AiPD: Autoinhibited Protein Database

Q969R8

Gene name	ITFG2
Protein name	KICSTOR complex protein ITFG2
Names	Integrin-alpha FG-GAP repeat-containing protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55846
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

201-278 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

201-278 (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 Q969R8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q969R8-F1	Predicted				AlphaFoldDB

369 variants for Q969R8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs761398198 CA6390646	2	R>T		No	ClinGen ExAC TOPMed gnomAD
CA6390648 rs772882740	4	V>I		No	ClinGen ExAC TOPMed gnomAD
CA383391876 rs772882740	4	V>L		No	ClinGen ExAC TOPMed gnomAD
rs565678006 CA231657534	5	S>T		No	ClinGen 1000Genomes gnomAD
rs762644040 CA6390649	6	Y>C		No	ClinGen ExAC gnomAD
CA383391899 rs1303372209	6	Y>N		No	ClinGen TOPMed
CA6390650 rs369224340	7	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA383391931 rs1379813863	8	Q>L		No	ClinGen gnomAD
CA231657543 rs922239753	9	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs922239753 CA231657541	9	R>G		No	ClinGen TOPMed
rs1160932839 CA383391955	10	V>A		No	ClinGen gnomAD
CA383391953 rs1160932839	10	V>E		No	ClinGen gnomAD
rs753129997 CA6390651	10	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA383391964 rs1603482101	11	A>T		No	ClinGen Ensembl
rs764678751 CA6390653	13	E>K		No	ClinGen ExAC TOPMed gnomAD
CA231657578 rs201298538	14	F>L		No	ClinGen gnomAD
CA383392066 rs1180552766	15	S>N		No	ClinGen TOPMed
CA383392163 rs1439631587	19	F>L		No	ClinGen gnomAD
rs1307855549 CA383392177	20	P>L		No	ClinGen gnomAD
rs1241708333 CA383392186	21	H>Y		No	ClinGen gnomAD
CA6390655 rs150848024	23	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383392284 rs1280545207	26	G>A		No	ClinGen gnomAD
rs779169520 CA6390656	26	G>R		No	ClinGen ExAC gnomAD
CA6390658 rs750646933	27	D>E		No	ClinGen ExAC gnomAD
rs7315685 CA231657596	27	D>N		No	ClinGen Ensembl
CA383392323 rs1237836900	28	V>A		No	ClinGen gnomAD
rs1202745719 CA383392317	28	V>I		No	ClinGen TOPMed gnomAD
rs1482302638 CA383392337	29	D>G		No	ClinGen TOPMed
CA231657611 rs987473725	29	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA231657625 rs527760138	31	D>A		No	ClinGen gnomAD
CA383392369 rs1180591933	31	D>N		No	ClinGen gnomAD
rs779988252	32	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1478020512 CA383392397	32	T>M		No	ClinGen gnomAD
rs1193383088 CA383393454	33	L>I		No	ClinGen gnomAD
rs908716475 CA383393487	35	E>*		No	ClinGen TOPMed
rs908716475 CA231662366	35	E>Q		No	ClinGen TOPMed
rs769039102 CA6390688	37	V>A		No	ClinGen ExAC TOPMed gnomAD
rs745551009 CA6390687	37	V>L		No	ClinGen ExAC TOPMed gnomAD
rs941495103 CA231662389	38	V>A		No	ClinGen Ensembl
CA6390689 rs776915084	39	G>A		No	ClinGen ExAC gnomAD
rs1457919339 CA383393524	40	D>V		No	ClinGen gnomAD
CA383393545 rs1419073382	43	G>A		No	ClinGen TOPMed gnomAD
CA383393541 rs1158059482	43	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6390691 rs765841793	47	V>A		No	ClinGen ExAC gnomAD
rs184942906 CA231662416	47	V>M		No	ClinGen 1000Genomes TOPMed
rs1188646531 CA383393576	48	Y>*		No	ClinGen TOPMed
rs773365466 CA6390692	48	Y>C		No	ClinGen ExAC gnomAD
rs376740468 CA6390693	49	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA383393592 rs941557375	50	N>K		No	ClinGen TOPMed
rs1166849142 CA383393600	51	D>E		No	ClinGen gnomAD
CA383393595 rs1340096338	51	D>Y		No	ClinGen gnomAD
rs766668116 CA6390694	53	S>G		No	ClinGen ExAC TOPMed gnomAD
