AiPD: Autoinhibited Protein Database

Q8N2U9

Gene name	SLC66A2
Protein name	Solute carrier family 66 member 2
Names	PQ-loop repeat-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80148
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

68-154 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

68-154 (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 Q8N2U9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N2U9-F1	Predicted				AlphaFoldDB

279 variants for Q8N2U9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs373545819 CA9011504	2	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9011503 rs776561436	3	A>S		No	ClinGen ExAC gnomAD
CA402838355 rs1222560563	3	A>V		No	ClinGen TOPMed gnomAD
CA402838354 rs1289978997	4	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1309164744 CA402838339	6	L>V		No	ClinGen gnomAD
CA402838332 rs1321177685	7	D>G		No	ClinGen TOPMed
rs931747024 CA303815003	8	W>*		No	ClinGen TOPMed gnomAD
CA402838323 rs931747024	8	W>L		No	ClinGen TOPMed gnomAD
CA402838326 rs1238682433	8	W>R		No	ClinGen gnomAD
rs1305168542 CA402838317	9	L>F		No	ClinGen TOPMed
rs771888362 CA9011499	9	L>H		No	ClinGen ExAC TOPMed gnomAD
CA9011496 rs749323876	12	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9011495 rs749323876	12	P>R		No	ClinGen ExAC TOPMed gnomAD
CA303814963 rs111796089	14	H>L		No	ClinGen Ensembl
CA9011493 rs756555931 CA9011494	14	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA402838272 rs1599681474	17	V>G		No	ClinGen Ensembl
CA303814949 rs867632983	18	S>F		No	ClinGen TOPMed gnomAD
rs1427304333 CA402838270	18	S>T		No	ClinGen gnomAD
CA402838267 rs867632983	18	S>Y		No	ClinGen TOPMed gnomAD
rs1477786349 CA402838261	19	W>S		No	ClinGen gnomAD
CA402838243 rs1267039439	22	A>T		No	ClinGen gnomAD
CA9011491 rs781654591	23	A>S		No	ClinGen ExAC TOPMed gnomAD
rs757717280 CA9011490	23	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752337487 CA9011489	25	M>I		No	ClinGen ExAC gnomAD
CA303814918 rs983067581	25	M>T		No	ClinGen gnomAD
CA303814912 rs578021350	26	V>A		No	ClinGen gnomAD
rs1314498910 CA402838221	26	V>I		No	ClinGen gnomAD
rs765957443 CA9011485 CA303814900	30	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9011484 rs539899520	31	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1297401510 CA402838185	32	P>S		No	ClinGen gnomAD
rs767244950 CA9011482	34	V>F		No	ClinGen ExAC gnomAD
rs114092865 CA303814886	35	P>R		No	ClinGen 1000Genomes
rs145964219 CA9011480	36	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs145964219 CA402838162	36	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA402838145 rs1478293523	38	R>P		No	ClinGen gnomAD
CA402838146 rs1478293523	38	R>Q		No	ClinGen gnomAD
CA402838147 rs1390418743	38	R>W		No	ClinGen TOPMed
rs770022926 CA9011476	39	D>G		No	ClinGen ExAC gnomAD
CA9011477 rs775401070	39	D>N		No	ClinGen ExAC gnomAD
CA9011475 rs746325682	41	R>G		No	ClinGen ExAC
rs150042611 CA9011474	41	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA402838128 rs150042611	41	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	42	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757625428 CA402838110	44	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA9011473 rs757625428	44	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1333416057 CA402838096	46	A>D		No	ClinGen TOPMed
CA9011472 rs747326697	46	A>S		No	ClinGen ExAC gnomAD
rs1480529300 CA402838090	47	D>A		No	ClinGen TOPMed
rs1423671115 CA402838087	47	D>E		No	ClinGen gnomAD
rs1266446323 CA402838091	47	D>N		No	ClinGen TOPMed
CA303814841 rs139356651	50	S>A		No	ClinGen ESP TOPMed
rs907578847 CA303814838	50	S>F		No	ClinGen TOPMed
CA402838065 rs1599680658	51	T>P		No	ClinGen Ensembl
