AiPD: Autoinhibited Protein Database

P50552

Gene name	VASP
Protein name	Vasodilator-stimulated phosphoprotein
Names	VASP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7408
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

121-192 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

121-192 (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 P50552

Entry ID	Method	Resolution	Chain	Position	Source
1EGX	NMR	-	A	1-115	PDB
1USD	X-ray	170 A	A	336-380	PDB
1USE	X-ray	130 A	A	336-380	PDB
2PAV	X-ray	180 A	V	199-214	PDB
2PBD	X-ray	150 A	V	203-245	PDB
3CHW	X-ray	230 A	V	199-214	PDB
AF-P50552-F1	Predicted				AlphaFoldDB

310 variants for P50552

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA406372476 rs1428669208	2	S>N		No	ClinGen gnomAD
rs1273111097 CA406374551	3	E>D		No	ClinGen TOPMed
rs750566537 CA9516757	3	E>K		No	ClinGen ExAC TOPMed gnomAD
CA406374555 rs1228071836	4	T>A		No	ClinGen TOPMed
rs370727560 CA9516758	4	T>M		No	ClinGen ExAC gnomAD
CA406374580 rs1316688928	6	I>L		No	ClinGen TOPMed
CA406374608 rs1599933242	8	S>P		No	ClinGen Ensembl
rs190763638 COSM3960206 CA9516761	10	R>Q	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs747928083 CA9516760	10	R>W		No	ClinGen ExAC TOPMed gnomAD
CA308975762 rs913667502	12	T>A		No	ClinGen TOPMed
CA406374679 rs1329018310	14	M>I		No	ClinGen TOPMed
TCGA novel	14	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748897906 CA406374686	15	L>F		No	ClinGen ExAC TOPMed gnomAD
CA9516763 rs748897906	15	L>V		No	ClinGen ExAC TOPMed gnomAD
CA406374695 rs1457210051	16	Y>H		No	ClinGen gnomAD
rs770634580 CA406374719	17	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1283881054 CA406374743	19	G>D		No	ClinGen gnomAD
CA406374739 rs745423156	19	G>R		No	ClinGen ExAC
CA9516766 rs745423156	19	G>S		No	ClinGen ExAC
rs749426631 CA308975770	22	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA406374817 rs1235137827	25	P>S		No	ClinGen gnomAD
CA9516767 rs180838564	26	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA406374841 rs1328328459	27	G>D		No	ClinGen gnomAD
CA9516768 rs776120287	28	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1165189872 CA406374892	32	A>T		No	ClinGen TOPMed
CA406374913 rs1599933345	33	F>S		No	ClinGen Ensembl
rs762104608 CA406374930	35	R>C		No	ClinGen ExAC gnomAD
COSM998237 rs571015875 CA9516773	35	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs571015875 CA406374936	35	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762104608 CA9516772	35	R>S		No	ClinGen ExAC gnomAD
CA9516775 rs201590902	36	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1599933370 CA406375004	41	N>T		No	ClinGen Ensembl
CA9516777 rs752567917	43	T>M		No	ClinGen ExAC TOPMed gnomAD
rs777492777 COSM1325191 CA9516779	44	A>T	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA406375039 rs1226249826	45	N>H		No	ClinGen TOPMed
CA308975795 rs1055432392	45	N>S		No	ClinGen TOPMed
CA406375071 rs1416879210	48	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9516781 rs756827489	48	R>H		No	ClinGen ExAC gnomAD
rs1239673086 CA406375076	49	V>I		No	ClinGen TOPMed gnomAD
rs1342804264 CA406375084	50	V>M		No	ClinGen gnomAD
CA406375096 rs1486423020	52	R>Q		No	ClinGen gnomAD
rs747472289 CA9516786	52	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1321271695 CA406375104	53	K>N		No	ClinGen TOPMed
CA406375112 rs1599933463	54	M>I		No	ClinGen Ensembl
CA406375123 rs1250389780	56	P>T		No	ClinGen gnomAD
CA9516789 rs762309179	57	D>N		No	ClinGen ExAC gnomAD
rs765367406 CA9516790	58	Q>P		No	ClinGen ExAC gnomAD
rs765367406 CA308975873	58	Q>R		No	ClinGen ExAC gnomAD
rs763092640 CA9516792	59	Q>E		No	ClinGen ExAC gnomAD
CA406375164 rs1599933691	60	V>G		No	ClinGen Ensembl
rs1261500376 CA406375191	64	C>Y		No	ClinGen gnomAD
rs1366796430 CA406375212	67	V>A		No	ClinGen gnomAD
rs770221309 CA9516828	67	V>I		No	ClinGen ExAC gnomAD
CA9516829 rs778173343	68	R>Q		No	ClinGen ExAC gnomAD
rs868736052 CA308976084	68	R>W		No	ClinGen Ensembl
rs1361019356 CA406375221	69	G>A		No	ClinGen TOPMed
CA406375220 rs1361019356	69	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA308976101 rs1010363297	77	P>R		No	ClinGen TOPMed gnomAD
rs141091843 CA9516830	77	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1246976283 CA406375282	78	N>K		No	ClinGen TOPMed
CA9516831 TCGA novel rs771134442	78	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA406375319 rs1599933769	83	R>C		No	ClinGen Ensembl
rs774612701 CA9516832	83	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9516833 rs759766350	84	D>N		No	ClinGen ExAC gnomAD
