AiPD: Autoinhibited Protein Database

Q86VR2

Gene name	RETREG3
Protein name	Reticulophagy regulator 3
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:162427
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-59 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-59 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q86VR2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86VR2-F1	Predicted				AlphaFoldDB

391 variants for Q86VR2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs748920342 CA8579650	2	A>V		No	ClinGen ExAC gnomAD
CA399620605 rs1197025583	4	A>T		No	ClinGen TOPMed
rs200120312 CA8579648	5	E>K		No	ClinGen ExAC TOPMed gnomAD
rs200120312 CA8579649	5	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1282344971 CA399620582	6	G>R		No	ClinGen TOPMed gnomAD
CA290798588 rs553247696	7	V>G		No	ClinGen 1000Genomes
CA8579646 rs142711318	7	V>I		No	ClinGen ESP ExAC gnomAD
rs757889076 CA8579645	8	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1308800913 CA399620564	8	P>S		No	ClinGen TOPMed gnomAD
rs144776175 CA8579642	9	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8579643 rs777873799	9	T>P		No	ClinGen ExAC gnomAD
CA8579640 rs765385432	11	P>L		No	ClinGen ExAC TOPMed gnomAD
CA399620527 rs1597746683	11	P>S		No	ClinGen Ensembl
rs755888029 CA8579639	13	P>L		No	ClinGen ExAC gnomAD
CA290798586 rs745753278	14	A>G		No	ClinGen Ensembl
CA8579638 rs750264278	14	A>T		No	ClinGen ExAC gnomAD
CA8579636 rs761694217	16	G>R		No	ClinGen ExAC gnomAD
rs1247807287 CA399620448	18	T>I		No	ClinGen gnomAD
rs763600770 CA8579634	19	F>C		No	ClinGen ExAC gnomAD
CA8579633 rs762373592	21	G>S		No	ClinGen ExAC gnomAD
rs145518918 CA8579632	22	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1299209805 CA399620400	23	R>G		No	ClinGen gnomAD
rs769631213 CA8579631	23	R>P		No	ClinGen ExAC TOPMed gnomAD
rs537673590 CA290798585	24	D>H		No	ClinGen 1000Genomes
CA399620378 rs1261755163	25	V>M		No	ClinGen TOPMed
rs1355740591 CA399620366	26	S>P		No	ClinGen TOPMed
rs1030924467 CA290798584	27	G>V		No	ClinGen Ensembl
CA399620337 rs570020009	28	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8579628 rs771454576	28	S>P		No	ClinGen ExAC gnomAD
CA8579629 rs771454576	28	S>T		No	ClinGen ExAC gnomAD
rs570020009 CA8579627	28	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1346617745 CA399620325	29	W>*		No	ClinGen gnomAD
rs1453956879 CA399620330	29	W>*		No	ClinGen gnomAD
CA8579626 rs778158678	29	W>G		No	ClinGen ExAC gnomAD
rs1429450525 CA399620300	31	R>P		No	ClinGen TOPMed gnomAD
CA399620302 rs1429450525	31	R>Q		No	ClinGen TOPMed gnomAD
CA8579624 rs748232124	31	R>W		No	ClinGen ExAC TOPMed gnomAD
CA399620285 rs201986066	32	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1597746579 CA399620289	32	D>G		No	ClinGen Ensembl
CA8579621 rs754085949	33	Q>H		No	ClinGen ExAC gnomAD
CA399620227 rs1597746563	36	E>V		No	ClinGen Ensembl
CA8579618 rs751445516	37	A>V		No	ClinGen ExAC TOPMed gnomAD
CA399620200 rs1209747520	38	A>V		No	ClinGen gnomAD
CA8579616 rs762513648	43	V>A		No	ClinGen ExAC gnomAD
rs764953063 CA8579614	44	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1597746540 CA399620121	45	V>G		No	ClinGen Ensembl
rs1021688425 CA290798583	45	V>L		No	ClinGen Ensembl
CA8579610 rs760954637	51	P>L		No	ClinGen ExAC TOPMed gnomAD
CA399620055 rs1461720453	51	P>S		No	ClinGen Ensembl
