AiPD: Autoinhibited Protein Database

Q8TBX8

Gene name	PIP4K2C
Protein name	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma
Names	Phosphatidylinositol 5-phosphate 4-kinase type II gamma, PI(5)P 4-kinase type II gamma, PIP4KII-gamma
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79837
EC number	2.7.1.149: 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)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (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

5 structures for Q8TBX8

Entry ID	Method	Resolution	Chain	Position	Source
2GK9	X-ray	280 A	A/B/C/D	32-421	PDB
7QIE	X-ray	239 A	A/B/C/D	32-421	PDB
7QPN	X-ray	195 A	A/B	32-421	PDB
8BQ4	X-ray	242 A	A/B	32-421	PDB
AF-Q8TBX8-F1	Predicted				AlphaFoldDB

297 variants for Q8TBX8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs527836487 CA6653350	2	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1565710093 CA385518996	3	S>F		No	ClinGen Ensembl
rs1326640775 CA385519005	4	S>A		No	ClinGen TOPMed gnomAD
rs1352950461 CA385519008	4	S>F		No	ClinGen gnomAD
CA385519001 rs1326640775	4	S>T		No	ClinGen TOPMed gnomAD
CA6653354 rs750756056	5	S>A		No	ClinGen ExAC TOPMed gnomAD
rs199510992 CA6653357	7	P>A		No	ClinGen ExAC TOPMed gnomAD
CA385519043 rs199510992	7	P>S		No	ClinGen ExAC TOPMed gnomAD
CA385519042 rs199510992	7	P>T		No	ClinGen ExAC TOPMed gnomAD
CA385519060 rs1293156029	8	P>L		No	ClinGen gnomAD
rs755691121 CA6653359	15	T>K		No	ClinGen ExAC
rs1291846217 CA385519142	16	A>G		No	ClinGen TOPMed
CA6653361 rs748955590	18	P>S		No	ClinGen ExAC gnomAD
TCGA novel	19	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778604165 CA6653363	20	P>S		No	ClinGen ExAC gnomAD
CA385519196 rs1186631565	21	G>C		No	ClinGen gnomAD
rs745629212 CA6653364	21	G>V		No	ClinGen ExAC gnomAD
CA385519219 rs1594933622	23	G>S		No	ClinGen Ensembl
rs201317274 CA237796479	25	A>S		No	ClinGen 1000Genomes gnomAD
CA385519245 rs201317274	25	A>T		No	ClinGen 1000Genomes gnomAD
rs1594933648 CA385519293	28	T>N		No	ClinGen Ensembl
CA385519299 rs1418600633	29	K>Q		No	ClinGen gnomAD
CA6653366 rs775634498	29	K>R		No	ClinGen ExAC gnomAD
rs760677015 CA6653367	31	K>Q		No	ClinGen ExAC gnomAD
rs776782285 CA6653369	35	Q>*		No	ClinGen ExAC gnomAD
CA6653370 rs142590508	38	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1281958866 CA385519487	41	F>L		No	ClinGen gnomAD
CA6653373 rs750585885	42	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA237796496 rs867791123	42	R>W		No	ClinGen Ensembl
CA6653374 rs763418651	43	A>E		No	ClinGen ExAC gnomAD
CA385519508 rs763418651	43	A>V		No	ClinGen ExAC gnomAD
CA385519521 rs1261881261	44	A>V		No	ClinGen gnomAD
CA385519540 rs1241453435	46	P>A		No	ClinGen gnomAD
CA385519546 rs1264898057	46	P>R		No	ClinGen TOPMed
CA6653376 rs752122625	48	V>L		No	ClinGen ExAC TOPMed gnomAD
CA385519581 rs1397080762	49	G>V		No	ClinGen TOPMed gnomAD
CA6653378 rs767174080	50	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1565710354 CA385519656	55	V>I		No	ClinGen Ensembl
rs780022995 CA6653404	59	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1486534556 CA385520249	60	N>K		No	ClinGen TOPMed
rs1217125557 CA385520272	62	L>H		No	ClinGen TOPMed
rs781315550 CA6653407	63	S>G		No	ClinGen ExAC TOPMed gnomAD
CA385520332 rs1467915612	66	P>L		No	ClinGen gnomAD
rs1284520142 CA385520326	66	P>S		No	ClinGen TOPMed
rs377694265 CA6653408	67	P>S		No	ClinGen ExAC gnomAD
rs769976546 CA6653409	68	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769976546 CA385520358	68	P>R		No	ClinGen ExAC TOPMed gnomAD
rs749532941 CA6653411	69	V>L		No	ClinGen ExAC gnomAD
CA385520365 rs749532941	69	V>M		No	ClinGen ExAC gnomAD
CA237797959 rs745633571	70	M>I		No	ClinGen Ensembl
rs771101836 CA6653412	75	D>G		No	ClinGen ExAC gnomAD
