AiPD: Autoinhibited Protein Database

Q9H8W4

Gene name	PLEKHF2 (ZFYVE18)
Protein name	Pleckstrin homology domain-containing family F member 2
Names	PH domain-containing family F member 2, Endoplasmic reticulum-associated apoptosis-involved protein containing PH and FYVE domains, EAPF, PH and FYVE domain-containing protein 2, Phafin-2, Phafin2, Zinc finger FYVE domain-containing protein 18
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79666
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

191-249 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

191-249 (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 Q9H8W4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H8W4-F1	Predicted				AlphaFoldDB

132 variants for Q9H8W4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4815002 rs780687383	4	R>C		No	ClinGen ExAC TOPMed gnomAD
rs754315144 CA4815003	4	R>H		No	ClinGen ExAC gnomAD
rs754315144 CA4815004	4	R>L		No	ClinGen ExAC gnomAD
CA371835571 rs1428140306	8	S>G		No	ClinGen TOPMed
rs779540677 CA4815005	10	A>T		No	ClinGen ExAC gnomAD
rs746186310 CA4815006	12	T>S		No	ClinGen ExAC TOPMed gnomAD
rs772610111 CA4815007	14	R>C		No	ClinGen ExAC TOPMed gnomAD
rs780370922 CA4815008	15	I>V		No	ClinGen ExAC gnomAD
COSM606764 rs541625321 CA4815010	16	S>N	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA4815009 rs541625321	16	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1365785635 CA371835629	17	I>V		No	ClinGen gnomAD
CA4815011 rs776563146	21	C>R		No	ClinGen ExAC gnomAD
CA4815012 rs151174692	21	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1311457674 CA371835668	22	F>C		No	ClinGen gnomAD
CA4815013 rs769592013	24	A>S		No	ClinGen ExAC gnomAD
rs773253643 CA4815014	24	A>V		No	ClinGen ExAC gnomAD
CA4815015 rs762688804	27	Q>R		No	ClinGen ExAC gnomAD
CA371835718 rs1424361586	30	T>I		No	ClinGen TOPMed
TCGA novel	34	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478714747 CA371835747	35	V>A		No	ClinGen TOPMed
CA371835760 rs1264130683	37	I>T		No	ClinGen TOPMed
rs1248115163 CA371835783	41	V>L		No	ClinGen gnomAD
CA4815018 rs759200655	46	C>F		No	ClinGen ExAC gnomAD
CA4815019 rs767256425	52	A>T		No	ClinGen ExAC gnomAD
TCGA novel	57	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563884769 CA371835933	61	I>M		No	ClinGen Ensembl
rs967893705 CA182078022	63	V>I		No	ClinGen TOPMed gnomAD
COSM1221125 rs755689743 CA4815021	65	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1402268083 CA371835961	66	N>S		No	ClinGen TOPMed
TCGA novel	68	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371836008 rs1437173199	72	K>N		No	ClinGen gnomAD
TCGA novel	73	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366614567 CA371836054	78	H>R		No	ClinGen gnomAD
CA182078026 rs750958489	81	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4815023 rs750958489	81	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1021626604 CA182078027	85	V>I		No	ClinGen Ensembl
rs758792097 CA4815024	86	T>A		No	ClinGen ExAC gnomAD
CA371836106 rs1271573360	86	T>S		No	ClinGen TOPMed
CA371836111 rs1268189020	87	I>T		No	ClinGen TOPMed gnomAD
CA371836107 rs1216681717	87	I>V		No	ClinGen TOPMed
CA371836129 rs1587311248	90	I>V		No	ClinGen Ensembl
CA182078028 rs1001454783	98	N>S		No	ClinGen Ensembl
rs755249384 CA4815027	99	G>R		No	ClinGen ExAC gnomAD
TCGA novel	100	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4815028 rs781520310	106	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1248868292 CA371836244	106	T>I		No	ClinGen gnomAD
TCGA novel	110	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183240471 CA371836297	114	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748158546 CA4815029	117	T>A		No	ClinGen ExAC gnomAD
COSM1102721 CA4815030 rs374267775	117	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1353846911 CA371836367	124	N>S		No	ClinGen TOPMed
CA4815033 rs770656063	126	I>K		No	ClinGen ExAC
CA371836380 rs1372985805	126	I>V		No	ClinGen gnomAD
rs1168320851 CA371836386	127	N>D		No	ClinGen TOPMed
rs1458349710 CA371836406	129	C>F		No	ClinGen gnomAD
rs1220376556 CA371836414	130	V>A		No	ClinGen TOPMed gnomAD
rs111601825 CA371836428	132	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1198919945 CA371836429	133	L>I		No	ClinGen TOPMed
CA182078029 rs1039604415	136	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4815035 rs370849849	137	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	137	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371836472 COSM1458751 rs1269476112	139	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs767044392 CA4815036	140	T>I		No	ClinGen ExAC TOPMed gnomAD
CA371836490 rs1351779661	142	S>N		No	ClinGen gnomAD
rs775257119 CA4815037	143	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1224450002 CA371836513	145	H>P		No	ClinGen gnomAD
CA371836518 rs1318985062	146	A>T		No	ClinGen TOPMed
TCGA novel	150	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868350428 CA182078030	151	P>L		No	ClinGen Ensembl
CA4815039 rs763688378	153	S>C		No	ClinGen ExAC gnomAD
CA182078032 rs1047193697	156	T>I		No	ClinGen TOPMed
TCGA novel	157	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563884840 CA371836603	159	M>V		No	ClinGen Ensembl
CA4815040 rs375278846	160	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4815041 rs550495503	160	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	161	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1587311334 CA371836637	163	K>N		No	ClinGen Ensembl
CA4815043 rs367913301	165	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA182078035 rs965687902	166	F>C		No	ClinGen Ensembl
rs755423528 CA4815044	168	P>L		No	ClinGen ExAC gnomAD
rs1424310809 CA371836673	169	V>D		No	ClinGen gnomAD
CA182078037 rs919179546	170	N>H		No	ClinGen gnomAD
rs1166905702 CA371836683	171	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA182078038 rs929133641 COSM1158576	172	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
CA4815045 rs781226640	172	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371836718 rs1448947563	176	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA371836720 COSM3432647 rs1308437047	176	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA182078039 rs761181654	177	K>R		No	ClinGen Ensembl
rs749430091 CA4815049	186	C>S		No	ClinGen ExAC gnomAD
CA4815050 rs770848367	188	E>G		No	ClinGen ExAC gnomAD
CA371836819 rs1294119653	190	R>S		No	ClinGen gnomAD
CA182078041 rs1001735199	192	L>H		No	ClinGen TOPMed
CA4815052 rs745640413	192	L>I		No	ClinGen ExAC gnomAD
rs1379582862 CA371836838	194	P>A		No	ClinGen TOPMed
TCGA novel	195	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA182078043 rs145149927	200	P>R		No	ClinGen ESP
rs1484298238 CA371836944	202	R>L		No	ClinGen gnomAD
CA371836940 rs1238118191	202	R>W		No	ClinGen gnomAD
TCGA novel	204	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA182078044 rs1049393666	209	D>H		No	ClinGen TOPMed
CA182078045 rs1014499604	211	L>V		No	ClinGen TOPMed gnomAD
rs1391800837 CA371837102	215	D>G		No	ClinGen gnomAD
CA4815058 rs761451039	215	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1174999553 CA371837108	216	M>T		No	ClinGen gnomAD
CA4815059 rs766973720	216	M>V		No	ClinGen ExAC gnomAD
rs752137532 CA4815060	217	A>V		No	ClinGen ExAC gnomAD
CA4815062 rs767929258	221	P>R		No	ClinGen ExAC gnomAD
CA4815064 rs190135587	222	A>G		No	ClinGen ExAC TOPMed gnomAD
rs752806048 CA4815063	222	A>S		No	ClinGen ExAC gnomAD
CA4815065 rs778037627	223	R>G		No	ClinGen ExAC gnomAD
rs1279660577 CA371837173	226	S>Y		No	ClinGen gnomAD
CA4815068 rs778773087	227	Y>F		No	ClinGen ExAC gnomAD
CA371837184 rs1213685007	228	S>G		No	ClinGen gnomAD
CA4815069 rs138909365	229	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs138909365 CA371837195	229	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1563884919 CA371837208	231	L>F		No	ClinGen Ensembl
rs779909211 CA4815071	231	L>V		No	ClinGen ExAC gnomAD
rs1191758993 CA371837219	233	S>P		No	ClinGen gnomAD
rs112386177 CA182078046	236	N>D		No	ClinGen ExAC gnomAD
rs112386177 CA4815072	236	N>H		No	ClinGen ExAC gnomAD
rs1427154497 CA371837242	236	N>K		No	ClinGen gnomAD
rs1242156761 CA371837247	237	D>E		No	ClinGen TOPMed
CA4815074 rs776474404	237	D>G		No	ClinGen ExAC gnomAD
rs768325893 CA4815073	237	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1415824040 CA371837252	238	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4815075 rs149408548	238	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA371837262 rs1156240994	239	S>F		No	ClinGen gnomAD
CA182078047 rs1033063421 COSM1458752	240	D>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1458223910 CA371837294	244	D>N		No	ClinGen TOPMed gnomAD
rs964090149 CA182078048	245	D>G		No	ClinGen TOPMed
TCGA novel	249	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4815077 rs774932856	250	D>E		No	ClinGen ExAC gnomAD