rs574513228 CA6390695	53	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs767340383 CA6390697	54	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6390696 rs373623534	54	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383393632 rs1323249894	56	W>C		No	ClinGen gnomAD
CA383393641 rs1323934707	58	T>S		No	ClinGen TOPMed
CA383393675 rs1199108559	63	G>R		No	ClinGen gnomAD
CA383393682 rs1254967323	64	M>V		No	ClinGen gnomAD
CA6390722 rs546295725	66	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs778477859 CA6390723	68	V>I		No	ClinGen ExAC gnomAD
rs749902354 CA6390724	69	G>R		No	ClinGen ExAC gnomAD
CA6390725 rs746170998	70	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746170998 CA383393730	70	V>L		No	ClinGen ExAC TOPMed gnomAD
rs779592612 CA6390726	71	G>R		No	ClinGen ExAC gnomAD
rs147234240 CA231663394	72	D>V		No	ClinGen ESP TOPMed
CA6390728 rs568574723	73	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6390729 rs568574723	73	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs749808768 CA6390730	77	G>E		No	ClinGen ExAC TOPMed
CA383393781 rs1418333923	78	K>E		No	ClinGen gnomAD
CA6390751 rs200862282	80	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs772026053 CA6390752	83	A>P		No	ClinGen ExAC gnomAD
CA383393910 rs1166820920	89	W>C		No	ClinGen gnomAD
CA231663695 rs933183258	91	H>R		No	ClinGen Ensembl
TCGA novel	92	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1279638644 CA383393964	93	F>L		No	ClinGen gnomAD
rs1603482752 CA383393986	94	D>A		No	ClinGen Ensembl
rs368815825 CA6390754 COSM394962	94	D>Y	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA383394027 rs1227241995	97	P>S		No	ClinGen gnomAD
CA6390755 rs199535617	98	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201588528 CA6390756	98	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1253924317 CA383394049	99	K>E		No	ClinGen TOPMed
rs761620739 CA6390757	101	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1285248991 CA383394120	103	A>V		No	ClinGen gnomAD
rs1603482756 CA383394156	106	H>P		No	ClinGen Ensembl
CA231663741 rs1052032525	107	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	108	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6390759 rs772993429	108	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs551874254 CA6390762	112	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754618933 CA6390763	114	E>G		No	ClinGen ExAC gnomAD
CA6390764 rs767298903	116	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6390765 rs565413873 COSM1210960	116	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6390766 rs565413873	116	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383394350 rs1158121075	118	V>A		No	ClinGen TOPMed
TCGA novel	118	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357059382 CA383394396	121	Q>*		No	ClinGen TOPMed gnomAD
rs1446898110 CA383394401	121	Q>R		No	ClinGen TOPMed gnomAD
CA383394432 rs1414627060	123	I>V		No	ClinGen gnomAD
rs1384301016 CA383394450	124	P>T		No	ClinGen gnomAD
CA231663794 rs886234920	127	T>P		No	ClinGen gnomAD
CA383394497 rs1308357156	128	K>R		No	ClinGen gnomAD
CA6390768 rs746343805	129	V>I		No	ClinGen ExAC gnomAD
rs759006773 CA6390769	130	M>I		No	ClinGen ExAC gnomAD
rs780046954 CA6390770	133	S>T		No	ClinGen ExAC gnomAD
CA231663816 rs576075732	134	D>A		No	ClinGen Ensembl
rs1005215879 CA231663808	134	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs374998892	135	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs747109095 CA383394595	135	I>F		No	ClinGen ExAC TOPMed gnomAD
CA6390771 rs747109095	135	I>V		No	ClinGen ExAC TOPMed gnomAD
