AiPD: Autoinhibited Protein Database

Q9BTU6

Gene name	PI4K2A
Protein name	Phosphatidylinositol 4-kinase type 2-alpha
Names	Phosphatidylinositol 4-kinase type II-alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55361
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)

1-135 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-135 (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

7 structures for Q9BTU6

Entry ID	Method	Resolution	Chain	Position	Source
4HND	X-ray	320 A	A/B	78-453	PDB
4HNE	X-ray	295 A	A/B	78-453	PDB
4PLA	X-ray	277 A	A	180-468	PDB
4YC4	X-ray	258 A	A	180-468	PDB
5EUT	X-ray	280 A	A	179-468	PDB
5I0N	X-ray	228 A	A	180-468	PDB
AF-Q9BTU6-F1	Predicted				AlphaFoldDB

286 variants for Q9BTU6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5634528 rs201562241	2	D>N		No	ClinGen ExAC TOPMed gnomAD
CA212668290 rs1009601467	4	T>M		No	ClinGen TOPMed gnomAD
CA5634531 rs748809275	8	V>A		No	ClinGen ExAC gnomAD
rs777512612 CA5634530	8	V>M		No	ClinGen ExAC gnomAD
CA377979861 rs146171100	9	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs146171100 CA5634532	9	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA377979859 rs146171100	9	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA212668315 rs547322695	11	E>K		No	ClinGen 1000Genomes TOPMed
CA5634536 rs776853912	12	R>L		No	ClinGen ExAC TOPMed gnomAD
CA377979895 rs776853912	12	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769104431 CA5634535	12	R>W		No	ClinGen ExAC gnomAD
rs912690966 CA212668352	13	A>T		No	ClinGen Ensembl
CA212668360 rs770574861	14	Q>H		No	ClinGen ExAC gnomAD
rs770009660 CA377979933	15	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770009660 CA5634538	15	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1241786497 CA377979931	15	P>S		No	ClinGen TOPMed
CA377979944 rs1231958652	16	P>L		No	ClinGen gnomAD
TCGA novel	16	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164590799 CA377979962	17	D>E		No	ClinGen gnomAD
rs1486397108 CA377979958	17	D>V		No	ClinGen gnomAD
rs766347630 CA5634541	19	T>I		No	ClinGen ExAC gnomAD
rs774390920 CA5634542	20	F>L		No	ClinGen ExAC gnomAD
TCGA novel	21	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212668424 rs1002762089	21	P>R		No	ClinGen TOPMed gnomAD
rs989406282 CA212668420	21	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs759390226 CA5634543	22	S>L		No	ClinGen ExAC gnomAD
CA212668425 rs1033866853	23	G>R		No	ClinGen TOPMed
rs1338586766 CA377980078	24	S>L		No	ClinGen TOPMed
CA377980059 rs1376425111	24	S>P		No	ClinGen gnomAD
CA377980114 rs1316852881	26	A>P		No	ClinGen TOPMed gnomAD
rs1316852881 CA377980117	26	A>S		No	ClinGen TOPMed gnomAD
rs752556384 CA5634545	30	Q>*		No	ClinGen ExAC gnomAD
rs1406898336 CA377980220	30	Q>L		No	ClinGen TOPMed
rs1460532103 CA377980255	32	P>L		No	ClinGen TOPMed
rs1473956030 CA377980252	32	P>S		No	ClinGen TOPMed gnomAD
rs1245094171 CA377980277	33	G>W		No	ClinGen gnomAD
CA377980350 rs763867753	37	R>*		No	ClinGen ExAC TOPMed gnomAD
CA5634547 rs763867753	37	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1589929579 CA377980360	37	R>P		No	ClinGen Ensembl
CA5634548 rs753488117	43	G>A		No	ClinGen ExAC
CA377980462 rs1564771676	43	G>S		No	ClinGen Ensembl
rs1204242501 CA377980525	45	G>A		No	ClinGen Ensembl
rs551282937 CA212668471	46	P>L		No	ClinGen 1000Genomes
CA5634550 rs778254788	49	P>L		No	ClinGen ExAC gnomAD
rs1156488634 CA377980674	52	P>Q		No	ClinGen TOPMed gnomAD
CA212668479 rs912290808	53	G>S		No	ClinGen TOPMed
rs1344427876 CA377980698	53	G>V		No	ClinGen gnomAD
CA377980736 rs1220421463	55	D>Y		No	ClinGen TOPMed