CA399620045 rs773768773	52	L>V		No	ClinGen ExAC TOPMed gnomAD
rs546909587 CA8579606	54	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs768742225 CA8579605	54	S>R		No	ClinGen ExAC gnomAD
rs1308402371 CA399620010	55	R>Q		No	ClinGen TOPMed
rs749452821 CA8579604	55	R>W		No	ClinGen ExAC gnomAD
rs1597746503 CA399620002	56	V>G		No	ClinGen Ensembl
CA290798581 rs1035688217	56	V>M		No	ClinGen TOPMed gnomAD
rs1430645805 CA399619997	57	Q>R		No	ClinGen gnomAD
rs780258410 CA8579603	58	A>E		No	ClinGen ExAC gnomAD
rs928168297 CA290798580	59	A>T		No	ClinGen TOPMed
rs898044589 CA290798579	61	V>M		No	ClinGen TOPMed gnomAD
CA399619944 rs1315920089 CA399619946	62	W>R		No	ClinGen TOPMed gnomAD
CA8579598 rs752710925	66	A>V		No	ClinGen ExAC gnomAD
CA399619886 rs1448279550	67	R>G		No	ClinGen TOPMed
rs764791854 CA8579597	67	R>S		No	ClinGen ExAC gnomAD
CA399619843 rs1338046296	70	L>P		No	ClinGen gnomAD
CA8579595 rs753477926	70	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1443929838 CA399619835	71	W>R		No	ClinGen gnomAD
rs1398986269 CA399619816	72	C>F		No	ClinGen gnomAD
rs1597746423 CA399619817	72	C>G		No	ClinGen Ensembl
CA8579592 rs773486608	74	G>A		No	ClinGen ExAC gnomAD
CA8579591 rs767951829	77	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1597746394 CA399619761	77	A>V		No	ClinGen Ensembl
rs1387321657 CA399619738	79	F>C		No	ClinGen gnomAD
TCGA novel	82	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	83	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767712629 CA8579572	84	L>V		No	ClinGen ExAC gnomAD
TCGA novel	84	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8579571 rs762241883	86	S>C		No	ClinGen ExAC gnomAD
rs762241883 CA399615933	86	S>F		No	ClinGen ExAC gnomAD
rs1372884046 CA399615924	88	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8579570 rs774835274	88	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1377184181 CA399615915	90	V>M		No	ClinGen gnomAD
CA399615904 rs1480740330	91	F>C		No	ClinGen gnomAD
TCGA novel	92	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399615891 rs1270714964	93	L>H		No	ClinGen gnomAD
CA8579569 rs764641798	94	A>G		No	ClinGen ExAC TOPMed gnomAD
CA399615888 rs1351337961	94	A>P		No	ClinGen TOPMed
rs1284513662 CA399615873	96	G>R		No	ClinGen TOPMed gnomAD
rs1460164250 CA399615849	99	I>T		No	ClinGen TOPMed gnomAD
CA399615839 rs1342239060	101	V>M		No	ClinGen gnomAD
CA290790130 CA399615812 rs898284338	104	D>E		No	ClinGen TOPMed gnomAD
CA399615817 rs1224622864	104	D>N		No	ClinGen gnomAD
rs746028869 CA8579565	105	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1327444902 CA399615766	110	I>M		No	ClinGen gnomAD
rs776926422 CA8579564	110	I>T		No	ClinGen ExAC gnomAD
CA399615742 rs1320504927	114	I>L		No	ClinGen gnomAD
rs1401534664 CA399615728	115	K>N		No	ClinGen gnomAD
rs1394549981 CA399615735	115	K>Q		No	ClinGen gnomAD
rs764554335 CA8579552	116	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8579553 rs764554335	116	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1329198475 CA399615710	117	P>S		No	ClinGen TOPMed gnomAD
CA290787978 rs967441166	120	D>N		No	ClinGen TOPMed gnomAD
CA399615689 rs1169452792	120	D>V		No	ClinGen gnomAD
rs1020322746 CA290787972	121	A>V		No	ClinGen Ensembl
CA399615670 rs1384215280	123	D>G		No	ClinGen gnomAD
CA399615665 rs1328842825	124	N>D		No	ClinGen TOPMed
