AiPD: Autoinhibited Protein Database

Q8TCG2

Gene name	PI4K2B
Protein name	Phosphatidylinositol 4-kinase type 2-beta
Names	Phosphatidylinositol 4-kinase type II-beta, PI4KII-BETA
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55300
EC number	2.7.1.67: Phosphotransferases with an alcohol group as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-122 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-122 (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

3 structures for Q8TCG2

Entry ID	Method	Resolution	Source
4WTV	X-ray	190 A	PDB
8A5X	X-ray	240 A	PDB
AF-Q8TCG2-F1	Predicted		AlphaFoldDB

354 variants for Q8TCG2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1228300018 CA356541171	2	E>D		No	ClinGen TOPMed gnomAD
CA356541168 rs1350591315	2	E>G		No	ClinGen gnomAD
rs1289632549 CA356541161	2	E>K		No	ClinGen TOPMed gnomAD
CA356541176 rs1266829188	3	D>N		No	ClinGen gnomAD
rs1347578853 CA356541193	4	P>L		No	ClinGen gnomAD
RCV000201382 CA279238 rs863223383	4	P>T		No	ClinGen ClinVar Ensembl dbSNP
CA356541201 rs766320575	5	S>C		No	ClinGen ExAC gnomAD
CA2877595 rs766320575	5	S>Y		No	ClinGen ExAC gnomAD
rs10021593 CA2877596	6	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2877597 rs10021593	6	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2877599 rs752373432	7	P>R		No	ClinGen ExAC TOPMed gnomAD
rs866834643 CA93610855	8	D>G		No	ClinGen gnomAD
CA356541227 rs866834643	8	D>V		No	ClinGen gnomAD
rs1044241408 CA93610869	9	R>L		No	ClinGen TOPMed gnomAD
rs1478974889 CA356541233	9	R>W		No	ClinGen gnomAD
rs1577670003 CA356541245	10	L>S		No	ClinGen Ensembl
CA2877601 rs778150664	12	S>F		No	ClinGen ExAC gnomAD
rs938782464 CA93610882	13	A>E		No	ClinGen TOPMed gnomAD
CA93610880 rs918354507	13	A>T		No	ClinGen gnomAD
rs938782464 CA356541279	13	A>V		No	ClinGen TOPMed gnomAD
CA2877602 rs751882191	14	D>E		No	ClinGen ExAC gnomAD
rs1286991538 CA356541306	16	G>W		No	ClinGen gnomAD
rs757714447 CA93610890	17	S>I		No	ClinGen ExAC TOPMed gnomAD
CA356541318 rs757714447	17	S>N		No	ClinGen ExAC TOPMed gnomAD
CA2877603 rs757714447	17	S>T		No	ClinGen ExAC TOPMed gnomAD
CA356541330 rs1057456837	18	P>L		No	ClinGen TOPMed
CA93610894 rs1057456837	18	P>R		No	ClinGen TOPMed
rs984291369 CA93610904	19	E>D		No	ClinGen TOPMed
CA356541355 rs1234613876	20	E>K		No	ClinGen gnomAD
CA356541380 rs1405928094	21	E>A		No	ClinGen TOPMed gnomAD
rs1256672219 CA356541401	22	E>G		No	ClinGen TOPMed
CA356541392 rs1283108542	22	E>K		No	ClinGen gnomAD
rs576494949 CA93610913	24	G>E		No	ClinGen 1000Genomes TOPMed
CA356541461 rs1484381044	25	E>K		No	ClinGen TOPMed
CA356541490 rs1230844496	26	R>L		No	ClinGen gnomAD
CA356541483 rs1343342206	26	R>W		No	ClinGen TOPMed gnomAD
CA2877606 rs746431870	28	P>L		No	ClinGen ExAC TOPMed gnomAD
CA356541509 rs746431870	28	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA93610922 rs746431870	28	P>R		No	ClinGen ExAC TOPMed gnomAD
rs904782501 CA93610934	30	L>I		No	ClinGen TOPMed
CA356541612 rs1202898521	36	A>T		No	ClinGen TOPMed gnomAD
rs922603173 CA93610950	37	H>L		No	ClinGen gnomAD
CA2877612 rs760393482	38	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs770780820 CA2877613	39	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1476944015 CA356541659	39	R>Q		No	ClinGen gnomAD
rs904616801 CA93610969	40	R>T		No	ClinGen gnomAD
rs776537882 CA2877614	42	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1305572005 CA356541698	43	P>S		No	ClinGen gnomAD
rs1000648965 CA93610976	45	S>G		No	ClinGen TOPMed gnomAD
CA356541729 rs1363203897	46	A>P		No	ClinGen TOPMed gnomAD
rs1193133472 CA356541738	47	V>M		No	ClinGen TOPMed
rs1329704878 CA356541779	49	L>P		No	ClinGen gnomAD