CA385520539 rs1387909479	78	A>S		No	ClinGen gnomAD
CA6653413 rs774720885	79	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759944544 CA6653414	80	S>C		No	ClinGen ExAC TOPMed gnomAD
rs557920023 CA6653415	81	K>E		No	ClinGen 1000Genomes ExAC gnomAD
VAR_032049 rs17550713 CA237799821	84	V>A		No	ClinGen UniProt Ensembl dbSNP
rs370958816 CA385521303	86	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6653417 rs370958816	86	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288070189 CA385521305	86	N>S		No	ClinGen gnomAD
rs764807332 CA6653418	88	L>F		No	ClinGen ExAC gnomAD
rs1291419136 CA385521345	89	F>L		No	ClinGen gnomAD
rs749859510 CA6653419	89	F>V		No	ClinGen ExAC gnomAD
CA385521362 rs1041443278	91	R>G		No	ClinGen TOPMed gnomAD
rs201090279 CA6653441	93	N>D		No	ClinGen ExAC TOPMed gnomAD
CA385521484 rs1274248864	94	L>V		No	ClinGen gnomAD
TCGA novel	96	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867799728 CA237800176	97	H>N		No	ClinGen Ensembl
rs924580875 CA237800179	99	K>R		No	ClinGen TOPMed
rs140834378 CA385521582	100	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs940956726 CA237800183	101	K>N		No	ClinGen Ensembl
rs1311021119 CA385521606	102	E>G		No	ClinGen TOPMed
CA6653444 rs759209351	102	E>K		No	ClinGen ExAC gnomAD
CA237800191 rs934700028	103	Y>C		No	ClinGen TOPMed
CA6653446 rs752399308	104	C>S		No	ClinGen ExAC gnomAD
rs756099687 CA6653447	105	P>S		No	ClinGen ExAC gnomAD
CA6653449 rs753779629	106	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA237800208 rs199848541	106	Q>H		No	ClinGen Ensembl
CA237800211 rs895889027	110	N>D		No	ClinGen TOPMed
CA385521722 rs1454814261	110	N>K		No	ClinGen TOPMed
CA6653450 rs757397412	112	R>C		No	ClinGen ExAC TOPMed gnomAD
CA385521754 rs1166464162	113	D>G		No	ClinGen gnomAD
CA385521764 rs1459350575	114	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1565712307 CA385521766	114	R>Q		No	ClinGen Ensembl
rs1436144875 CA385521790	116	G>S		No	ClinGen gnomAD
rs868240199 CA237800220	119	D>E		No	ClinGen TOPMed
CA6653452 rs746093393	120	Q>R		No	ClinGen ExAC gnomAD
CA6653474 rs532896811	124	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1565712708 CA385521951	127	T>A		No	ClinGen Ensembl
CA6653476 rs781565216	128	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6653477 rs748672366	128	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1262405098 CA385521975	129	N>T		No	ClinGen TOPMed
CA6653481 rs745419979	130	P>R		No	ClinGen ExAC TOPMed gnomAD
rs774025021 CA6653480	130	P>T		No	ClinGen ExAC
rs1453146281 CA385522004	131	P>H		No	ClinGen TOPMed
rs1453146281 CA385522006	131	P>R		No	ClinGen TOPMed
rs1219794276 CA385522014	132	S>C		No	ClinGen TOPMed gnomAD
rs773282154 CA6653482	132	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1219794276 CA385522010	132	S>R		No	ClinGen TOPMed gnomAD
CA6653483 rs368468880	133	E>K		No	ClinGen ESP ExAC gnomAD
rs760364085 CA6653484	135	E>K		No	ClinGen ExAC gnomAD
CA6653485 rs763800206	137	S>T		No	ClinGen ExAC gnomAD
rs1341602689 CA385522065	139	G>C		No	ClinGen TOPMed
CA385522069 rs1165643972	139	G>D		No	ClinGen gnomAD
CA6653486 rs376271494	140	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs761761394 CA6653487	141	F>I		No	ClinGen ExAC TOPMed gnomAD
rs761761394 CA6653488	141	F>V		No	ClinGen ExAC TOPMed gnomAD
CA385522100 rs1322607788	142	L>F		No	ClinGen gnomAD
rs1443131208 CA385522110	143	I>V		No	ClinGen TOPMed gnomAD
CA6653490 rs758470788	144	S>A		No	ClinGen ExAC TOPMed gnomAD
CA237800509 rs867549222	144	S>F		No	ClinGen TOPMed gnomAD
CA237800513 rs914373784	145	Y>N		No	ClinGen Ensembl
CA6653492 rs751741003	146	D>N		No	ClinGen ExAC gnomAD