CA8579548 rs759669500	124	N>I		No	ClinGen ExAC gnomAD
CA8579547 rs776718318	125	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1175419468 CA399615609	130	V>M		No	ClinGen TOPMed
CA290787446 rs1024942822	132	P>L		No	ClinGen TOPMed gnomAD
CA8579532 rs753080144	133	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs758775508 CA8579533	133	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765842588 CA8579531	136	S>G		No	ClinGen ExAC TOPMed gnomAD
CA8579529 rs754002348	136	S>R		No	ClinGen ExAC gnomAD
CA8579530 rs759525101	136	S>T		No	ClinGen ExAC gnomAD
rs148877628 CA290787432	137	V>M		No	ClinGen ESP TOPMed
rs760928569 CA8579528	138	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8579527 rs760928569	138	P>S		No	ClinGen ExAC TOPMed gnomAD
CA399615557 rs1224961902	139	E>K		No	ClinGen TOPMed gnomAD
CA8579525 rs768495003	143	H>D		No	ClinGen ExAC gnomAD
rs200843863 CA399615496	143	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8579523 rs775276368	144	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1384678822 CA399615458	147	V>G		No	ClinGen gnomAD
rs769817006 CA8579522	147	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1281187251 CA399615438	149	V>D		No	ClinGen TOPMed gnomAD
CA8579521 rs202004998	150	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8579520 rs780713729	152	T>A		No	ClinGen ExAC gnomAD
rs995722405 CA290787401	152	T>I		No	ClinGen TOPMed gnomAD
CA290787391 rs1039381489	154	F>Y		No	ClinGen TOPMed gnomAD
rs746608852 CA8579518	158	V>A		No	ClinGen ExAC gnomAD
TCGA novel	158	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8579515 rs189259624	165	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758760931 CA8579516	165	N>T		No	ClinGen ExAC gnomAD
rs779270721 CA8579514	167	G>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	169	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8579493 rs145552422	173	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1158237396 CA399615006	178	T>S		No	ClinGen TOPMed
CA8579491 rs756248295	180	L>S		No	ClinGen ExAC gnomAD
rs150119005 CA8579489	183	L>*		No	ClinGen ESP ExAC gnomAD
CA290786870 rs866176602	184	G>S		No	ClinGen gnomAD
rs767816090 CA8579488	185	R>C		No	ClinGen ExAC gnomAD
TCGA novel	185	R>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8579487 rs757460358	185	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757460358 CA399614932	185	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8579485 rs765024458	187	V>I		No	ClinGen ExAC gnomAD
TCGA novel	193	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1339227537 CA399614830 COSM3819647	194	Y>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA399614819 rs1298953066	195	L>W		No	ClinGen TOPMed
rs1442884007 CA399614814	196	M>L		No	ClinGen Ensembl
rs1597733568 CA399614793	197	L>F		No	ClinGen Ensembl
CA399614693 rs1289357626	199	T>I		No	ClinGen gnomAD
rs1014161890 CA290786440	200	V>I		No	ClinGen TOPMed
rs1567921135 CA399614667	201	M>I		No	ClinGen Ensembl
rs774036950 CA8579458	201	M>K		No	ClinGen ExAC gnomAD
rs1439050929 CA399614678	201	M>V		No	ClinGen TOPMed
rs140770314 CA290786435	202	M>I		No	ClinGen ESP TOPMed gnomAD
rs1236249642 CA399614634	203	W>*		No	ClinGen gnomAD
rs1430548811 CA399614622	204	P>L		No	ClinGen gnomAD
rs147570272 CA290786429	205	L>V		No	ClinGen ESP
CA399614596 rs1376412305	206	A>V		No	ClinGen TOPMed