rs1341638148 CA356541809	52	A>P		No	ClinGen gnomAD
CA356541828 rs1266497910	53	A>V		No	ClinGen TOPMed
CA356541832 rs1226499560	54	G>R		No	ClinGen gnomAD
rs1247461807 CA356541854	55	E>D		No	ClinGen TOPMed
rs1267244924 CA356541849	55	E>G		No	ClinGen gnomAD
rs1357199668 CA356541858	56	E>K		No	ClinGen gnomAD
CA356541870 rs1316380257	56	E>V		No	ClinGen TOPMed
rs961053487 CA93610984	57	G>D		No	ClinGen TOPMed gnomAD
CA93610985 rs895041198	59	A>T		No	ClinGen Ensembl
CA93610988 rs972387702	60	G>R		No	ClinGen TOPMed gnomAD
CA356541919 rs972387702	60	G>S		No	ClinGen TOPMed gnomAD
CA93610993 rs1025331501	61	D>E		No	ClinGen gnomAD
rs1560362338 CA356541945	62	E>K		No	ClinGen Ensembl
TCGA novel	62	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356541979 rs1448460809	63	E>A		No	ClinGen TOPMed gnomAD
rs1166354956 CA356542009	65	P>L		No	ClinGen TOPMed gnomAD
rs1166354956 CA356542010	65	P>R		No	ClinGen TOPMed gnomAD
rs1422740369 CA356542028	67	P>Q		No	ClinGen TOPMed
CA356542027 rs1458026792	67	P>S		No	ClinGen gnomAD
CA356542035 rs1478298351	68	P>L		No	ClinGen TOPMed
rs1163172823 CA356542048	70	D>V		No	ClinGen TOPMed gnomAD
CA356542045 rs1196876185	70	D>Y		No	ClinGen TOPMed
rs1344051106 CA356542053	71	V>L		No	ClinGen gnomAD
CA356542065 rs1389133410	73	V>I		No	ClinGen gnomAD
rs762607591 CA2877618	74	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2877621 rs757680746	75	R>L		No	ClinGen ExAC
rs751290066 CA2877620	75	R>W		No	ClinGen ExAC gnomAD
CA2877624 rs756723401	76	S>N		No	ClinGen ExAC
rs750924897 CA2877623	76	S>R		No	ClinGen ExAC gnomAD
CA2877625 rs780137098	77	S>*		No	ClinGen ExAC TOPMed gnomAD
CA2877626 rs780137098	77	S>L		No	ClinGen ExAC TOPMed gnomAD
CA356542110 rs780137098	77	S>W		No	ClinGen ExAC TOPMed gnomAD
CA93611034 rs313549	78	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1332509702 CA356542116	78	S>F		No	ClinGen gnomAD
rs313549 VAR_031974 CA2877628	78	S>P		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs313549 CA356542111	78	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356542112 rs1332509702	78	S>Y		No	ClinGen gnomAD
rs1464314396 CA356542127	79	A>D		No	ClinGen gnomAD
CA356542118 rs748462384	79	A>S		No	ClinGen ExAC gnomAD
CA2877629 rs748462384	79	A>T		No	ClinGen ExAC gnomAD
CA356542130 rs1464314396	79	A>V		No	ClinGen gnomAD
rs1257904101 CA356542134	80	E>*		No	ClinGen gnomAD
CA2877630 rs770690855	80	E>A		No	ClinGen ExAC gnomAD
rs1257904101 CA356542131	80	E>K		No	ClinGen gnomAD
rs770690855 CA356542138	80	E>V		No	ClinGen ExAC gnomAD
rs1186143257 CA356542145	81	L>M		No	ClinGen TOPMed gnomAD
rs1415062206 CA356542150	81	L>P		No	ClinGen TOPMed gnomAD
CA356542147 rs1186143257	81	L>V		No	ClinGen TOPMed gnomAD
rs541279648 CA93611070	82	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356542170 rs984281570	83	R>G		No	ClinGen TOPMed
rs1160612503 CA356542178	83	R>Q		No	ClinGen gnomAD
rs1456037984 CA356542196	85	R>C		No	ClinGen gnomAD
rs1577670456 CA356542215	86	P>L		No	ClinGen Ensembl
rs1304798401 CA356542209	86	P>S		No	ClinGen gnomAD
CA356542225 rs1201066112	87	A>S		No	ClinGen TOPMed
CA356542226 rs1438431308	87	A>V		No	ClinGen TOPMed
rs1372454611 CA356544844	91	T>I		No	ClinGen TOPMed gnomAD
rs1410588917 CA356544850	92	I>V		No	ClinGen gnomAD
CA356544883 rs1349722487	93	G>A		No	ClinGen gnomAD
CA2877644 COSM3775772 rs766803963	95	S>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC
COSM257725 rs1380325430 CA356544986	97	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA356544971 rs755001507	97	M>K		No	ClinGen ExAC TOPMed gnomAD
rs755001507 CA2877646	97	M>T		No	ClinGen ExAC TOPMed gnomAD