rs150915352 CA9011469	52	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9011466 rs750294868	54	C>S		No	ClinGen ExAC gnomAD
rs1411371380 CA402838046	54	C>Y		No	ClinGen gnomAD
CA402838038 rs1172945470	55	L>P		No	ClinGen gnomAD
TCGA novel	56	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402838031 rs1599680534	56	V>G		No	ClinGen Ensembl
TCGA novel	58	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599680474 CA402838015	59	V>G		No	ClinGen Ensembl
CA402838018 rs1166864076	59	V>L		No	ClinGen TOPMed
CA402838005 rs1257376529	61	N>S		No	ClinGen gnomAD
CA9011463 rs751290398	62	I>V		No	ClinGen ExAC gnomAD
TCGA novel	63	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402837985 rs1484369347	64	R>Q		No	ClinGen gnomAD
rs763989959 CA9011461	65	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9011421 rs565426699	72	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402837729 rs1198213695	72	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1198213695 CA402837730	72	R>P		No	ClinGen TOPMed gnomAD
CA402837720 rs1434310858	74	E>K		No	ClinGen TOPMed
CA9011420 rs765168124	76	P>A		No	ClinGen ExAC gnomAD
rs755214643 CA9011419	76	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766510937 CA9011417	78	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	80	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760816717 CA9011416	82	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1342635542 CA402837662	83	I>V		No	ClinGen TOPMed gnomAD
CA402837655 rs1342672630	84	M>L		No	ClinGen TOPMed
CA402837643 rs1430468055	85	I>T		No	ClinGen gnomAD
rs1336705960 CA402837639	86	L>V		No	ClinGen gnomAD
CA402837634 rs1276022440	87	T>A		No	ClinGen TOPMed
rs115254500 CA402837631	87	T>I		No	ClinGen 1000Genomes TOPMed
rs115254500 CA303809702	87	T>N		No	ClinGen 1000Genomes TOPMed
rs980581072 CA303809697	88	M>V		No	ClinGen TOPMed
CA9011413 rs561503238	90	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA9011412 rs774667935	91	M>L		No	ClinGen ExAC gnomAD
CA402837591 rs769038897	94	L>V		No	ClinGen ExAC gnomAD
CA9011410 rs369483320	95	C>Y		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA402837576 rs1568336385	96	T>S		No	ClinGen Ensembl
rs1240188733 CA402837574	97	E>K		No	ClinGen gnomAD
rs1189490587 CA402837563	98	V>D		No	ClinGen TOPMed gnomAD
rs1189490587 CA402837561	98	V>G		No	ClinGen TOPMed gnomAD
rs746522366 CA9011407	99	R>C		No	ClinGen ExAC gnomAD
COSM1303878 rs777201591 CA402837558	99	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs777201591 CA9011406	99	R>P		No	ClinGen ExAC TOPMed
rs1320186362 CA402837551	100	V>A		No	ClinGen gnomAD
CA9011404 rs368520063	102	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141580922 CA402837539	102	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9011402 rs778805606	102	N>S		No	ClinGen ExAC TOPMed gnomAD
CA402837535 rs1386593920	103	E>A		No	ClinGen TOPMed
rs1252045513 CA402837528	104	L>F		No	ClinGen gnomAD
rs766620662 CA9011399	105	N>I		No	ClinGen ExAC gnomAD
CA9011400 rs754050413	105	N>Y		No	ClinGen ExAC
rs767534778 CA9011396	106	A>G		No	ClinGen ExAC gnomAD
rs750494826 CA9011397	106	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1329087570 CA402837514	107	R>G		No	ClinGen gnomAD
CA303809593 rs750910076	107	R>S		No	ClinGen ExAC TOPMed gnomAD
rs36097147 CA9011393	108	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9011392 rs139297349	108	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9011390 rs116195130	109	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9011391 rs116195130	109	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772743648 CA9011388	109	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9011389 rs772743648	109	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1459134949 CA402837487	112	T>A		No	ClinGen gnomAD