rs1567921124 CA399614587	207	V>A		No	ClinGen Ensembl
CA8579457 rs768240598	208	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA399614581 rs1444895515	208	Y>H		No	ClinGen TOPMed
CA399614577 rs768240598	208	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1308309738 CA399614555	210	R>*		No	ClinGen gnomAD
CA399614551 rs763376822	210	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8579456 rs763376822	210	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8579455 rs775957430	214	R>G		No	ClinGen ExAC
rs1385096437 CA399614504	214	R>Q		No	ClinGen TOPMed
CA399614497 rs1323489567	215	A>T		No	ClinGen TOPMed
CA8579452 rs781555927	218	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8579453 rs141899496	218	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs753920561 CA8579449	222	A>D		No	ClinGen ExAC gnomAD
CA290786382 rs753920561	222	A>G		No	ClinGen ExAC gnomAD
rs747116532 CA8579450	222	A>S		No	ClinGen ExAC gnomAD
CA399614392 rs1473542781	224	Q>L		No	ClinGen gnomAD
CA399614390 rs1473542781	224	Q>P		No	ClinGen gnomAD
CA290786369 rs369614204	225	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369614204 CA8579447	225	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs147958787 CA8579448	225	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA399614375 rs1161023011	226	L>V		No	ClinGen TOPMed
CA8579445 rs755904338	227	D>N		No	ClinGen ExAC TOPMed gnomAD
rs750351893 CA8579444	228	F>L		No	ClinGen ExAC gnomAD
rs767410129 CA8579443	231	R>C		No	ClinGen ExAC TOPMed gnomAD
rs144875771 CA8579442	231	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148776284 CA8579441	232	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8579440 rs201763838	234	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8579439 rs762645586	234	M>T		No	ClinGen ExAC gnomAD
CA290786350 rs546276696	236	S>P		No	ClinGen Ensembl
rs775295149 CA8579438	241	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1447370252 CA399614180	241	R>K		No	ClinGen TOPMed
rs144319552 CA8579436	242	Q>E		No	ClinGen ESP TOPMed
rs752394830 CA8579414	244	R>C		No	ClinGen ExAC TOPMed gnomAD
CA399613028 rs1190178899 COSM97972	244	R>H	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs765041342 CA8579413	245	R>C		No	ClinGen ExAC TOPMed gnomAD
rs534004137 COSM1206094 CA8579412	245	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8579411 rs776902978	246	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8579410 rs371460668	247	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA399612991 rs1597732431	248	L>P		No	ClinGen Ensembl
CA399612982 rs1597732427	249	H>P		No	ClinGen Ensembl
TCGA novel	249	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773787268 CA8579408	251	E>A		No	ClinGen ExAC gnomAD
rs772129962 CA8579407	252	R>*		No	ClinGen ExAC gnomAD
rs138481678 CA8579406	252	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs138481678 COSM3937393 CA399612952	252	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs774531061 CA8579405	253	A>T		No	ClinGen ExAC TOPMed gnomAD
rs755518358 CA290785755	254	M>V		No	ClinGen TOPMed gnomAD
rs1360833724 CA399612912	256	N>K		No	ClinGen gnomAD
rs551348476 CA8579404	256	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1166885069 CA399612894	259	D>N		No	ClinGen TOPMed
rs1464807661 CA399612869	261	E>K		No	ClinGen TOPMed