CA383394990 rs1358349043	136	D>G		No	ClinGen gnomAD
COSM1210959 rs534541245 CA6390773	136	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA383394608 rs534541245	136	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781245944 CA6390811	137	G>E		No	ClinGen ExAC gnomAD
CA383395019 rs1396289603	138	D>N		No	ClinGen TOPMed
CA383395068 rs1301466177	140	C>R		No	ClinGen gnomAD
rs903717969 COSM1210961 CA231666145	141	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs373063840 CA6390812	141	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6390813 rs373063840	141	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6390814 RCV000497930 rs778087371	142	E>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs749511053 CA6390815	143	L>P		No	ClinGen ExAC gnomAD
CA383395276 rs1356219909	150	R>C		No	ClinGen gnomAD
CA383395285 rs1223824337	150	R>H		No	ClinGen gnomAD
CA383395312 rs1487481212	151	V>G		No	ClinGen gnomAD
CA6390817 rs778907558	152	V>A		No	ClinGen ExAC gnomAD
rs1261994573 CA383395331	153	R>*		No	ClinGen gnomAD
CA383395330 rs1261994573	153	R>G		No	ClinGen gnomAD
CA383395334 rs1429996518	153	R>Q		No	ClinGen gnomAD
rs376269449 CA231666222	156	R>C		No	ClinGen ESP TOPMed gnomAD
rs554016203 CA6390818	156	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs376269449 CA383395366	156	R>S		No	ClinGen ESP TOPMed gnomAD
CA6390819 rs772137151	157	W>*		No	ClinGen ExAC gnomAD
rs1236675490 CA383395403	158	E>D		No	ClinGen TOPMed gnomAD
CA383395418 rs774801587	159	E>D		No	ClinGen ExAC gnomAD
rs1385917469 CA383395437	161	G>D		No	ClinGen gnomAD
TCGA novel	163	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768156895 CA6390822	166	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs776318594 CA6390823	167	L>V		No	ClinGen ExAC gnomAD
CA383395525 rs761504082	168	T>I		No	ClinGen ExAC gnomAD
rs761504082 CA6390824	168	T>R		No	ClinGen ExAC gnomAD
TCGA novel	169	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA231666285 rs961308287	170	Q>R		No	ClinGen TOPMed
CA383395570 rs1352244696	172	V>E		No	ClinGen gnomAD
CA383395564 rs1317700892	172	V>M		No	ClinGen gnomAD
CA6390826 rs751988994	173	S>F		No	ClinGen ExAC gnomAD
TCGA novel	174	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA231666299 COSM174797 rs993786898	175	K>N	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
COSM321055 CA231666305 rs1026967952	177	W>*	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs759969136 CA6390827	178	M>I		No	ClinGen ExAC gnomAD
rs185016186 CA231666325	180	E>D		No	ClinGen 1000Genomes
CA383395662 rs1461323691	180	E>K		No	ClinGen gnomAD
CA6390829 rs752677731	181	G>D		No	ClinGen ExAC gnomAD
CA6390828 rs768090911	181	G>S		No	ClinGen ExAC gnomAD
CA383396275 rs1428849414	183	V>L		No	ClinGen TOPMed gnomAD
CA383396274 rs1428849414	183	V>M		No	ClinGen TOPMed gnomAD
CA383396296 rs1470456387	186	L>F		No	ClinGen gnomAD
CA6390844 rs573983315	190	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	192	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140728858 CA6390845	192	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA383396341 rs1174339749	194	G>S		No	ClinGen gnomAD
TCGA novel	198	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144639569 CA231667131	199	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6390847 rs144639569	199	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA383396417 rs1323692853	201	S>P		No	ClinGen TOPMed
TCGA novel	202	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293700637 CA383396443	203	P>S		No	ClinGen TOPMed