CA377980815 rs1356996505	58	R>G		No	ClinGen TOPMed
CA212668483 rs965168929	59	Q>K		No	ClinGen TOPMed
CA377980944 rs1304824498	62	L>*		No	ClinGen TOPMed
CA377981035 rs1389692578	66	R>Q		No	ClinGen TOPMed
rs1308600104 CA377981031	66	R>W		No	ClinGen Ensembl
CA377981079 rs1298930629	67	G>D		No	ClinGen TOPMed
CA377981097 rs1187378782	68	A>V		No	ClinGen TOPMed gnomAD
rs868850846 CA212668521	69	A>V		No	ClinGen TOPMed gnomAD
rs1464031990 CA377981227	73	Q>R		No	ClinGen TOPMed gnomAD
rs1399696621 CA377981256	74	T>N		No	ClinGen gnomAD
CA377981248 rs1166227950	74	T>S		No	ClinGen TOPMed gnomAD
CA5634552 rs755426457	75	Q>H		No	ClinGen ExAC gnomAD
CA377981306 rs1338968635	76	T>N		No	ClinGen gnomAD
rs1403580947 CA377981376	79	A>T		No	ClinGen gnomAD
CA212668538 rs1053666291	79	A>V		No	ClinGen TOPMed gnomAD
rs1296135389 CA377981417	80	Q>R		No	ClinGen TOPMed gnomAD
rs1328111176 CA377981466	82	Q>R		No	ClinGen gnomAD
rs566351697 CA212668548	83	A>D		No	ClinGen gnomAD
rs1489684686 CA377981514	84	L>P		No	ClinGen TOPMed
rs945341748 CA212668556	84	L>V		No	ClinGen TOPMed gnomAD
CA377981536 rs1293499416	85	A>P		No	ClinGen TOPMed
rs1222899305 CA377981555	85	A>V		No	ClinGen TOPMed
rs781620282 CA5634553	86	A>T		No	ClinGen ExAC gnomAD
CA5634554 rs748544759	86	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	87	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377981602 rs1430781111	87	Q>H		No	ClinGen gnomAD
rs1200232023 CA377981586	87	Q>K		No	ClinGen gnomAD
CA5634556 rs773473144	87	Q>P		No	ClinGen ExAC gnomAD
CA377981611 rs1241149463	88	A>S		No	ClinGen TOPMed
rs1337609268 COSM1220500 CA377981622	88	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA377981646 rs1191732030	90	A>T		No	ClinGen gnomAD
rs866070057 CA212668606	90	A>V		No	ClinGen Ensembl
CA5634558 rs771113036	91	A>T		No	ClinGen ExAC gnomAD
CA377981693 rs1178768456	92	A>T		No	ClinGen gnomAD
rs774285612 CA5634559	92	A>V		No	ClinGen ExAC TOPMed gnomAD
CA377981776 rs1404429830	96	Q>E		No	ClinGen TOPMed
rs1317953243 CA377981827	98	H>P		No	ClinGen gnomAD
CA377981864 rs1465779001	100	E>Q		No	ClinGen gnomAD
rs1289222011 CA377981896	101	R>L		No	ClinGen gnomAD
rs1386914901 CA377981920	103	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1297542611 CA377981950	105	P>A		No	ClinGen TOPMed gnomAD
rs771911428 CA5634561	105	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1297542611 CA377981948	105	P>S		No	ClinGen TOPMed gnomAD
CA212668622 rs938139657	106	E>G		No	ClinGen TOPMed
CA377981960 rs1224839207	107	D>N		No	ClinGen gnomAD
CA5634562 rs775524546	109	E>Q		No	ClinGen ExAC gnomAD
CA377982042 rs1487068333	113	V>A		No	ClinGen gnomAD
rs144135625 CA5634565	113	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377982066 rs1564771770	115	R>L		No	ClinGen Ensembl
rs937058012 CA212668643	120	A>T		No	ClinGen Ensembl
CA5634568 rs749914367	121	I>F		No	ClinGen ExAC gnomAD
CA377982167 rs1427364383	121	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA377982170 rs757886372	122	E>K		No	ClinGen ExAC gnomAD
CA5634569 rs757886372	122	E>Q		No	ClinGen ExAC gnomAD
rs1564771782 CA377982181	122	E>V		No	ClinGen Ensembl
CA212668670 rs1056870998	123	R>G		No	ClinGen Ensembl
CA377982199 rs1160167850	123	R>H		No	ClinGen gnomAD
CA377982222 rs781681853	125	I>L		No	ClinGen ExAC gnomAD
rs781681853 CA5634570	125	I>V		No	ClinGen ExAC gnomAD
rs1589929717 CA377982270	127	P>L		No	ClinGen Ensembl
CA377982285 rs1366105946	128	E>A		No	ClinGen gnomAD
CA377982279 rs1157917592	128	E>Q		No	ClinGen gnomAD
CA377982305 rs1206810551	129	R>C		No	ClinGen TOPMed
CA377982318 rs1300711115	130	I>V		No	ClinGen gnomAD