rs533401880 CA290785748	265	A>P		No	ClinGen 1000Genomes
rs1397011919 CA399612796	267	F>L		No	ClinGen gnomAD
rs1170064998 CA399612763	269	P>L		No	ClinGen TOPMed gnomAD
CA290785507 rs112002966	271	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8579386 rs774371978	272	D>G		No	ClinGen ExAC gnomAD
TCGA novel	273	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8579384 rs150018457	273	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399612628 rs1597732065	274	S>P		No	ClinGen Ensembl
rs1420330499 CA399612623	274	S>Y		No	ClinGen TOPMed
rs1470811788 CA399612606	275	T>I		No	ClinGen gnomAD
rs1567920422 CA399612617	275	T>P		No	ClinGen Ensembl
rs748595025 CA8579382	276	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746880289 CA8579380	279	E>D		No	ClinGen ExAC gnomAD
rs779389786 CA290785491	279	E>G		No	ClinGen Ensembl
rs770627957 CA8579381 COSM3387904	279	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs200417453 CA8579379	282	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1567920406 CA399612479	285	S>P		No	ClinGen Ensembl
CA399612447 rs1315172454	287	H>P		No	ClinGen TOPMed gnomAD
rs772178308 CA8579377	287	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA399612445 rs1315172454	287	H>R		No	ClinGen TOPMed gnomAD
CA290785477 rs368309717	287	H>Y		No	ClinGen ESP
rs142525874 CA8579375	290	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1324280409 CA399612403	290	A>V		No	ClinGen TOPMed
rs1297617139 CA399612398	291	E>*		No	ClinGen gnomAD
CA8579374 rs201057356	292	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753370219 CA8579373	294	C>Y		No	ClinGen ExAC gnomAD
rs779810909 CA8579372	296	D>G		No	ClinGen ExAC gnomAD
rs756408849 CA8579371	297	N>S		No	ClinGen ExAC gnomAD
CA8579369 rs377695126	299	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA399612263 rs1408509825	300	F>L		No	ClinGen gnomAD
rs762256878 CA8579368	301	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8579365 rs763159719	304	R>G		No	ClinGen ExAC gnomAD
CA8579364 rs775562553	305	G>C		No	ClinGen ExAC TOPMed gnomAD
CA399612199 rs1241537798	305	G>V		No	ClinGen gnomAD
rs139294503 CA8579363	306	Q>P		No	ClinGen ESP ExAC TOPMed
rs1469137142 CA399612182	307	T>S		No	ClinGen gnomAD
CA399612168 rs1466353685	308	P>L		No	ClinGen gnomAD
CA8579362 rs760358624	309	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8579361 rs374428488	310	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748044572 CA8579359	311	E>D		No	ClinGen ExAC gnomAD
CA399612133 rs1161272423	312	G>C		No	ClinGen TOPMed gnomAD
CA399612120 rs1453855151	313	S>C		No	ClinGen TOPMed
rs748874992 CA8579356	314	E>D		No	ClinGen ExAC gnomAD
CA8579357 rs201677539	314	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1015099158 CA290785219	317	D>E		No	ClinGen TOPMed
CA8579343 rs777009691	317	D>G		No	ClinGen ExAC gnomAD
rs759786335 CA8579344	317	D>N		No	ClinGen ExAC gnomAD
TCGA novel	320	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8579341 rs761771214	323	E>D		No	ClinGen ExAC gnomAD
CA399611821 rs1567920178	324	E>D		No	ClinGen Ensembl
CA399611813 rs1354356326	325	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774403896 CA8579340	327	A>T		No	ClinGen ExAC TOPMed gnomAD
CA399611785 rs1383398331	328	R>I		No	ClinGen gnomAD
CA399611771 rs1183067548	329	D>E		No	ClinGen gnomAD
rs749211418 CA8579338	331	P>S		No	ClinGen ExAC gnomAD