CA6653494 rs144510690	147	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385522179 rs1337543230	147	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6653493 rs144510690	147	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	149	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6653497 rs778464274	151	I>V		No	ClinGen ExAC gnomAD
CA6653498 rs200334597	154	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA237800530 rs147858324	155	S>C		No	ClinGen ESP TOPMed
CA6653499 rs771541611	156	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1188666393 CA385522323	158	D>E		No	ClinGen gnomAD
CA237800533 rs970049492	158	D>G		No	ClinGen TOPMed gnomAD
CA6653500 rs775009549	159	I>T		No	ClinGen ExAC gnomAD
CA385522325 rs1391456812	159	I>V		No	ClinGen gnomAD
rs746670589 CA6653501	160	A>G		No	ClinGen ExAC gnomAD
CA6653502 rs768305189	161	D>G		No	ClinGen ExAC gnomAD
CA385522372 rs1428427311	162	M>T		No	ClinGen TOPMed gnomAD
rs776243272 CA6653503	162	M>V		No	ClinGen ExAC gnomAD
rs772453070 CA6653504	166	L>V		No	ClinGen ExAC gnomAD
rs765008879 CA6653505	168	N>S		No	ClinGen ExAC TOPMed gnomAD
rs765008879 CA237800535	168	N>T		No	ClinGen ExAC TOPMed gnomAD
CA385522461 rs1168505511	169	Y>N		No	ClinGen gnomAD
CA385523624 rs1247118977	173	I>T		No	ClinGen gnomAD
CA385523618 rs1206612534	173	I>V		No	ClinGen gnomAD
CA385523675 rs1194573061	177	H>Y		No	ClinGen gnomAD
rs760924346 CA385523721	180	T>K		No	ClinGen ExAC TOPMed gnomAD
rs760924346 CA6653531	180	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764560640 CA6653532	181	L>P		No	ClinGen ExAC gnomAD
CA385523756 rs1388395892	183	P>L		No	ClinGen TOPMed
rs200493008 CA6653533	184	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs757538279 CA6653534	184	Q>P		No	ClinGen ExAC gnomAD
rs779514146 CA6653535	188	M>L		No	ClinGen ExAC gnomAD
CA6653537 rs141529759	190	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6653538 rs780622025	190	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs553929796 CA237801550	191	V>I		No	ClinGen 1000Genomes
CA385523866 rs1328965201	192	S>I		No	ClinGen gnomAD
rs1231929483 CA385523892	194	D>G		No	ClinGen gnomAD
rs1279580659 CA385523918	196	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA385523944 rs1352765099	197	D>E		No	ClinGen TOPMed gnomAD
rs749158138 CA6653542	200	M>K		No	ClinGen ExAC TOPMed gnomAD
rs769398553 CA6653541	200	M>L		No	ClinGen ExAC gnomAD
CA385523983 rs749158138	200	M>T		No	ClinGen ExAC TOPMed gnomAD
CA6653540 rs769398553	200	M>V		No	ClinGen ExAC gnomAD
rs770601407 CA6653543	201	L>F		No	ClinGen ExAC gnomAD
CA385524020 rs1288081716	203	M>T		No	ClinGen TOPMed
rs774417613 CA6653544	204	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6653545 rs140234878	204	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA237801595 rs140234878	204	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6653546 rs140234878	204	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385524039 rs1198271236	205	N>D		No	ClinGen gnomAD
rs760998448 CA6653548	206	M>R		No	ClinGen ExAC gnomAD
CA6653547 rs775647061	206	M>V		No	ClinGen ExAC gnomAD
rs143320503 CA6653550	210	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs762301182 CA6653551	210	R>H		No	ClinGen ExAC TOPMed gnomAD
CA237801610 rs928009150	213	V>G		No	ClinGen TOPMed gnomAD
rs765506922 CA6653552	214	H>L		No	ClinGen ExAC gnomAD
rs750952473 CA6653553	216	K>E		No	ClinGen ExAC gnomAD
rs1351867852 CA385524176	217	Y>C		No	ClinGen gnomAD
CA237801634 rs1004323473	217	Y>H		No	ClinGen Ensembl
rs866198814 CA237801731	222	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA385524277 rs1486287562	223	L>Q		No	ClinGen gnomAD
CA385524292 rs1184180356	226	R>W		No	ClinGen TOPMed gnomAD
rs776965379 CA6653567	228	A>T		No	ClinGen ExAC gnomAD
CA6653570 rs773406842	230	D>E		No	ClinGen ExAC gnomAD