rs139854766 CA2877647	98	N>D		No	ClinGen ESP ExAC TOPMed
rs139854766 CA356545007	98	N>H		No	ClinGen ESP ExAC TOPMed
rs200989720 CA2877648	98	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1420487633 CA356545229	105	E>Q		No	ClinGen TOPMed
CA356545277 rs1277828434	106	F>Y		No	ClinGen gnomAD
rs1163151148 CA356545364	108	D>G		No	ClinGen gnomAD
rs1205183766 CA356545329	108	D>N		No	ClinGen gnomAD
CA356545406 rs1193452667	109	I>T		No	ClinGen TOPMed gnomAD
rs1479923912 CA356545395	109	I>V		No	ClinGen gnomAD
rs775274193 CA2877654 CA2877653	110	M>I		No	ClinGen ExAC gnomAD
CA93619278 rs904302518	110	M>L		No	ClinGen TOPMed
rs1427119288 CA356545465	111	L>P		No	ClinGen TOPMed
CA356545523 rs768015752	113	A>E		No	ClinGen ExAC TOPMed gnomAD
rs768015752 CA2877655	113	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1560372072 CA356545585	116	A>T		No	ClinGen Ensembl
CA2877656 rs773940474	117	I>V		No	ClinGen ExAC gnomAD
TCGA novel	118	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2877657 rs761511829	119	V>F		No	ClinGen ExAC TOPMed gnomAD
CA2877658 rs761511829	119	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1463851186 CA356545705	121	I>V		No	ClinGen TOPMed gnomAD
rs142178268 CA2877660	124	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs766826915 CA2877661	126	I>L		No	ClinGen ExAC gnomAD
CA356545798 rs1368033192	126	I>M		No	ClinGen gnomAD
CA356545836 rs1560372107	129	G>D		No	ClinGen Ensembl
CA356545918 rs1301001188	133	S>N		No	ClinGen gnomAD
rs1343776022 CA356545938	134	Y>C		No	ClinGen gnomAD
rs1577685467 CA356545987	136	V>E		No	ClinGen Ensembl
rs1273225794 CA356545985	136	V>M		No	ClinGen gnomAD
CA2877664 rs765193166	138	D>V		No	ClinGen ExAC gnomAD
rs1396337551 CA356546076	139	P>L		No	ClinGen TOPMed gnomAD
rs1396337551 CA356546074	139	P>R		No	ClinGen TOPMed gnomAD
CA356547012 rs1449815548	142	K>E		No	ClinGen gnomAD
rs369537010 CA93620098	143	I>T		No	ClinGen ESP TOPMed gnomAD
CA356547076 rs1292324560	144	I>T		No	ClinGen TOPMed
rs373000940 CA2877687	144	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2877688 rs763006391	146	V>M		No	ClinGen ExAC gnomAD
CA93620109 rs987734742	149	P>T		No	ClinGen TOPMed
CA93620113 rs370555967	150	K>T		No	ClinGen Ensembl
CA2877691 rs751745847	153	E>D		No	ClinGen ExAC TOPMed gnomAD
CA356547324 rs1183141808	154	P>A		No	ClinGen gnomAD
rs779662273 CA2877693	154	P>L		No	ClinGen ExAC
rs1444305938 CA356547433	159	N>S		No	ClinGen gnomAD
CA356547508 rs1236958496	165	Y>C		No	ClinGen gnomAD
CA2877696 rs754808246	166	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1430538686 CA356547526	167	H>R		No	ClinGen TOPMed gnomAD
CA93620136 rs946487002	169	V>F		No	ClinGen gnomAD
rs778993544 CA2877697	169	V>G		No	ClinGen ExAC TOPMed gnomAD
CA356547548 rs946487002	169	V>I		No	ClinGen gnomAD
TCGA novel	169	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2877698 rs748157388	170	C>R		No	ClinGen ExAC gnomAD
rs1195902188 CA356547605	174	C>F		No	ClinGen TOPMed
rs771687570 CA2877699	177	R>*		No	ClinGen ExAC TOPMed gnomAD
CA356547661 rs116364038	179	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356547652 rs1560373452	179	C>R		No	ClinGen Ensembl
rs1374312376 CA356547753	187	L>R		No	ClinGen gnomAD
CA2877702 rs746603449	189	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs939472237 CA93620154 COSM1054640	190	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1278102356 CA356547791	191	G>A		No	ClinGen gnomAD
rs758860209 CA93620165	193	Y>*		No	ClinGen Ensembl
rs1279964622 CA356547809	193	Y>C		No	ClinGen gnomAD
rs759938813 CA2877705	193	Y>H		No	ClinGen ExAC gnomAD
CA356547808 rs1279964622	193	Y>S		No	ClinGen gnomAD