CA8579337 rs200083943	332	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146315106 CA8579334	334	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8579335 rs745455561	334	P>S		No	ClinGen ExAC gnomAD
CA399611704 rs1341311216	336	I>V		No	ClinGen TOPMed
rs1343877093 CA399611676	338	M>K		No	ClinGen TOPMed gnomAD
rs1343877093 CA399611673	338	M>R		No	ClinGen TOPMed gnomAD
CA8579333 rs757604602	338	M>V		No	ClinGen ExAC gnomAD
rs372936395 CA8579332	340	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA399611643 rs1567920142	341	A>P		No	ClinGen Ensembl
CA8579331 rs778111697	341	A>V		No	ClinGen ExAC gnomAD
CA8579329 rs753168256	342	G>D		No	ClinGen ExAC gnomAD
CA8579330 rs758899525	342	G>S		No	ClinGen ExAC TOPMed gnomAD
rs755116530 CA8579327	345	D>H		No	ClinGen ExAC gnomAD
rs1567920121 CA399611576	346	E>A		No	ClinGen Ensembl
CA399611575 rs1309031140	346	E>D		No	ClinGen TOPMed gnomAD
CA399611578 rs1567920121	346	E>G		No	ClinGen Ensembl
CA399611583 rs1567920125	346	E>K		No	ClinGen Ensembl
CA399611564 rs1256383586	347	D>G		No	ClinGen TOPMed
rs1363938608 CA399611557	348	D>N		No	ClinGen gnomAD
CA8579326 rs766770283	349	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8579325 rs766770283	349	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8579323 rs774152358	351	I>T		No	ClinGen ExAC gnomAD
CA8579322 rs763815185	353	M>V		No	ClinGen ExAC gnomAD
rs368961190 CA8579321	354	P>S		No	ClinGen ESP ExAC gnomAD
rs374818512 CA8579320	356	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8579319 rs769335389	357	M>I		No	ClinGen ExAC gnomAD
rs1182640421 CA399611433	357	M>T		No	ClinGen gnomAD
CA399611425 rs1266294049	358	Y>H		No	ClinGen TOPMed gnomAD
CA399611421 rs1597731700	358	Y>S		No	ClinGen Ensembl
rs868704755 CA290785142 COSM979547	359	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA399611411 rs868704755	359	R>G		No	ClinGen TOPMed gnomAD
CA8579318 rs141966783	359	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA290785141 rs141966783	359	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8579317 rs776235105	361	P>L		No	ClinGen ExAC gnomAD
rs780642860 CA290785135	362	P>A		No	ClinGen Ensembl
CA8579314 rs778157197	363	G>A		No	ClinGen ExAC gnomAD
CA8579315 rs778157197	363	G>E		No	ClinGen ExAC gnomAD
CA399611361 rs1381891859	364	A>S		No	ClinGen TOPMed
CA290785124 rs904391774	364	A>V		No	ClinGen Ensembl
rs748627890 CA8579312	365	E>D		No	ClinGen ExAC gnomAD
CA399611325 rs1328265018	366	E>D		No	ClinGen TOPMed
rs368738899 CA8579311	366	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs138787430 CA8579310	367	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399611319 rs1567920032	367	P>S		No	ClinGen Ensembl
rs1452171852 CA399611306	368	Q>R		No	ClinGen gnomAD
CA8579307 rs201128742	370	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780307575 CA8579308	370	P>S		No	ClinGen ExAC TOPMed gnomAD
rs762716434 CA8579304	371	P>L		No	ClinGen ExAC TOPMed gnomAD
rs763893882 CA8579305	371	P>S		No	ClinGen ExAC gnomAD
rs1485302567 CA399611254	373	S>N		No	ClinGen TOPMed
CA8579302 rs765199158	374	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8579303 rs752676145	374	R>W		No	ClinGen ExAC TOPMed gnomAD
CA399611232 rs146279736	375	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8579301 rs759024584	375	D>N		No	ClinGen ExAC gnomAD