CA5634573 rs553300307	131	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA212668713 rs1004717292	132	Q>H		No	ClinGen Ensembl
CA5634576 rs771075297	132	Q>L		No	ClinGen ExAC gnomAD
rs771075297 CA5634575	132	Q>R		No	ClinGen ExAC gnomAD
rs775614078 TCGA novel CA5634579	139	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA377982457 rs1222942710	141	K>E		No	ClinGen TOPMed
CA5634582 rs776553956	145	G>E		No	ClinGen ExAC gnomAD
CA377982536 rs1177934872	145	G>R		No	ClinGen TOPMed gnomAD
CA5634610 rs202070275	146	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs758679650 CA5634613	148	I>M		No	ClinGen ExAC gnomAD
CA5634612 rs750674733	148	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	148	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	150	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377983996 rs1236751960	155	N>S		No	ClinGen gnomAD
rs747088277 CA5634615	169	W>G		No	ClinGen ExAC gnomAD
CA377984123 rs769484332	172	K>N		No	ClinGen ExAC gnomAD
CA377984162 rs1296973020	178	C>Y		No	ClinGen TOPMed
rs773047134 CA5634620	181	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1050444872 CA212675423	181	R>H		No	ClinGen TOPMed gnomAD
rs1589933160 CA377984204	184	L>P		No	ClinGen Ensembl
CA377984283 rs1347602584	196	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	197	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212675434 rs151063886	200	D>N		No	ClinGen ESP
CA377984314 rs1218108945	201	Q>*		No	ClinGen gnomAD
CA377984317 rs1284064626	201	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	203	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217730872 CA377984334	204	E>K		No	ClinGen gnomAD
TCGA novel	205	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166317339 CA377984366	208	V>D		No	ClinGen TOPMed
rs375968716 CA5634622	210	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1243509 rs184615614 CA5634623	210	R>H	oesophagus haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA377984378 rs184615614	210	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377985405 rs1470992488	214	V>A		No	ClinGen gnomAD
rs749115616 CA5634639	214	V>L		No	ClinGen ExAC gnomAD
CA377985465 rs1589934618	219	E>D		No	ClinGen Ensembl
CA377985471 rs1378895966	220	T>N		No	ClinGen TOPMed gnomAD
rs1392915398 CA377985526	228	R>*		No	ClinGen gnomAD
CA212679098 rs992755374	231	S>C		No	ClinGen Ensembl
rs771545414 CA5634643	235	R>Q		No	ClinGen ExAC gnomAD
rs1403678380 CA377985571	235	R>W		No	ClinGen gnomAD
CA377985628 rs1306784140	244	V>L		No	ClinGen gnomAD
CA377985648 rs1375912363	247	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA212679133 rs373424407	250	R>C		No	ClinGen ESP TOPMed
TCGA novel	250	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246573626 CA377985671	250	R>L		No	ClinGen gnomAD
CA377985674 rs1317084076	251	I>V		No	ClinGen gnomAD
CA377985769 rs1168726095	262	L>H		No	ClinGen gnomAD
CA377985767 rs1168726095	262	L>R		No	ClinGen gnomAD
CA212679383 rs1034098630	264	V>A		No	ClinGen Ensembl
rs768001477 COSM922057 CA5634665	265	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA377985816 rs1564774889	266	G>V		No	ClinGen Ensembl
rs773896845 CA5634666	270	A>V		No	ClinGen ExAC gnomAD
rs1304335418 CA377985875	271	D>A		No	ClinGen gnomAD
rs1399856625 CA377985880	271	D>E		No	ClinGen gnomAD
CA5634667 rs567693657	272	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140967245 CA5634668 COSM922059	275	R>Q	endometrium Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs200233778 CA212679415	275	R>W		No	ClinGen 1000Genomes