CA402837484 rs371932324	112	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs371932324 CA9011386	112	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9011347 rs754300691	114	A>E		No	ClinGen ExAC TOPMed gnomAD
rs754300691 CA402837461	114	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402837458 rs1446382577	115	D>Y		No	ClinGen TOPMed
rs1399023661 CA402837450	116	S>C		No	ClinGen gnomAD
CA402837452 rs1399023661	116	S>G		No	ClinGen gnomAD
rs143800147 CA9011346	120	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs773968258 CA9011343	124	A>S		No	ClinGen ExAC gnomAD
rs768315049 CA9011342	126	R>G		No	ClinGen ExAC gnomAD
CA402837374 rs775301153	127	R>L		No	ClinGen ExAC gnomAD
CA9011340 rs775301153	127	R>Q		No	ClinGen ExAC gnomAD
rs776502305 CA9011341	127	R>W		No	ClinGen ExAC TOPMed gnomAD
CA303804434 rs1038967297	128	S>F		No	ClinGen Ensembl
rs769562718 CA9011339	128	S>P		No	ClinGen ExAC gnomAD
CA402835883 rs1319861471	131	D>G		No	ClinGen gnomAD
rs1599549759 CA402835870	132	F>L		No	ClinGen Ensembl
CA402835849 rs1599549694	133	D>A		No	ClinGen Ensembl
rs748167009 CA9011314 COSM990116	133	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9011315 rs748167009	133	D>Y		No	ClinGen ExAC gnomAD
rs575102840 CA9011313	134	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	136	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219832225 CA402835810	136	H>Y		No	ClinGen TOPMed
rs1163429766 CA402835793	137	F>V		No	ClinGen gnomAD
CA9011312 rs755410098	138	W>C		No	ClinGen ExAC gnomAD
CA402835766 rs1197135072	139	Q>*		No	ClinGen TOPMed gnomAD
CA402835762 rs1197135072	139	Q>K		No	ClinGen TOPMed gnomAD
rs201323361 CA402835758	139	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA9011311 rs201323361	139	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs780520150 CA9011310	140	W>C		No	ClinGen ExAC TOPMed gnomAD
rs556201315 CA9011309	141	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1471227404 CA402835720	142	S>N		No	ClinGen TOPMed
rs751189042 CA9011308	142	S>R		No	ClinGen ExAC
rs1177804518 CA402835708	143	F>L		No	ClinGen TOPMed
rs114615170 COSM990115 CA9011307	144	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA303795904 rs866610393	145	D>N		No	ClinGen gnomAD
rs866610393 CA402835675	145	D>Y		No	ClinGen gnomAD
rs375190137 CA9011305	146	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs776569036 CA9011300	147	V>G		No	ClinGen ExAC TOPMed gnomAD
rs759347267 CA9011303	147	V>L		No	ClinGen ExAC gnomAD
rs759347267 CA9011301	147	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760461464 CA9011298	148	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9011296 rs772165178	149	C>S		No	ClinGen ExAC gnomAD
CA402835597 rs373259554	149	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9011294 rs369594354	150	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs199805905 CA303795875	152	A>T		No	ClinGen 1000Genomes
rs780710194 CA9011291	153	F>C		No	ClinGen ExAC gnomAD
CA9011290 rs770487880	154	T>M		No	ClinGen ExAC TOPMed gnomAD
rs757953021 CA9011287	155	G>D		No	ClinGen ExAC gnomAD
rs191651723 CA9011285	156	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs150340109 CA402835540	157	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs150340109 CA9011284	157	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1407034649 CA402835529	159	Y>C		No	ClinGen gnomAD
rs888840002 CA303795858	159	Y>H		No	ClinGen TOPMed gnomAD
rs1302961436 CA402835525	160	I>L		No	ClinGen TOPMed gnomAD
rs1302961436 CA402835524	160	I>V		No	ClinGen TOPMed gnomAD
rs1423220620 CA402835518	161	T>P		No	ClinGen gnomAD
rs750192280 CA9011280	161	T>S		No	ClinGen ExAC gnomAD
CA402835508 rs1453851039	162	Y>F		No	ClinGen gnomAD
rs1475426574 CA402835512	162	Y>H		No	ClinGen TOPMed