CA8579299 rs141316520	376	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8579298 rs760306651	377	A>P		No	ClinGen ExAC gnomAD
rs772750560 CA8579297	378	A>V		No	ClinGen ExAC TOPMed gnomAD
rs748524486 CA8579295	380	P>L		No	ClinGen ExAC gnomAD
CA8579292 rs749847545	381	E>*		No	ClinGen ExAC gnomAD
CA399611166 CA8579291 rs780219362	381	E>D		No	ClinGen ExAC gnomAD
rs1178633632 CA399611154	382	L>R		No	ClinGen TOPMed
rs756278847 CA290785073	385	G>A		No	ClinGen ExAC TOPMed gnomAD
rs756278847 CA8579290	385	G>D		No	ClinGen ExAC TOPMed gnomAD
CA399611126 rs1453574923	385	G>S		No	ClinGen TOPMed
CA399611123 rs756278847	385	G>V		No	ClinGen ExAC TOPMed gnomAD
rs781337450 CA8579288	391	S>F		No	ClinGen ExAC gnomAD
rs758182417 CA8579287	392	N>S		No	ClinGen ExAC gnomAD
CA399611045 rs758182417	392	N>T		No	ClinGen ExAC gnomAD
CA290785068 rs927965061	396	N>S		No	ClinGen Ensembl
rs753778095 CA8579283	405	M>L		No	ClinGen ExAC gnomAD
CA8579284 rs753778095	405	M>V		No	ClinGen ExAC gnomAD
CA8579279 rs771658176	413	A>S		No	ClinGen ExAC gnomAD
CA8579278 rs149072183	413	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA399610745 rs1460374082	414	S>F		No	ClinGen TOPMed gnomAD
rs749757633 CA8579275	415	Q>H		No	ClinGen ExAC gnomAD
rs370897444 CA8579276	415	Q>L		No	ClinGen ESP ExAC gnomAD
rs540483067 CA399610706	416	P>L		No	ClinGen 1000Genomes gnomAD
rs540483067 CA290785052	416	P>Q		No	ClinGen 1000Genomes gnomAD
CA8579273 rs769990393	417	G>D		No	ClinGen ExAC
rs780765803 CA8579274	417	G>R		No	ClinGen ExAC gnomAD
rs780765803 CA399610705	417	G>S		No	ClinGen ExAC gnomAD
CA8579272 rs745975205	418	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1299927810 CA399610677	418	P>L		No	ClinGen gnomAD
CA399610662 rs1262089005	419	S>F		No	ClinGen TOPMed
CA8579270 rs757372150	420	G>R		No	ClinGen ExAC gnomAD
CA8579268 rs146945979	421	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747285580 CA8579269	421	A>P		No	ClinGen ExAC TOPMed gnomAD
CA399610614 rs1165742841	422	P>L		No	ClinGen gnomAD
rs1467471654 CA399610587	424	Q>R		No	ClinGen TOPMed
rs766367709 CA8579265	425	R>G		No	ClinGen ExAC TOPMed gnomAD
CA399610567 rs1390181947	425	R>K		No	ClinGen gnomAD
CA399610570 rs1390181947	425	R>T		No	ClinGen gnomAD
CA399610559 rs1189953889	426	A>T		No	ClinGen gnomAD
CA8579263 rs141125973	427	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8579264 rs141125973	427	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761308861 CA8579261	428	R>T		No	ClinGen ExAC gnomAD
CA290785011 rs965082838	429	G>A		No	ClinGen Ensembl
rs774163908 CA8579260	431	L>F		No	ClinGen ExAC gnomAD
rs371218425 CA8579258	432	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs764542549 CA8579259	432	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8579257 rs776110979	434	P>L		No	ClinGen ExAC gnomAD
CA399610421 rs776110979	434	P>R		No	ClinGen ExAC gnomAD
rs377741924 CA8579256	435	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312938984 CA399610370	437	D>E		No	ClinGen gnomAD
rs1245524121 CA399610326	440	T>I		No	ClinGen TOPMed gnomAD
rs147763292 CA8579255	442	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567919831 CA399610276	444	G>R		No	ClinGen Ensembl
TCGA novel	448	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747174524 CA8579252	449	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8579250 rs754760711	451	D>E		No	ClinGen ExAC gnomAD