rs770114666 CA2877706	194	L>H		No	ClinGen ExAC gnomAD
CA2877707 rs145564086	195	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1326411872 CA356547850	197	N>K		No	ClinGen TOPMed
CA2877709 rs371233714	200	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs751658131 CA2877710	202	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1451271019 CA356547911	203	I>T		No	ClinGen gnomAD
CA356547907 rs1560373583	203	I>V		No	ClinGen Ensembl
CA2877711 rs761879315	207	T>A		No	ClinGen ExAC gnomAD
rs1168729262 CA356547963	207	T>K		No	ClinGen TOPMed
CA356547989 rs1409482603 COSM1540107	208	K>N	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs143490621 CA2877725	210	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452134657 CA356548344	214	S>N		No	ClinGen gnomAD
rs1190169231 CA356548372	216	T>P		No	ClinGen gnomAD
CA356548377 rs1190169231	216	T>S		No	ClinGen gnomAD
rs372410115 CA2877728 COSM1054642	221	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA356532995 rs1406469366	222	I>T		No	ClinGen gnomAD
rs767555392 CA2877730	224	R>C		No	ClinGen ExAC gnomAD
rs115874249 CA2877731	224	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	225	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs548863079 CA2877732	226	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356533034 rs1577688526	228	R>S		No	ClinGen Ensembl
CA356533063 rs1187355970	232	Y>F		No	ClinGen gnomAD
CA2877734 rs752564543	234	L>F		No	ClinGen ExAC TOPMed gnomAD
CA356533073 rs1283254425	234	L>V		No	ClinGen TOPMed
rs1267306528 CA356533100	238	P>S		No	ClinGen gnomAD
CA356533107 rs1412940527	239	K>E		No	ClinGen TOPMed
rs751507424 CA2877737	241	G>C		No	ClinGen ExAC gnomAD
CA93578336 rs1015880854	242	R>S		No	ClinGen TOPMed gnomAD
CA2877738 rs568370797	244	F>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2877739 rs780606732	245	H>R		No	ClinGen ExAC gnomAD
CA93578362 rs988740404	246	R>G		No	ClinGen gnomAD
rs1427574641 CA356533154	246	R>K		No	ClinGen gnomAD
rs745490190 CA2877740	247	I>V		No	ClinGen ExAC gnomAD
CA2877742 rs755781435	250	P>R		No	ClinGen ExAC gnomAD
rs753549688 CA2877764	254	G>V		No	ClinGen ExAC gnomAD
TCGA novel	258	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	259	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356533581 rs779189256	263	Y>*		No	ClinGen ExAC gnomAD
CA93580331 rs140773975	263	Y>F		No	ClinGen ESP gnomAD
rs1208128425 CA356533601	265	E>V		No	ClinGen TOPMed
CA93580332 rs1049526765	266	A>T		No	ClinGen Ensembl
CA2877767 rs748650081	269	W>R		No	ClinGen ExAC TOPMed gnomAD
rs978612260 CA93580339	270	L>I		No	ClinGen TOPMed gnomAD
CA2877768 rs568117495	272	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2877769 rs777853464	276	D>G		No	ClinGen ExAC gnomAD
rs1577690153 CA356533760	277	P>T		No	ClinGen Ensembl
TCGA novel	278	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747092105 CA2877770	280	E>D		No	ClinGen ExAC gnomAD
rs1227075276 CA356533832	282	I>V		No	ClinGen TOPMed
rs771191262 CA2877771	283	R>G		No	ClinGen ExAC gnomAD
rs145898927 CA2877772	283	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2877774 rs115610773	284	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143048917 RCV000201422 CA210237	287	Q>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA93580432 rs911532872	288	S>L		No	ClinGen TOPMed
CA356533881 rs1577690186	288	S>P		No	ClinGen Ensembl
rs61757712 COSM1729781 CA2877776	292	R>K	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1453799263 CA356533918	293	L>S		No	ClinGen TOPMed
rs1395858755 CA356533929	295	I>V		No	ClinGen gnomAD
CA2877779 rs760167230	297	D>N		No	ClinGen ExAC gnomAD