rs765637994 CA6653569	230	D>N		No	ClinGen ExAC gnomAD
rs1483512961 CA385525380	235	K>E		No	ClinGen TOPMed
rs1434466333 CA385525414	236	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs17852569 CA237802158 VAR_032050	241	K>R		No	ClinGen UniProt Ensembl dbSNP
CA385525554 rs1320197066	242	D>G		No	ClinGen gnomAD
CA385525582 rs1212917184	243	M>T		No	ClinGen TOPMed
rs367712382 CA237802160	243	M>V		No	ClinGen ESP gnomAD
rs1368530131 CA385525683	247	N>S		No	ClinGen gnomAD
rs938222121 CA237802164	248	K>R		No	ClinGen gnomAD
CA385525779 rs1347001735	251	K>E		No	ClinGen TOPMed
TCGA novel	253	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312130758 CA385525840	255	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA385525864 rs1229622369	256	E>D		No	ClinGen gnomAD
CA6653596 rs370140414	257	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA237802172 rs1041484645	260	K>*		No	ClinGen TOPMed
rs1220851885 CA385525958	262	F>L		No	ClinGen gnomAD
rs1409990614 CA385526012	265	K>E		No	ClinGen TOPMed
rs1369580614 CA385526061	268	R>*		No	ClinGen TOPMed
CA237802186 rs760050696	268	R>K		No	ClinGen Ensembl
rs1246959192 CA385526083	269	D>G		No	ClinGen gnomAD
rs374390645 CA6653600	271	E>K		No	ClinGen ESP ExAC gnomAD
rs762627273 CA6653616	272	F>C		No	ClinGen ExAC gnomAD
CA6653618 rs750149441	274	V>M		No	ClinGen ExAC gnomAD
rs1422820006 CA385526247	275	Q>*		No	ClinGen TOPMed
CA6653620 rs781033897	277	K>R		No	ClinGen ExAC gnomAD
TCGA novel	282	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199936944 CA237802382	284	L>M		No	ClinGen 1000Genomes TOPMed
CA237802400 rs111803898	285	L>P		No	ClinGen Ensembl
rs749520253 CA385526358	286	G>R		No	ClinGen ExAC gnomAD
rs749520253 CA6653624	286	G>S		No	ClinGen ExAC gnomAD
CA385526365 rs1226942214	287	I>F		No	ClinGen gnomAD
rs1427808499 CA385526374	288	H>R		No	ClinGen TOPMed
CA6653626 rs779274649	289	D>G		No	ClinGen ExAC gnomAD
rs1424993633 CA385526387	290	I>N		No	ClinGen TOPMed gnomAD
rs374935805 CA6653627	290	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs772477787 CA385526398	292	R>G		No	ClinGen ExAC TOPMed gnomAD
rs368437479 CA6653630	292	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs368437479 CA6653629	292	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6653628 rs772477787	292	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	297	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239112682 CA385526438	298	E>G		No	ClinGen gnomAD
CA385526434 rs1410068328	298	E>K		No	ClinGen gnomAD
rs2277319 VAR_032051 CA6653633	300	A>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2277319 CA6653634	300	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145883345 CA6653640 CA385526460	302	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145883345 CA6653641	302	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs757308259 CA6653645	303	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs371873927 CA6653643	303	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1372675099 CA385526478	305	D>G		No	ClinGen TOPMed
rs534917147 CA6653647	305	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs780396470 CA6653649	306	E>D		No	ClinGen ExAC TOPMed gnomAD
rs758699156 CA6653648	306	E>G		No	ClinGen ExAC gnomAD
CA237802459 rs963925923	307	S>P		No	ClinGen TOPMed
rs1365485627 CA385526497	308	E>G		No	ClinGen gnomAD
CA385526502 rs1178225544	309	V>L		No	ClinGen TOPMed
CA6653650 rs747500684	310	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6653652 rs553273592	311	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748846138 CA6653653	313	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1479406719 CA385526546	315	L>R		No	ClinGen TOPMed
CA6653655 rs773934289	316	T>I		No	ClinGen ExAC gnomAD