rs776042281 CA6390848	205	C>*		No	ClinGen ExAC gnomAD
CA6390849 rs370764849	206	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1210963 rs1345716211 CA383396487	206	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA383396496 rs1565413850	207	Y>S		No	ClinGen Ensembl
CA231667173 rs948991029	208	A>T		No	ClinGen gnomAD
TCGA novel	208	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148451445 CA231667189	209	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs148451445 CA6390851	209	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6390852 rs757493974	210	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1288505412 CA383396545	212	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA383396548 rs1304141674	212	C>Y		No	ClinGen TOPMed
CA383396561 rs1443118354	213	T>A		No	ClinGen gnomAD
rs750207163 CA6390854	213	T>I		No	ClinGen ExAC gnomAD
rs750207163 CA383396563	213	T>N		No	ClinGen ExAC gnomAD
CA383396578 rs1429601543	214	W>S		No	ClinGen TOPMed
CA6390858 rs575134327	215	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs780687011 CA6390859	216	K>E		No	ClinGen ExAC gnomAD
CA231667258 rs977000036	217	D>N		No	ClinGen TOPMed
rs1421777642 CA383396622	218	T>N		No	ClinGen gnomAD
rs1171291253 CA383396639	221	P>L		No	ClinGen gnomAD
CA6390862 rs543991183	222	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA231667279 rs150956987	222	P>L		No	ClinGen ESP TOPMed
CA6390865 rs775781549	228	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764518740 CA6390867	230	G>V		No	ClinGen ExAC gnomAD
CA6390869 rs772237742	231	S>G		No	ClinGen ExAC gnomAD
CA6390868 rs772237742	231	S>R		No	ClinGen ExAC gnomAD
rs1183135841 CA383396753	233	E>D		No	ClinGen gnomAD
CA231667789 rs897063632	234	T>N		No	ClinGen TOPMed gnomAD
CA383396756 rs1603483098	234	T>P		No	ClinGen Ensembl
rs1401672906 CA383396774	235	P>L		No	ClinGen gnomAD
rs199660177 CA6390888	235	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6390889 rs763169943	236	A>T		No	ClinGen ExAC gnomAD
rs766524011 CA6390890	237	A>S		No	ClinGen ExAC TOPMed gnomAD
CA383396794 rs1451276532	238	R>G		No	ClinGen TOPMed gnomAD
CA6390891 rs200582816	238	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs146655165 CA6390895	240	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6390894 rs146655165	240	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383396853 rs1310721612	243	H>P		No	ClinGen gnomAD
CA383396850 rs1286600277	243	H>Y		No	ClinGen gnomAD
CA383396871 rs1203091908	244	Q>H		No	ClinGen gnomAD
CA383396886 rs1263878436	245	T>I		No	ClinGen gnomAD
CA6390899 rs375803939	247	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs140247675 CA6390900	248	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs150266212 CA6390901	248	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA231667899 rs755824575	249	I>M		No	ClinGen TOPMed gnomAD
rs781729304 CA6390902	249	I>T		No	ClinGen ExAC gnomAD
rs1471753134 CA383396991	251	N>K		No	ClinGen TOPMed
CA383397034 rs1176744517	253	N>S		No	ClinGen gnomAD
CA383397044 rs1407587582	254	V>I		No	ClinGen TOPMed gnomAD
CA231667924 rs949685247	255	S>F		No	ClinGen TOPMed
CA6390903 rs748664002	256	T>P		No	ClinGen ExAC gnomAD
rs1446075839 CA383397088	256	T>S		No	ClinGen TOPMed
rs1328020820 CA383397106	257	H>Q		No	ClinGen gnomAD
rs770430549 CA6390904	259	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA383397140 rs1343842611	260	G>S		No	ClinGen gnomAD
TCGA novel	261	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383397192 rs1224245031	262	I>M		No	ClinGen TOPMed
CA383397387 rs1161335565	265	G>D		No	ClinGen gnomAD