rs367733994 CA5634669	276	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5634670 rs759755540	276	R>H		No	ClinGen ExAC gnomAD
CA5634671 rs146387356	279	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA212679467 rs1024185266	280	E>G		No	ClinGen Ensembl
CA5634672 rs752818418	281	P>T		No	ClinGen ExAC gnomAD
TCGA novel	283	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377985997 rs1200318283	283	P>S		No	ClinGen gnomAD
rs1270656415 CA377986019	285	N>D		No	ClinGen TOPMed
CA212679476 rs201296669	286	T>S		No	ClinGen 1000Genomes
rs118013296 CA5634673	288	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1178530131 CA377986096	292	L>V		No	ClinGen gnomAD
CA5634679 rs758087717	296	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750236260 CA5634678 COSM1350205	296	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA377986154 COSM116639 rs1159017392	297	L>S	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5634681 rs746619512	299	V>A		No	ClinGen ExAC gnomAD
rs771519158 CA212679505	302	Y>C		No	ClinGen Ensembl
rs1187552769 CA377986217	303	I>L		No	ClinGen TOPMed
rs754584429 COSM1350209 CA5634682	305	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA377986246 COSM922061 rs1298748190	305	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA377987326 rs766055659	309	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377987359 rs1309173282	313	N>K		No	ClinGen gnomAD
rs751284001 CA5634699	316	I>M		No	ClinGen ExAC gnomAD
rs1589936912 CA377987384	317	K>T		No	ClinGen Ensembl
rs754692607 CA5634700	318	Y>C		No	ClinGen ExAC gnomAD
CA5634701 rs780927059	320	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1430730035 CA377987416	321	P>L		No	ClinGen gnomAD
CA5634703 rs202072785	322	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5634704 rs779616058	323	D>N		No	ClinGen ExAC gnomAD
CA377987449 rs1218445738	326	S>N		No	ClinGen Ensembl
CA5634706 rs371681790	328	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1262142 rs61760983 CA5634707	328	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs371681790 CA5634705	328	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs138323767 CA5634724	330	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	332	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377987510 rs1167904546	334	V>M		No	ClinGen TOPMed
CA5634725 rs758838155	335	V>M		No	ClinGen ExAC TOPMed gnomAD
rs910887593 CA212685235	337	E>G		No	ClinGen TOPMed gnomAD
rs1464840060 CA377987558	338	P>A		No	ClinGen gnomAD
rs1464840060 CA377987560	338	P>S		No	ClinGen gnomAD
TCGA novel	339	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212685245 rs1024268005	339	V>F		No	ClinGen Ensembl
rs1024268005 CA377987572	339	V>L		No	ClinGen Ensembl
CA377987590 rs1360157149	340	I>T		No	ClinGen gnomAD
rs1181013639 CA377987602	341	K>R		No	ClinGen TOPMed
CA377987616 rs1589937447	342	V>G		No	ClinGen Ensembl
rs780541662 CA5634726	343	A>P		No	ClinGen ExAC gnomAD
TCGA novel	352	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	354	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1378455145 CA377987878	362	Y>H		No	ClinGen gnomAD
rs752036903 CA5634744	365	Y>H		No	ClinGen ExAC gnomAD
rs1487693340 CA377988277	368	W>*		No	ClinGen gnomAD
rs1446786410 CA377988292	370	P>S		No	ClinGen TOPMed
rs1211106178 CA377988299	371	Q>P		No	ClinGen TOPMed
CA5634745 rs755375202	372	A>V		No	ClinGen ExAC TOPMed gnomAD
CA377988310 rs1201396208	373	K>E		No	ClinGen TOPMed
rs1346750694 CA377988315	373	K>N		No	ClinGen TOPMed
TCGA novel	374	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5634750 rs111519719	378	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA377988363 rs1324444104	380	I>T		No	ClinGen TOPMed
