSQLGAVKLTSLACGNQHIWACDSRGGVYFRVGTQPLNPSLMLPAWIMIEP
  PVQPAGVSLVSVHSSPNDQMLWVLDSRWNVHVRTGITEEMPVGTAWEHVPGLQACQLALS
  TRTVWARCPNGDLARRYGVTDKNPAGDYWKKIPGSVSCFTVTASDELWAVGPPGYLLQRL
  TKTFSHSHGTQKSSQAAMPHPEDLEDEWEVI

• Sequence length: 1411

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
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs1567327482, rs750908377	RCV003120778 RCV003330660	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 49	Likely pathogenic; Pathogenic	rs765874018, rs1259941860, rs2139656549, rs2139716373, rs1213755599, rs2139731631, rs200843101, rs2139743890, rs2139752366, rs2139755178, rs2139803640, rs1276623521, rs2139771776, rs2139731468, rs2139726701, rs1345546964, rs2139736635, rs2139771589, rs2139715925, rs2139771682, rs2139731066, rs2139746567, rs1567327482, rs2139716064, rs2139752512, rs2139726694, rs2139803627, rs1486136461, rs2504480577, rs761285440, rs1891304213, rs1889591634, rs2504423596, rs2504453043, rs1377993607, rs2504411130, rs2504418023, rs2504446168, rs2504418131, rs2504459355, rs2504459163, rs2504480471, rs2504423776, rs2504446543, rs2504410935, rs2504437253, rs2504417338, rs2504410874, rs2504453415, rs1395112297, rs2504423788, rs2504432999, rs1889286788, rs2504405092, rs2504446531, rs1352740721, rs1338226967, rs2504425233, rs2504424733, rs2504306619, rs1268839383, rs2504432690, rs2504433132, rs2504523105, rs2504417581, rs2504425268, rs2504458939, rs750908377, rs772483312, rs1359602238, rs751970061, rs1364819755, rs1555451465, rs1567314662, rs1595123894, rs1889618137, rs765880201, rs1889895576, rs1891300695, rs1888974364, rs1889277232, rs1891340555	RCV001375676 RCV001383376 RCV001383628 RCV001385230 RCV001383927 RCV001385005 RCV001387583 RCV001386525 RCV001384672 RCV001387120 RCV001385064 RCV001542482 RCV001542483 RCV001783861 RCV001783862 RCV001824195 RCV001988824 RCV001880503 RCV001875337 RCV001945253 RCV001945332 RCV001902457 RCV001941872 RCV001956288 RCV001872411 RCV002042020 RCV001951526 RCV001863521 RCV003077869 RCV002632270 RCV002614136 RCV002662675 RCV002650589 RCV002830080 RCV002908853 RCV002939124 RCV002991765 RCV002996804 RCV003013677 RCV003028260 RCV003038747 RCV003045660 RCV003034759 RCV003037543 RCV003057370 RCV003048357 RCV003340745 RCV003487102 RCV003536355 RCV003537835 RCV003536593 RCV003536980 RCV003536909 RCV003537022 RCV003649471 RCV003649564 RCV003649835 RCV003652518 RCV003652622 RCV003653709 RCV003653729 RCV003650004 RCV003811528 RCV003828323 RCV003875669 RCV003993581 RCV004555138 RCV000414835 RCV001250489 RCV001250490 RCV000032879 RCV003653224 RCV000662183 RCV000691751 RCV001836063 RCV001205722 RCV001230412 RCV001250127 RCV001290398 RCV001257142 RCV001290269 RCV001290270	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sensory autonomic neuropathy with intellectual disability	Likely pathogenic	rs1891300695	RCV001281352	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIRDSHOT CHORIORETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECTONIN BETA-PROPELLER REPEAT CONTAINING 2 MUTATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited spastic paresis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, FRA12A type	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, FRA12A TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAPARESIS, SPASTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TECPR2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	CTD_human_DG	26555167		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	23176824		★☆☆☆☆ Found in Text Mining only
Birdshot chorioretinopathy	Birdshot Chorioretinopathy	GWASDB_DG	24957906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Birdshot chorioretinopathy	Birdshot Chorioretinopathy	GWASCAT_DG	24957906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Birdshot Chorioretinopathy	Birdshot chorioretinopathy	Pubtator	24957906	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	26542466		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	35130874	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	BEFREE	26555167		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	26431026		★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	23176824		★☆☆☆☆ Found in Text Mining only
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	Hereditary Sensory And Autonomic Neuropathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary X-Linked Recessive Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	23176824		★☆☆☆☆ Found in Text Mining only
HMSN Type V	Charcot-Marie-Tooth disease	CTD_human_DG	23176824		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	CTD_human_DG	26555167		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26542466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	CTD_human_DG	26555167		★☆☆☆☆ Found in Text Mining only
Late Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	CTD_human_DG	26555167		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor Neuron Disease	BEFREE	27406698		★☆☆☆☆ Found in Text Mining only
Neuroaxonal Dystrophies	Neuroaxonal Dystrophy	BEFREE	26555167		★☆☆☆☆ Found in Text Mining only
Neuroaxonal Dystrophies	Neuroaxonal Dystrophy	CTD_human_DG	26555167		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23439247, 24284334	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23439247, 24284334, 27406698		★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	23176824	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG	23176824, 26431026, 26542466		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	23176824, 25529582, 26542466		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	23176824		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	35130874	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	CTD_human_DG	23176824		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	27406698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	24284334	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked, Spastic Paraplegia, Hereditary	Hereditary spastic paraplegia, X-linked	CTD_human_DG	23176824		★☆☆☆☆ Found in Text Mining only