rs1223092690 CA383397254	265	G>R		No	ClinGen gnomAD
rs1456794840 CA383397409	266	H>R		No	ClinGen TOPMed
CA6390929 rs369391939	266	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6390930 rs200630745	267	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs924212979 CA231668266	268	T>I		No	ClinGen TOPMed gnomAD
rs924212979 CA383397448	268	T>S		No	ClinGen TOPMed gnomAD
rs1317929961 CA383397501	270	S>N		No	ClinGen gnomAD
CA6390932 rs775213734	272	G>D		No	ClinGen ExAC gnomAD
CA6390933 rs760490085	273	S>P		No	ClinGen ExAC gnomAD
CA383397583 rs776414355	275	L>F		No	ClinGen ExAC TOPMed gnomAD
rs761872387 CA6390936	275	L>R		No	ClinGen ExAC gnomAD
rs776414355 CA6390935	275	L>V		No	ClinGen ExAC TOPMed gnomAD
CA383397623 rs1279888924	277	A>V		No	ClinGen TOPMed
rs1441427791 CA383397652	279	C>W		No	ClinGen TOPMed
rs888133222 CA231668330	282	D>H		No	ClinGen Ensembl
CA383397692 rs1448154913	282	D>V		No	ClinGen gnomAD
CA383397742 rs1432489718	287	L>F		No	ClinGen TOPMed
rs1221267174 CA383397751	288	M>I		No	ClinGen TOPMed gnomAD
CA6390958 rs772548377	288	M>V		No	ClinGen ExAC gnomAD
CA6390959 rs762584012	290	E>K		No	ClinGen ExAC gnomAD
rs766028463 CA6390960	291	M>T		No	ClinGen ExAC gnomAD
CA231668523 rs1010456704	296	K>E		No	ClinGen Ensembl
TCGA novel	299	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751242208 CA231668539	299	W>G		No	ClinGen ExAC gnomAD
CA6390961 rs751242208	299	W>R		No	ClinGen ExAC gnomAD
CA6390962 rs759327576	301	V>M		No	ClinGen ExAC gnomAD
CA6390963 rs764298333	304	D>N		No	ClinGen ExAC gnomAD
rs757652694 CA6390965	305	H>Q		No	ClinGen ExAC gnomAD
CA6390964 rs754241888	305	H>R		No	ClinGen ExAC gnomAD
rs779501908 CA6390966	306	Q>H		No	ClinGen ExAC gnomAD
rs750966263 CA6390967	307	L>P		No	ClinGen ExAC gnomAD
CA6390970 rs780169218	311	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6390972 rs768931105	312	K>*		No	ClinGen ExAC gnomAD
CA231668630 rs901206472	314	D>G		No	ClinGen TOPMed
rs968714329 CA231668622	314	D>N		No	ClinGen Ensembl
rs780796616 CA6390973 COSM938528	315	V>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs750913066 CA6390986	317	G>D		No	ClinGen ExAC gnomAD
rs758973639 CA6390987	318	N>I		No	ClinGen ExAC gnomAD
rs148979658 CA383398963	318	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751656032 CA6390989	319	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6390990 rs761717349	320	H>P		No	ClinGen ExAC TOPMed gnomAD
CA383399024 rs1357264065	323	V>I		No	ClinGen gnomAD
rs1244945717 CA383399035	324	V>L		No	ClinGen gnomAD
CA383399049 rs1565417033	325	A>E		No	ClinGen Ensembl
rs202050142 CA6390993	326	C>R		No	ClinGen 1000Genomes ExAC gnomAD
rs777770184 CA6390995	327	A>S		No	ClinGen ExAC gnomAD
rs777770184 CA383399073	327	A>T		No	ClinGen ExAC gnomAD
rs1485580659 CA383399104	329	D>N		No	ClinGen gnomAD
CA6390996 rs749169313	329	D>V		No	ClinGen ExAC gnomAD
rs773949688 CA6390998	333	Y>H		No	ClinGen ExAC gnomAD
CA6390999 rs745411079	334	I>V		No	ClinGen ExAC
rs1407449944 CA383399192	335	I>V		No	ClinGen gnomAD
CA6391001 rs775183538	336	D>G		No	ClinGen ExAC gnomAD
CA383399242 rs1172835339	338	N>D		No	ClinGen TOPMed
rs770845963 CA231674273	338	N>S		No	ClinGen gnomAD
CA6391002 rs760299620	339	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs558400205 CA6391003	339	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6391005 rs374994927	341	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6391006 rs766897597	342	V>I		No	ClinGen ExAC TOPMed gnomAD