CA377988360 rs1226474688	380	I>V		No	ClinGen TOPMed
CA5634751 rs771023100	381	K>N		No	ClinGen ExAC gnomAD
rs1217180501 CA377988395	385	L>F		No	ClinGen TOPMed
CA377988393 rs1217180501	385	L>I		No	ClinGen TOPMed
CA5634752 rs774197942	388	I>V		No	ClinGen ExAC gnomAD
rs759546147 CA5634753	389	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1435673146 CA377988420	389	S>P		No	ClinGen TOPMed
TCGA novel	389	S>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377988438 rs1400471310	392	N>D		No	ClinGen TOPMed gnomAD
rs1412821769 CA377988445	392	N>K		No	ClinGen TOPMed
rs149627559 CA5634755	394	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5634756 rs541984098	395	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377988462 rs541984098	395	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs929287910 CA212686375	402	Y>C		No	ClinGen TOPMed
CA377988538 rs1191057863	405	F>L		No	ClinGen TOPMed
rs1353686849 CA377988602	412	D>E		No	ClinGen gnomAD
CA5634777 rs761522677	413	R>M		No	ClinGen ExAC gnomAD
CA5634778 rs764712366	415	Q>H		No	ClinGen ExAC gnomAD
CA377988623 rs1204285650	416	F>L		No	ClinGen gnomAD
rs772713485 CA5634779	420	I>T		No	ClinGen ExAC TOPMed gnomAD
CA212686808 rs553154389	420	I>V		No	ClinGen Ensembl
CA377988671 rs1236772177	423	M>L		No	ClinGen gnomAD
rs753181578 CA5634782	424	R>Q		No	ClinGen ExAC gnomAD
rs751856414 CA5634780	424	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	425	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs974961654 CA212691046	427	I>M		No	ClinGen TOPMed
rs775930737 CA5634801	430	L>V		No	ClinGen ExAC gnomAD
TCGA novel	435	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs926170004 CA212691059	438	K>Q		No	ClinGen TOPMed
rs754229656 CA5634804	438	K>R		No	ClinGen ExAC TOPMed gnomAD
CA377988825 rs143318523	444	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143318523 CA5634806	444	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5634807 rs760452706	446	M>I		No	ClinGen ExAC TOPMed gnomAD
rs148222937 CA212691087	447	P>L		No	ClinGen ESP TOPMed gnomAD
CA5634808 rs758589565	448	P>R		No	ClinGen ExAC gnomAD
rs1444927586 CA377988859	449	V>A		No	ClinGen TOPMed
rs1286781123 CA377988862	450	I>V		No	ClinGen gnomAD
CA377988874 rs1205523013	452	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5634812 rs200889599	453	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1225341869 CA377988892	454	A>G		No	ClinGen TOPMed
CA5634816 rs748937165	455	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770488656 CA377988895	455	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770488656 CA5634817	455	R>L		No	ClinGen ExAC gnomAD
rs1361819835 CA377988921	459	R>P		No	ClinGen gnomAD
rs1361819835 CA377988920	459	R>Q		No	ClinGen gnomAD
rs773928681 CA5634818 COSM199340	459	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1417334817 CA377988939	462	S>T		No	ClinGen gnomAD
rs758908521 CA5634819	463	E>Q		No	ClinGen ExAC gnomAD
rs1324941833 CA377988955	464	S>F		No	ClinGen TOPMed
CA5634823 rs762314827	467	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	469	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377989006 rs1369284703	471	S>N		No	ClinGen gnomAD
TCGA novel	471	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5634825 rs763253633	472	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1310649524 CA377989010	472	R>W		No	ClinGen gnomAD
TCGA novel	474	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5634826 rs766649886	478	W>C		No	ClinGen ExAC gnomAD
CA377989050 rs1589940245	478	W>R		No	ClinGen Ensembl