rs1329369518 CA399610155	451	D>H		No	ClinGen TOPMed
rs1329369518 CA399610152	451	D>N		No	ClinGen TOPMed
CA399610134 rs749117893	452	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs749117893 CA399610136	452	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs779940730 CA8579248	452	Q>H		No	ClinGen ExAC gnomAD
rs749117893 CA8579249	452	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA8579247 rs755968915	453	S>L		No	ClinGen ExAC gnomAD
CA290784909 rs999285669	457	Q>H		No	ClinGen TOPMed
rs766882836 CA8579245	459	D>A		No	ClinGen ExAC gnomAD
CA399610023 rs1362368883	459	D>H		No	ClinGen TOPMed gnomAD
CA8579244 rs371107972	461	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304314321 CA399609987	461	A>V		No	ClinGen Ensembl
CA8579243 COSM1302849 rs751254427	463	S>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs775949227 CA8579240	464	R>G		No	ClinGen ExAC gnomAD
rs575678530 CA8579239	466	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD

No associated diseases with Q86VR2

3 regional properties for Q86VR2

Type	Name	Position	InterPro Accession
domain	HD/PDEase domain	71 - 228	IPR003607
domain	HD domain	75 - 219	IPR006674
domain	Phosphohydrolase-associated domain	306 - 396	IPR026875

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass membrane protein	Localizes preferentially to endoplasmic reticulum tubules and sheet edges
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

1 GO annotations of molecular function

Name	Definition
endoplasmic reticulum-autophagosome adaptor activity	The binding activity of a molecule that brings together an ER membrane and an autophagosome during reticulophagy.

4 GO annotations of biological process

Name	Definition
collagen catabolic process	The proteolytic chemical reactions and pathways resulting in the breakdown of collagen in the extracellular matrix, usually carried out by proteases secreted by nearby cells.
endoplasmic reticulum organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
reticulophagy	The selective autohagy process in which parts of the endoplasmic reticulum are loaded into autophagosomes, delivered to the vacuole, and degraded in response to changing cellular conditions.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5E9K8	RETREG1	Reticulophagy regulator 1	Bos taurus (Bovine)	PR
Q9H6L5	RETREG1	Reticulophagy regulator 1	Homo sapiens (Human)	PR
Q6NS82	Retreg2	Reticulophagy regulator 2	Mus musculus (Mouse)	PR
Q9CQV4	Retreg3	Reticulophagy regulator 3	Mus musculus (Mouse)	PR
Q0P4Z1	retreg3	Reticulophagy regulator 3	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MAEAEGVPTT	PGPASGSTFR	GRRDVSGSWE	RDQQVEAAQR	ALVEVLGPYE	PLLSRVQAAL
70	80	90	100	110	120
VWERPARSAL	WCLGLNAAFW	FFALTSLRLV	FLLAFGLMII	VCIDQWKNKI	WPEIKVPRPD
130	140	150	160	170	180
ALDNESWGFV	HPRLLSVPEL	CHHVAEVWVS	GTIFIRNVLL	FKKQNPGKFC	LLSCGILTFL
190	200	210	220	230	240
AVLGRYVPGL	LLSYLMLVTV	MMWPLAVYHR	LWDRAYVRLK	PALQRLDFSV	RGYMMSKQRE
250	260	270	280	290	300
RQLRRRALHP	ERAMDNHSDS	EEELAAFCPQ	LDDSTVAREL	AITDSEHSDA	EVSCTDNGTF
310	320	330	340	350	360
NLSRGQTPLT	EGSEDLDGHS	DPEESFARDL	PDFPSINMDP	AGLDDEDDTS	IGMPSLMYRS
370	380	390	400	410	420
PPGAEEPQAP	PASRDEAALP	ELLLGALPVG	SNLTSNLASL	VSQGMIQLAL	SGASQPGPSG
430	440	450	460
APAQRATRGF	LRSPSSDLDT	DAEGDDFELL	DQSELSQLDP	ASSRSH