CA6653656 rs759170288	318	P>H		No	ClinGen ExAC TOPMed gnomAD
rs767221980 CA6653657	319	P>S		No	ClinGen ExAC gnomAD
rs1212777648 CA385526568	320	A>T		No	ClinGen TOPMed
TCGA novel	323	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs963258737 CA237802486	324	S>F		No	ClinGen Ensembl
CA385526592 rs1222109008	324	S>P		No	ClinGen TOPMed
rs753747468 CA6653661	325	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA385526600 rs753747468	325	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA385526603 rs1173188710	326	G>S		No	ClinGen gnomAD
CA6653662 rs757383047	327	T>I		No	ClinGen ExAC
CA385526611 rs1594943633	327	T>P		No	ClinGen Ensembl
rs188086981 CA237802512	329	P>S		No	ClinGen 1000Genomes gnomAD
rs765300316 CA6653663	331	G>D		No	ClinGen ExAC gnomAD
CA6653665 rs758602690	333	G>E		No	ClinGen ExAC gnomAD
rs973052423 CA237802513	333	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6653666 rs780304129	334	G>S		No	ClinGen ExAC gnomAD
rs1405307272 CA385526657	335	Y>S		No	ClinGen TOPMed
rs1222831965 CA385526663	336	I>F		No	ClinGen gnomAD
rs1276050714 CA385526697	339	H>L		No	ClinGen TOPMed gnomAD
rs1276050714 CA385526695	339	H>R		No	ClinGen TOPMed gnomAD
CA6653670 rs748653777	340	R>Q		No	ClinGen ExAC gnomAD
CA6653669 rs139070091	340	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA385526713 rs1412239566	341	P>S		No	ClinGen TOPMed
CA237802566 rs796819555	342	L>P		No	ClinGen Ensembl
rs1268672796 CA385526735	343	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6653671 rs770579643	344	P>A		No	ClinGen ExAC gnomAD
rs1594943760 CA385526766	346	E>G		No	ClinGen Ensembl
rs992961900 CA237802577	347	F>C		No	ClinGen TOPMed
CA385526776 rs1594943765	347	F>V		No	ClinGen Ensembl
rs754478884 CA237802581	351	I>F		No	ClinGen ExAC TOPMed gnomAD
rs745541092 CA6653673	351	I>T		No	ClinGen ExAC TOPMed gnomAD
rs754478884 CA6653672	351	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6653675 rs200656592	354	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200656592 CA6653674	354	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6653676 rs760506508	355	A>T		No	ClinGen ExAC gnomAD
CA385526925 rs1413307668	356	I>L		No	ClinGen gnomAD
CA6653678 rs138963792	357	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6653677 rs543501661	357	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA385526972 rs1386925722	358	S>N		No	ClinGen gnomAD
rs865803962 CA237802716	363	P>F		No	ClinGen Ensembl
CA6653692 rs267603614	364	Q>*		No	ClinGen ExAC gnomAD
CA6653694 rs768441532	364	Q>H		No	ClinGen ExAC gnomAD
CA385527145 rs267603614	364	Q>K		No	ClinGen ExAC gnomAD
rs746604542 CA6653693	364	Q>R		No	ClinGen ExAC gnomAD
CA237802730 rs780395866	368	Y>C		No	ClinGen Ensembl
CA6653696 rs761757572	368	Y>N		No	ClinGen ExAC gnomAD
rs763157734 CA6653699	376	L>V		No	ClinGen ExAC gnomAD
rs1403690887 CA385527475	378	Q>R		No	ClinGen gnomAD
CA6653701 rs751845732	381	A>T		No	ClinGen ExAC gnomAD
rs1430275318 CA385527692	393	K>Q		No	ClinGen gnomAD
rs1443571472 CA385527702	393	K>R		No	ClinGen TOPMed gnomAD
rs772278412 CA6653743	396	A>S		No	ClinGen ExAC gnomAD
CA6653745 rs760738196	405	P>L		No	ClinGen ExAC gnomAD
CA6653747 rs368257351	406	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471910201 CA385528032	409	A>G		No	ClinGen gnomAD
rs1189743899 CA385528058	411	R>*		No	ClinGen Ensembl
TCGA novel	411	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6653750 rs750923324	411	R>L		No	ClinGen ExAC gnomAD
rs967533775 CA385528082	412	F>L		No	ClinGen TOPMed
rs1202786661 CA385528110	414	D>E		No	ClinGen TOPMed
CA6653751 rs754540202	417	T>A		No	ClinGen ExAC gnomAD
rs903037340 CA237802905	420	F>L		No	ClinGen TOPMed gnomAD
rs776324358 CA237802910	421	A>S		No	ClinGen Ensembl