No associated diseases with Q9BTU6

1 regional properties for Q9BTU6

Type	Name	Position	InterPro Accession
domain	Phosphatidylinositol 3-/4-kinase, catalytic domain	124 - 453	IPR000403

Functions

		Description
EC Number	2.7.1.67	Phosphotransferases with an alcohol group as acceptor
Subcellular Localization	Golgi apparatus, trans-Golgi network membrane ; Lipid-anchor Membrane raft Cell projection, dendrite Presynaptic cell membrane Synapse, synaptosome Mitochondrion Endosome Cytoplasmic vesicle Membrane ; Lipid-anchor Cell membrane Perikaryon Cell projection, neuron projection	Found in subdomains of the plasma membrane termed non-caveolar membrane rafts Transported from neuronal cell body to neuron projections and neurite tips in a BLOC-1- and AP-3-complexes-dependent manner
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

20 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
early endosome membrane	The lipid bilayer surrounding an early endosome.
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.
growing cell tip	The region at either end of the longest axis of a cylindrical or elongated cell, where polarized growth occurs.
integral component of plasma membrane	The component of the plasma 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.
intrinsic component of membrane	The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
perikaryon	The portion of the cell soma (neuronal cell body) that excludes the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynaptic membrane	A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma 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.

4 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(+).
AP-3 adaptor complex binding	Binding to an AP-3 adaptor complex. The AP-3 adaptor complex is a heterotetrameric AP-type membrane coat adaptor complex that consists of beta3, delta, mu3 and sigma3 subunits and is found associated with endosomal membranes. In at least humans, the AP-3 complex can be heterogeneric due to the existence of multiple subunit isoforms encoded by different genes (beta3A and beta3B, mu3A and mu3B, and sigma3A and sigma3B).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
magnesium ion binding	Binding to a magnesium (Mg) ion.

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
Q8TCG2	PI4K2B	Phosphatidylinositol 4-kinase type 2-beta	Homo sapiens (Human)	PR
Q8CBQ5	Pi4k2b	Phosphatidylinositol 4-kinase type 2-beta	Mus musculus (Mouse)	PR
Q2TBE6	Pi4k2a	Phosphatidylinositol 4-kinase type 2-alpha	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
Q28G26	pi4k2b	Phosphatidylinositol 4-kinase type 2-beta	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q505I0	pi4k2a	Phosphatidylinositol 4-kinase type 2-alpha	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
MDETSPLVSP	ERAQPPDYTF	PSGSGAHFPQ	VPGGAVRVAA	AAGSGPSPPG	SPGHDRERQP
70	80	90	100	110	120
LLDRARGAAA	QGQTQTVAAQ	AQALAAQAAA	AAHAAQAHRE	RNEFPEDPEF	EAVVRQAELA
130	140	150	160	170	180
IERCIFPERI	YQGSSGSYFV	KDPQGRIIAV	FKPKNEEPYG	HLNPKWTKWL	QKLCCPCCFG
190	200	210	220	230	240
RDCLVLNQGY	LSEAGASLVD	QKLELNIVPR	TKVVYLASET	FNYSAIDRVK	SRGKRLALEK
250	260	270	280	290	300
VPKVGQRFNR	IGLPPKVGSF	QLFVEGYKDA	DYWLRRFEAE	PLPENTNRQL	LLQFERLVVL
310	320	330	340	350	360
DYIIRNTDRG	NDNWLIKYDC	PMDSSSSRDT	DWVVVKEPVI	KVAAIDNGLA	FPLKHPDSWR
370	380	390	400	410	420
AYPFYWAWLP	QAKVPFSQEI	KDLILPKISD	PNFVKDLEED	LYELFKKDPG	FDRGQFHKQI
430	440	450	460	470
AVMRGQILNL	TQALKDNKSP	LHLVQMPPVI	VETARSHQRS	SSESYTQSFQ	SRKPFFSWW