CA2877780 rs765925650	299	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs150678626 CA2877781	302	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2877782 rs754656794	303	T>I		No	ClinGen ExAC gnomAD
rs1044252874 COSM1429249 CA93581653	305	R>G	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1439664046 CA356534019	306	G>D		No	ClinGen TOPMed gnomAD
CA93581662 rs928502363 COSM3428445	308	D>E	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1300892112 CA356534065	312	V>A		No	ClinGen gnomAD
rs1480373509 CA356534067	313	R>G		No	ClinGen gnomAD
rs764591537 CA356534080	314	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1577691240 CA356534085	315	E>G		No	ClinGen Ensembl
CA2877804 rs752071916	315	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2877805 rs757860778	317	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA356534115 rs1284985795	319	C>Y		No	ClinGen TOPMed
CA2877806 rs781358573	320	E>G		No	ClinGen ExAC TOPMed gnomAD
CA356534135 rs1372309948	322	E>K		No	ClinGen TOPMed
CA2877808 rs756281476	322	E>V		No	ClinGen ExAC gnomAD
rs1297875230 COSM3696609 CA356534159	325	H>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA356534166 rs1402551224	326	K>E		No	ClinGen TOPMed
TCGA novel	327	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs538165565 CA2877872	330	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA356534681 rs1577693890	334	E>D		No	ClinGen Ensembl
CA2877875 rs780225178	334	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	336	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs989078071 CA93584007	340	I>T		No	ClinGen TOPMed
rs749434996 CA93584020	343	I>F		No	ClinGen ExAC TOPMed gnomAD
CA356534807 rs1409922347	343	I>T		No	ClinGen TOPMed gnomAD
CA2877876 rs749434996	343	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs138879345 CA2877878	346	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2877877 rs138879345	346	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437680267 CA356534856	347	L>V		No	ClinGen TOPMed
CA2877879 rs746813076	349	F>C		No	ClinGen ExAC gnomAD
rs1197225643 CA356534879	349	F>V		No	ClinGen TOPMed
CA356534892 rs1345337473	350	P>S		No	ClinGen TOPMed
CA2877880 rs554715631	351	F>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2877882 rs745856219	353	H>P		No	ClinGen ExAC TOPMed gnomAD
rs769145807 CA2877883	354	P>R		No	ClinGen ExAC gnomAD
rs1234402086 CA356534978	358	R>G		No	ClinGen TOPMed
rs775087370 CA2877884	358	R>T		No	ClinGen ExAC gnomAD
rs574721000 CA2877885	359	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	360	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768335792 CA2877906	361	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2877907 rs774122949	366	W>C		No	ClinGen ExAC gnomAD
rs1409928954 CA356536027	367	L>F		No	ClinGen gnomAD
rs369722569 CA2877908	367	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA356536053 rs772528277	369	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs772528277 CA2877909	369	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA356536091 rs1344285535	371	K>N		No	ClinGen TOPMed
CA2877911 rs761033072	372	V>L		No	ClinGen ExAC gnomAD
rs759806533 CA93587400	373	P>A		No	ClinGen TOPMed gnomAD
rs373464866 CA2877913	379	R>K		No	ClinGen ESP ExAC gnomAD
TCGA novel	381	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs537395852 CA2877914	383	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1424684153 CA356536265	385	Y>N		No	ClinGen TOPMed
rs758640377 CA2877917	387	S>A		No	ClinGen ExAC gnomAD
CA356536319 rs1469703471	388	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356536326 rs1213916420	389	M>V		No	ClinGen gnomAD