No associated diseases with Q9H8W4

4 regional properties for Q9H8W4

Type	Name	Position	InterPro Accession
domain	FYVE zinc finger	144 - 213	IPR000306
domain	Pleckstrin homology domain	35 - 133	IPR001849
domain	Zinc finger, FYVE-related	152 - 212	IPR017455
domain	Phafin, PH domain	7 - 129	IPR037871

Functions

		Description
EC Number
Subcellular Localization	Early endosome membrane ; Peripheral membrane protein Endoplasmic reticulum	Colocalizes with EEA1 and RAB5 at endosomal membrane fusion hot spots (PubMed:19995552) May translocate to the endoplasmic reticulum in the early phase of apoptosis (PubMed:18288467)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
early endosome membrane	The lipid bilayer surrounding an early endosome.
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).
transport vesicle	Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell.

2 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.

3 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.
endosome to lysosome transport	The directed movement of substances from endosomes to lysosomes.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q91WB4	Plekhf2	Pleckstrin homology domain-containing family F member 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MVDRLANSEA	NTRRISIVEN	CFGAAGQPLT	IPGRVLIGEG	VLTKLCRKKP	KARQFFLFND
70	80	90	100	110	120
ILVYGNIVIQ	KKKYNKQHII	PLENVTIDSI	KDEGDLRNGW	LIKTPTKSFA	VYAATATEKS
130	140	150	160	170	180
EWMNHINKCV	TDLLSKSGKT	PSNEHAAVWV	PDSEATVCMR	CQKAKFTPVN	RRHHCRKCGF
190	200	210	220	230	240
VVCGPCSEKR	FLLPSQSSKP	VRICDFCYDL	LSAGDMATCQ	PARSDSYSQS	LKSPLNDMSD

DDDDDDSSD