rs755055441 CA6391008	343	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6391009 rs138483186	344	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA231674305 rs368527475	347	D>E		No	ClinGen ESP TOPMed
rs1270048974 CA383399410	350	I>N		No	ClinGen TOPMed gnomAD
CA383399411 rs1270048974	350	I>T		No	ClinGen TOPMed gnomAD
rs1460053680 CA383399422	351	R>C		No	ClinGen TOPMed gnomAD
rs541014037 CA6391010	351	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6391011 rs756292548	352	A>G		No	ClinGen ExAC gnomAD
rs1244296500 CA383399430	352	A>T		No	ClinGen TOPMed gnomAD
rs1328124370 CA383399579	356	G>D		No	ClinGen gnomAD
CA6391035 rs758275937	359	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6391036 rs377048387	361	K>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	363	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746527574 CA6391037	363	G>R		No	ClinGen ExAC TOPMed gnomAD
rs746527574 CA6391038	363	G>S		No	ClinGen ExAC TOPMed gnomAD
rs747847102 CA6391040	364	R>C		No	ClinGen ExAC TOPMed gnomAD
CA231675220 rs747847102	364	R>G		No	ClinGen ExAC TOPMed gnomAD
rs771273459 CA6391041	364	R>H		No	ClinGen ExAC TOPMed gnomAD
CA383399682 rs1272943292	365	N>D		No	ClinGen gnomAD
rs1438689299 CA383399686	365	N>T		No	ClinGen gnomAD
rs886071752 CA231675242	366	S>I		No	ClinGen Ensembl
CA231675248 rs1004652710	367	P>L		No	ClinGen Ensembl
CA6391042 rs774646498	367	P>S		No	ClinGen ExAC gnomAD
CA383399734 rs1490095344	368	C>W		No	ClinGen gnomAD
CA6391046 rs760805883	370	V>A		No	ClinGen ExAC gnomAD
rs147278141 CA6391044	370	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs147278141 CA6391045	370	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1016002447 CA383399758	371	Y>H		No	ClinGen TOPMed
CA231675274 rs1016002447	371	Y>N		No	ClinGen TOPMed
CA383399776 rs1420221223	372	V>L		No	ClinGen gnomAD
rs1368898228 CA383399787	373	T>A		No	ClinGen TOPMed
rs764315411 CA6391047	374	F>L		No	ClinGen ExAC gnomAD
rs1363913765 CA383399815	375	N>S		No	ClinGen gnomAD
CA383399820 rs1311479067	376	Q>E		No	ClinGen TOPMed
rs1363786276 CA383399835	378	I>F		No	ClinGen TOPMed gnomAD
rs1565418620 CA383399838	378	I>N		No	ClinGen Ensembl
CA231675281 rs139059765	379	Y>C		No	ClinGen ESP TOPMed gnomAD
rs184261033 CA6391049	381	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA6391051 rs750201962	382	W>C		No	ClinGen ExAC gnomAD
CA6391053 rs141396146	383	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6391052 rs774411113	383	E>DL*		No	ClinGen ExAC gnomAD
rs1360648868 CA383399879	384	V>L		No	ClinGen TOPMed
rs1403752681 CA383399884	385	Q>E		No	ClinGen Ensembl
CA6391057 rs369647396	388	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs751542855 CA6391056	388	R>W		No	ClinGen ExAC gnomAD
rs1433977138 CA383399913	389	M>I		No	ClinGen TOPMed
CA383399912 rs1451299647	389	M>R		No	ClinGen gnomAD
rs1242611245 CA383399908	389	M>V		No	ClinGen gnomAD
CA6391058 rs780738667	390	E>G		No	ClinGen ExAC gnomAD
CA6391059 rs747795873	392	T>I		No	ClinGen ExAC gnomAD
rs1384328212 CA383399931	392	T>S		No	ClinGen gnomAD
CA383399952 rs1603483357	395	V>G		No	ClinGen Ensembl
CA383399949 rs1393236438	395	V>L		No	ClinGen gnomAD
rs779286201 CA383399979	400	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6391061 rs779286201	400	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6391062 rs746247783	402	P>L		No	ClinGen ExAC TOPMed gnomAD
CA383399995 rs746247783	402	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1484467205 CA383400029	407	L>M		No	ClinGen TOPMed
rs761319433 CA6391065	409	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA383400068 rs1288777547	413	V>E		No	ClinGen TOPMed