rs761893159 CA9011278	163	L>V		No	ClinGen ExAC gnomAD
CA402835494 rs774648165	165	I>F		No	ClinGen ExAC TOPMed gnomAD
CA9011275 rs763119703	165	I>M		No	ClinGen ExAC gnomAD
rs768553253 CA9011276	165	I>T		No	ClinGen ExAC TOPMed gnomAD
CA9011277 rs774648165	165	I>V		No	ClinGen ExAC TOPMed gnomAD
CA402835481 rs1489822369	167	S>A		No	ClinGen gnomAD
CA303795811 rs114579767	168	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9011273 rs114579767	168	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781368119 CA9011271	170	F>L		No	ClinGen ExAC gnomAD
rs1315417902 CA402835457	171	V>A		No	ClinGen TOPMed
CA402835452 rs1324546695	172	E>A		No	ClinGen gnomAD
CA9011269 rs747696074	172	E>D		No	ClinGen ExAC gnomAD
CA9011268 rs61735018	173	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402835448 rs1403480901	173	T>P		No	ClinGen gnomAD
CA402835446 rs1403480901	173	T>S		No	ClinGen gnomAD
rs753327216 CA9011266	174	L>V		No	ClinGen ExAC gnomAD
VAR_035979	175	G>A	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
rs200664421 CA9011265	178	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200664421 CA402835416	178	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9011264 rs756006525	180	L>M		No	ClinGen ExAC gnomAD
rs1374622182 CA402835397	182	E>A		No	ClinGen gnomAD
CA9011262 rs767160813	182	E>K		No	ClinGen ExAC gnomAD
CA9011261 rs564712147	184	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs910067113 CA303795742	186	G>S		No	ClinGen Ensembl
CA402835357 rs1568306664	188	P>L		No	ClinGen Ensembl
CA9011258 rs763315416	189	Q>*		No	ClinGen ExAC gnomAD
rs1192688604 CA402835353	189	Q>R		No	ClinGen TOPMed
rs775679883 CA9011257	190	L>F		No	ClinGen ExAC gnomAD
CA402835343 rs1221959810	191	Y>H		No	ClinGen TOPMed gnomAD
CA402835341 rs1599548309	191	Y>S		No	ClinGen Ensembl
rs528372880 CA9011256	192	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9011255 rs760068053	192	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402835335 rs528372880	192	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1423998765 CA402835331	193	N>D		No	ClinGen TOPMed
CA9011254 rs777206274	193	N>S		No	ClinGen ExAC TOPMed gnomAD
rs777206274 CA402835328	193	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1599548232 CA402835321	194	H>P		No	ClinGen Ensembl
CA9011253 rs376654152	195	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1317887030 CA9011251	195	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1454104114 CA402835311	196	H>Y		No	ClinGen TOPMed gnomAD
rs866012471 CA303795727	197	Q>H		No	ClinGen Ensembl
CA402835294 rs747389517	198	S>C		No	ClinGen ExAC TOPMed gnomAD
CA9011250 rs747389517	198	S>F		No	ClinGen ExAC TOPMed gnomAD
CA402835297 rs1406254120	198	S>P		No	ClinGen gnomAD
CA9011249 rs773500920	199	T>M		No	ClinGen ExAC TOPMed gnomAD
rs150969347 CA9011247	200	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA402835288 rs1168290832	200	E>K		No	ClinGen gnomAD
rs1599548065 CA402835281	201	G>C		No	ClinGen Ensembl
CA303795724 rs201846863	201	G>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA9011246 rs779490691	202	M>V		No	ClinGen ExAC gnomAD
rs1427314584 CA402835244	204	I>F		No	ClinGen gnomAD
TCGA novel	204	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA303785907 rs534487579	204	I>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs773606862 CA9011213	206	M>I		No	ClinGen ExAC gnomAD
rs1304766612 CA402835229	206	M>L		No	ClinGen gnomAD
rs1364899427 CA402835220	207	V>L		No	ClinGen gnomAD
CA402835210 rs1162665432	208	L>F		No	ClinGen gnomAD
CA402835207 rs1261043479	208	L>P		No	ClinGen TOPMed
CA402835205 CA402835203 rs1408855595	209	M>L		No	ClinGen gnomAD
CA303785887 rs961104811	209	M>R		No	ClinGen TOPMed
rs938353914 CA303785886	210	W>C		No	ClinGen TOPMed