rs780792498 CA2877918	391	F>Y		No	ClinGen ExAC gnomAD
rs1420003037 CA356536406	394	D>A		No	ClinGen gnomAD
rs750236546 CA2877919	395	L>I		No	ClinGen ExAC gnomAD
rs755925769 CA356536437	396	C>F		No	ClinGen ExAC TOPMed gnomAD
CA2877920 rs755925769	396	C>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	399	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2877921 rs780023892	400	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	401	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749285941 CA2877922	402	L>I		No	ClinGen ExAC gnomAD
rs768247821 CA2877923	404	K>R		No	ClinGen ExAC gnomAD
rs766125111 CA2877938	406	D>E		No	ClinGen ExAC gnomAD
rs755914963 CA2877937	406	D>G		No	ClinGen ExAC gnomAD
CA93587772 rs971917382	411	K>N		No	ClinGen Ensembl
rs1261012532 CA356537506	412	A>V		No	ClinGen gnomAD
TCGA novel	414	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356537582 rs1349526433	416	S>N		No	ClinGen TOPMed gnomAD
rs1478573764 CA356537599	417	Q>*		No	ClinGen TOPMed
CA2877939 rs753789732	417	Q>R		No	ClinGen ExAC
CA2877940 rs374999824	420	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA356537679 rs1340022982	421	M>I		No	ClinGen gnomAD
rs778509196 CA2877941	422	R>G		No	ClinGen ExAC gnomAD
CA356537719 rs1486269884	422	R>M		No	ClinGen gnomAD
rs1187915010 CA356537734	422	R>S		No	ClinGen TOPMed gnomAD
rs1242918335 CA356537775	423	G>D		No	ClinGen gnomAD
CA93594156 rs946033302	425	I>V		No	ClinGen TOPMed gnomAD
CA356539481 rs1357295202	428	L>H		No	ClinGen gnomAD
rs774600733 CA2877955	429	T>A		No	ClinGen ExAC gnomAD
CA2877956 rs761970953	429	T>N		No	ClinGen ExAC gnomAD
rs766150246 CA2877957	430	Q>E		No	ClinGen ExAC gnomAD
CA356539584 rs1305249045	433	R>K		No	ClinGen TOPMed gnomAD
CA356539585 rs1305249045	433	R>T		No	ClinGen TOPMed gnomAD
rs1371292760 CA356539589	434	D>N		No	ClinGen gnomAD
CA2877960 rs200215448	435	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1205891755 CA356540456	443	Q>R		No	ClinGen TOPMed gnomAD
CA2877962 rs757906689	444	I>M		No	ClinGen ExAC gnomAD
rs889617319 CA93594231	444	I>T		No	ClinGen TOPMed gnomAD
rs777191146 CA2877963	445	P>S		No	ClinGen ExAC TOPMed gnomAD
CA356540590 rs1253804601	448	I>V		No	ClinGen TOPMed gnomAD
rs116190725 CA2877964	449	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374694979 CA2877966	451	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs746222667 CA2877967	451	R>H		No	ClinGen ExAC gnomAD
rs374694979 CA356540652	451	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs775953911 CA2877969	455	G>A		No	ClinGen ExAC gnomAD
CA356540752 rs1560383008	455	G>R		No	ClinGen Ensembl
rs1327674265 CA356540806	458	G>C		No	ClinGen gnomAD
CA2877971 rs768738939	459	R>Q		No	ClinGen ExAC gnomAD
rs116488560 CA2877970	459	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356540864 rs1417878396	464	S>G		No	ClinGen TOPMed
rs1170442936 CA356540876	465	N>D		No	ClinGen TOPMed
CA2877974 rs772428665	465	N>S		No	ClinGen ExAC TOPMed gnomAD
CA356540892 rs1295571367	466	S>F		No	ClinGen gnomAD
rs1577703421 CA356540907	468	T>P		No	ClinGen Ensembl
CA356540923 rs1316611977	469	Q>R		No	ClinGen gnomAD
CA93594298 rs946100415	470	T>A		No	ClinGen gnomAD
CA2877975 rs773635308	470	T>N		No	ClinGen ExAC gnomAD
CA2877976 rs759395271	472	N>S		No	ClinGen ExAC gnomAD
CA2877977 rs765176136	473	C>R		No	ClinGen ExAC gnomAD
rs546683378 CA2877978	474	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA93594333 rs977476907	475	K>R		No	ClinGen Ensembl
CA356541019 rs1196769393	478	F>S		No	ClinGen TOPMed
rs1223738167 CA356541047	481	W>*		No	ClinGen TOPMed
TCGA novel	481	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q8TCG2