CA383400066 rs776852577	413	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6391067 rs776852577	413	V>M		No	ClinGen ExAC TOPMed gnomAD
CA383400071 rs1348163139	414	D>H		No	ClinGen gnomAD
TCGA novel	414	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383400089 rs1322486029	415	P>S		No	ClinGen TOPMed
rs375751841 CA6391096	417	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6391097 rs756936443	418	L>F		No	ClinGen ExAC gnomAD
COSM1210962 CA6391098 rs1555082532	422	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs780506009 CA6391100	422	R>H		No	ClinGen ExAC gnomAD
CA383400139 rs1312285723	423	A>G		No	ClinGen gnomAD
CA6391101 rs747402889	425	L>F		No	ClinGen ExAC gnomAD
CA383400168 rs1249546113	428	T>A		No	ClinGen gnomAD
rs150800399 CA6391102	428	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	429	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs886128934 CA6391105	430	Y>C		No	ClinGen TOPMed
rs1484182252 CA383400185	431	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1197575503 CA383400203	433	D>A		No	ClinGen gnomAD
CA6391107 rs200961988	434	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781359817 CA231675720	437	Q>P		No	ClinGen Ensembl
CA383400252 rs1474451759	440	P>L		No	ClinGen TOPMed
CA6391110 rs771198932	441	S>*		No	ClinGen ExAC gnomAD
CA383400255 rs1426176667	441	S>A		No	ClinGen TOPMed
CA6391112 rs759294429	442	S>R		No	ClinGen ExAC gnomAD
CA383400274 rs1169683347	444	Q>R		No	ClinGen gnomAD
CA383400283 rs1274818400	445	D>G		No	ClinGen gnomAD
rs767347515 CA6391114	447	T>I		No	ClinGen ExAC gnomAD
rs767347515 CA6391113	447	T>N		No	ClinGen ExAC gnomAD

No associated diseases with Q969R8

No regional properties for Q969R8

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q969R8

Functions

		Description
EC Number
Subcellular Localization	Lysosome membrane	Localization to lysosomes is amino acid-independent
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.
KICSTOR complex	A protein complex that regulates the TORC1 signaling pathway in response to nutrients. The KICSTOR complex is composed of KPTN, ITFG2, C12orf66 and SZT2.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name	Definition
cellular response to amino acid starvation	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of amino acids.
cellular response to glucose starvation	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose.
germinal center B cell differentiation	The process in which a B cell in the spleen acquires the specialized features of a germinal center B cell. Germinal center B cells are rapidly cycling B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA).
negative regulation of TORC1 signaling	Any process that stops, prevents or reduces the frequency, rate or extent of TORC1 signaling.
regulation of TOR signaling	Any process that modulates the frequency, rate or extent of TOR signaling.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MRSVSYVQRV	ALEFSGSLFP	HAICLGDVDN	DTLNELVVGD	TSGKVSVYKN	DDSRPWLTCS
70	80	90	100	110	120
CQGMLTCVGV	GDVCNKGKNL	LVAVSAEGWF	HLFDLTPAKV	LDASGHHETL	IGEEQRPVFK
130	140	150	160	170	180
QHIPANTKVM	LISDIDGDGC	RELVVGYTDR	VVRAFRWEEL	GEGPEHLTGQ	LVSLKKWMLE
190	200	210	220	230	240
GQVDSLSVTL	GPLGLPELMV	SQPGCAYAIL	LCTWKKDTGS	PPASEGPTDG	SRETPAARDV
250	260	270	280	290	300
VLHQTSGRIH	NKNVSTHLIG	NIKQGHGTES	SGSGLFALCT	LDGTLKLMEE	MEEADKLLWS
310	320	330	340	350	360
VQVDHQLFAL	EKLDVTGNGH	EEVVACAWDG	QTYIIDHNRT	VVRFQVDENI	RAFCAGLYAC
370	380	390	400	410	420
KEGRNSPCLV	YVTFNQKIYV	YWEVQLERME	STNLVKLLET	KPEYHSLLQE	LGVDPDDLPV
430	440
TRALLHQTLY	HPDQPPQCAP	SSLQDPT