CA402835160 rs1568285086	214	D>N		No	ClinGen Ensembl
rs769412729 CA9011209	215	A>T		No	ClinGen ExAC gnomAD
rs759150341 CA9011208	216	F>V		No	ClinGen ExAC TOPMed gnomAD
rs776166902 CA9011207	217	K>*		No	ClinGen ExAC TOPMed gnomAD
CA303785868 rs756244013	217	K>R		No	ClinGen Ensembl
rs770370277 CA9011206	218	T>M		No	ClinGen ExAC gnomAD
CA402835122 rs1218611033	219	A>T		No	ClinGen gnomAD
rs548375991 CA9011205	222	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs777853974 CA9011204	224	K>N		No	ClinGen ExAC gnomAD
rs1326647031 CA402835064	227	P>S		No	ClinGen gnomAD
rs1405314250 CA402835048	229	Q>R		No	ClinGen gnomAD
CA9011199 rs755190661	232	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1317754187 CA402835025	233	C>R		No	ClinGen gnomAD
rs1177514004 CA402835016	234	G>D		No	ClinGen TOPMed gnomAD
CA9011195 rs750570068	234	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402835009 rs1489334570	235	L>P		No	ClinGen TOPMed
rs201258274 CA9011192	238	V>L		No	ClinGen ExAC TOPMed gnomAD
rs759178516 CA9011190	242	L>V		No	ClinGen ExAC TOPMed gnomAD
CA9011186 rs772913035	247	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	248	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421046362 CA402834926	249	Y>C		No	ClinGen TOPMed
rs1421046362 CA402834925	249	Y>F		No	ClinGen TOPMed
CA9011184 rs748130622	250	A>D		No	ClinGen ExAC gnomAD
CA402834921 rs1298948658	250	A>T		No	ClinGen gnomAD
rs749461126 CA9011181	252	A>D		No	ClinGen ExAC gnomAD
rs371850458 CA9011182	252	A>T		No	ClinGen ESP ExAC gnomAD
CA9011180 rs148418095	253	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756418494 CA9011179	253	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9011176 rs757720856	254	H>N		No	ClinGen ExAC TOPMed gnomAD
CA9011177 rs757720856	254	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs752081888 CA9011175	256	Q>L		No	ClinGen ExAC gnomAD
CA9011174 rs145814903	258	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9011172 rs371842921	259	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9011171 rs765932149	261	H>Y		No	ClinGen ExAC gnomAD
CA9011169 rs772812185	262	A>T		No	ClinGen ExAC TOPMed gnomAD
rs767161726 CA9011168	262	A>V		No	ClinGen ExAC gnomAD
rs768710041 CA9011166	263	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768710041 COSM1221846 CA9011165	263	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1273793049 CA402834837	264	H>Q		No	ClinGen gnomAD
rs1226158412 CA402834833	265	P>S		No	ClinGen gnomAD
CA402834824 rs1385024542	266	T>I		No	ClinGen gnomAD
rs1232258141 CA402834818	267	G>V		No	ClinGen Ensembl
CA402834793 rs1599462416	271	L>P		No	ClinGen Ensembl
rs754432969 CA9011164	272	L>L		No	ClinGen ExAC gnomAD

No associated diseases with Q8N2U9

2 regional properties for Q8N2U9

Type	Name	Position	InterPro Accession
repeat	PQ-loop repeat	18 - 75	IPR006603-1
repeat	PQ-loop repeat	171 - 229	IPR006603-2

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
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.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
phospholipid translocation	The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.
retrograde transport, endosome to Golgi	The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q80XM9	Slc66a2	Solute carrier family 66 member 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEAEGLDWLL	VPLHQLVSWG	AAAAMVFGGV	VPYVPQYRDI	RRTQNADGFS	TYVCLVLLVA
70	80	90	100	110	120
NILRILFWFG	RRFESPLLWQ	SAIMILTMLL	MLKLCTEVRV	ANELNARRRS	FTAADSKDEE
130	140	150	160	170	180
VKVAPRRSFL	DFDPHHFWQW	SSFSDYVQCV	LAFTGVAGYI	TYLSIDSALF	VETLGFLAVL
190	200	210	220	230	240
TEAMLGVPQL	YRNHRHQSTE	GMSIKMVLMW	TSGDAFKTAY	FLLKGAPLQF	SVCGLLQVLV
250	260	270
DLAILGQAYA	FARHPQKPAP	HAVHPTGTKA	L