1 regional properties for Q8TCG2

Type	Name	Position	InterPro Accession
domain	Phosphatidylinositol 3-/4-kinase, catalytic domain	120 - 451	IPR000403

Functions

		Description
EC Number	2.7.1.67	Phosphotransferases with an alcohol group as acceptor
Subcellular Localization	Cytoplasm, cytosol Golgi apparatus membrane ; Peripheral membrane protein Endoplasmic reticulum membrane Cell membrane Early endosome membrane	Mainly cytosolic, association with membranes of the Golgi, endoplasmic and plasma membrane is stimulated by active RAC1 (PubMed:12324459) Association with early endosomes has not been confirmed (PubMed:11923287, PubMed:12324459)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 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.
early endosome membrane	The lipid bilayer surrounding an early endosome.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
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.

2 GO annotations of molecular function

Name	Definition
1-phosphatidylinositol 4-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + ATP = 1-phosphatidyl-1D-myo-inositol 4-phosphate + ADP + 2 H(+).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.

5 GO annotations of biological process

Name	Definition
endosome organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of endosomes.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
phosphatidylinositol biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5ZIK0	PI4K2B	Phosphatidylinositol 4-kinase type 2-beta	Gallus gallus (Chicken)	PR
Q9BTU6	PI4K2A	Phosphatidylinositol 4-kinase type 2-alpha	Homo sapiens (Human)	PR
Q2TBE6	Pi4k2a	Phosphatidylinositol 4-kinase type 2-alpha	Mus musculus (Mouse)	PR
Q8CBQ5	Pi4k2b	Phosphatidylinositol 4-kinase type 2-beta	Mus musculus (Mouse)	PR
Q5XIL2	Pi4k2b	Phosphatidylinositol 4-kinase type 2-beta	Rattus norvegicus (Rat)	PR
Q99M64	Pi4k2a	Phosphatidylinositol 4-kinase type 2-alpha	Rattus norvegicus (Rat)	PR
Q505I0	pi4k2a	Phosphatidylinositol 4-kinase type 2-alpha	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q28G26	pi4k2b	Phosphatidylinositol 4-kinase type 2-beta	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q6PE18	pi4k2a	Phosphatidylinositol 4-kinase type 2-alpha	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MEDPSEPDRL	ASADGGSPEE	EEDGEREPLL	PRIAWAHPRR	GAPGSAVRLL	DAAGEEGEAG
70	80	90	100	110	120
DEELPLPPGD	VGVSRSSSAE	LDRSRPAVSV	TIGTSEMNAF	LDDPEFADIM	LRAEQAIEVG
130	140	150	160	170	180
IFPERISQGS	SGSYFVKDPK	RKIIGVFKPK	SEEPYGQLNP	KWTKYVHKVC	CPCCFGRGCL
190	200	210	220	230	240
IPNQGYLSEA	GAYLVDNKLH	LSIVPKTKVV	WLVSETFNYN	AIDRAKSRGK	KYALEKVPKV
250	260	270	280	290	300
GRKFHRIGLP	PKIGSFQLFV	EGYKEAEYWL	RKFEADPLPE	NIRKQFQSQF	ERLVILDYII
310	320	330	340	350	360
RNTDRGNDNW	LVRYEKQKCE	KEIDHKESKW	IDDEEFLIKI	AAIDNGLAFP	FKHPDEWRAY
370	380	390	400	410	420
PFHWAWLPQA	KVPFSEEIRN	LILPYISDMN	FVQDLCEDLY	ELFKTDKGFD	KATFESQMSV
430	440	450	460	470	480
MRGQILNLTQ	ALRDGKSPFQ	LVQIPCVIVE	RSQGGSQGRI	VHLSNSFTQT	VNCRKPFFSS

W