No associated diseases with Q8TBX8

1 regional properties for Q8TBX8

Type	Name	Position	InterPro Accession
domain	Phosphatidylinositol-4-phosphate 5-kinase, core	43 - 421	IPR002498

Functions

		Description
EC Number	2.7.1.149	Phosphotransferases with an alcohol group as acceptor
Subcellular Localization	Endoplasmic reticulum Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
autophagosome	A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
intracellular organelle	Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

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

7 GO annotations of biological process

Name	Definition
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.
negative regulation of 1-phosphatidylinositol-4-phosphate 5-kinase activity	Any process that decreases the frequency, rate or extent of the catalysis of the reaction: ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.
negative regulation of insulin receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of insulin receptor signaling.
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.
positive regulation of autophagosome assembly	Any process that activates or increases the frequency, rate or extent of autophagic vacuole assembly.
regulation of autophagy	Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q17QS4	PIP5KL1	Phosphatidylinositol 4-phosphate 5-kinase-like protein 1	Bos taurus (Bovine)	PR
Q0P5F7	PIP4K2C	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Bos taurus (Bovine)	PR
P78356	PIP4K2B	Phosphatidylinositol 5-phosphate 4-kinase type-2 beta	Homo sapiens (Human)	PR
Q5T9C9	PIP5KL1	Phosphatidylinositol 4-phosphate 5-kinase-like protein 1	Homo sapiens (Human)	PR
Q99755	PIP5K1A	Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha	Homo sapiens (Human)	PR
Q6U7H8	Pip5kl1	Phosphatidylinositol 4-phosphate 5-kinase-like protein 1	Mus musculus (Mouse)	PR
Q80XI4	Pip4k2b	Phosphatidylinositol 5-phosphate 4-kinase type-2 beta	Mus musculus (Mouse)	PR
Q91XU3	Pip4k2c	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Mus musculus (Mouse)	PR
O88370	Pip4k2c	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Rattus norvegicus (Rat)	PR
O48709	PIP5K3	Phosphatidylinositol 4-phosphate 5-kinase 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q56YP2	PIP5K1	Phosphatidylinositol 4-phosphate 5-kinase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SFB8	PIP5K6	Phosphatidylinositol 4-phosphate 5-kinase 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8L796	PIP5K2	Phosphatidylinositol 4-phosphate 5-kinase 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6GL14	pip4k2c	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q6IQE1	pip4k2c	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MASSSVPPAT	VSAATAGPGP	GFGFASKTKK	KHFVQQKVKV	FRAADPLVGV	FLWGVAHSIN
70	80	90	100	110	120
ELSQVPPPVM	LLPDDFKASS	KIKVNNHLFH	RENLPSHFKF	KEYCPQVFRN	LRDRFGIDDQ
130	140	150	160	170	180
DYLVSLTRNP	PSESEGSDGR	FLISYDRTLV	IKEVSSEDIA	DMHSNLSNYH	QYIVKCHGNT
190	200	210	220	230	240
LLPQFLGMYR	VSVDNEDSYM	LVMRNMFSHR	LPVHRKYDLK	GSLVSREASD	KEKVKELPTL
250	260	270	280	290	300
KDMDFLNKNQ	KVYIGEEEKK	IFLEKLKRDV	EFLVQLKIMD	YSLLLGIHDI	IRGSEPEEEA
310	320	330	340	350	360
PVREDESEVD	GDCSLTGPPA	LVGSYGTSPE	GIGGYIHSHR	PLGPGEFESF	IDVYAIRSAE
370	380	390	400	410	420
GAPQKEVYFM	GLIDILTQYD	AKKKAAHAAK	TVKHGAGAEI	STVHPEQYAK	RFLDFITNIF

A