rs145061417 CA9516835	85	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761788688 CA9516836	86	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1294632265 CA406375336	86	R>H		No	ClinGen gnomAD
CA406375345 rs1377172860	87	Q>H		No	ClinGen gnomAD
CA9516837 rs765127945	88	V>I		No	ClinGen ExAC TOPMed gnomAD
rs529146911 CA9516841	94	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs754712883 CA9516842	95	S>I		No	ClinGen ExAC gnomAD
CA9516843 rs767090296	98	D>N		No	ClinGen ExAC gnomAD
rs1188684370 CA406375421	98	D>V		No	ClinGen gnomAD
CA9516844 rs752194872	99	A>T		No	ClinGen ExAC gnomAD
rs1471549612 CA406375428	99	A>V		No	ClinGen gnomAD
rs1004099296 CA308976143	101	Q>H		No	ClinGen Ensembl
RCV000970358 CA9516846 VAR_048929 rs10415373	104	A>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148436678 CA406375462	105	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406375461 rs148436678	105	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148436678 CA9516848	105	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1427761075 CA406375470	106	M>T		No	ClinGen Ensembl
rs1310412004 CA406375492	109	A>V		No	ClinGen TOPMed
rs1389989518 CA406375496	110	L>Q		No	ClinGen TOPMed
rs779254044 CA9516849	110	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1411191120 CA406375513	112	A>T		No	ClinGen TOPMed
CA9516851 rs772330164	112	A>V		No	ClinGen ExAC gnomAD
CA406375525 rs1253828693	113	L>S		No	ClinGen TOPMed
rs980023729 CA308978101	116	G>S		No	ClinGen TOPMed gnomAD
CA9516873 rs768555271	117	G>E		No	ClinGen ExAC TOPMed gnomAD
CA406376252 rs1360561901	117	G>R		No	ClinGen TOPMed
CA406376321 rs1413450177	121	P>S		No	ClinGen TOPMed
CA9516874 rs776805584	122	P>R		No	ClinGen ExAC gnomAD
rs1463971881 CA406376336	122	P>S		No	ClinGen gnomAD
TCGA novel	123	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9516875 rs749193768	124	L>I		No	ClinGen ExAC gnomAD
rs771045659 CA9516876	125	P>L		No	ClinGen ExAC gnomAD
CA406376403 rs1296350789	127	W>*		No	ClinGen gnomAD
CA406376392 rs1214258749	127	W>R		No	ClinGen gnomAD
rs774254232 CA9516877	128	S>L		No	ClinGen ExAC TOPMed gnomAD
rs774254232 CA308978112	128	S>W		No	ClinGen ExAC TOPMed gnomAD
CA9516881 rs760378360	130	P>A		No	ClinGen ExAC gnomAD
CA9516882 rs763472179	130	P>L		No	ClinGen ExAC TOPMed gnomAD
CA406376469 rs1259262397	132	G>S		No	ClinGen TOPMed
rs1421006393 CA406376477	133	P>S		No	ClinGen gnomAD
rs765800470 CA9516885	134	S>A		No	ClinGen ExAC gnomAD
CA406376485 rs1163586409	134	S>F		No	ClinGen gnomAD
CA406376486 rs758633713	135	P>A		No	ClinGen ExAC gnomAD
rs139737818 CA9516888	135	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs758633713 CA9516887	135	P>T		No	ClinGen ExAC gnomAD
CA406376504 rs1568389378	137	E>D		No	ClinGen Ensembl
CA9516890 VAR_048930 rs34345197	140	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1257769739 CA406376532	141	Q>R		No	ClinGen TOPMed
rs766953905 CA9516924	145	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs200406972 CA9516927	147	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200406972 CA9516926	147	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752897849 CA406376589	148	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752897849 CA9516928	148	P>R		No	ClinGen ExAC gnomAD
rs1167491492 CA406376596	149	S>L		No	ClinGen TOPMed
CA9516931 rs753998452	152	I>R		No	ClinGen ExAC gnomAD
CA9516933 rs780098099 COSM1232194	154	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs528165680 CA9516934	154	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs528165680 CA308978619	154	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs146539450 CA9516935	155	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA308978620 rs1019786316	155	R>W		No	ClinGen TOPMed gnomAD
rs994114981 CA308978628	156	V>I		No	ClinGen TOPMed
rs780998113 CA9516936	157	S>C		No	ClinGen ExAC gnomAD
rs139701485 CA9516937	158	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406376929 rs1452938948	162	P>Q		No	ClinGen TOPMed
rs780946845 CA9516953	162	P>S		No	ClinGen ExAC gnomAD
CA9516954 rs200213258	163	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1326312735 CA406376939	163	P>S		No	ClinGen TOPMed gnomAD
rs1326312735 CA406376935	163	P>T		No	ClinGen TOPMed gnomAD
rs1380153654 CA406376955	164	A>V		No	ClinGen gnomAD
rs755763067 CA9516955	165	P>S		No	ClinGen ExAC TOPMed gnomAD
rs748902801 CA9516957	166	P>L		No	ClinGen ExAC gnomAD
rs1228917011 CA406376968	166	P>T		No	ClinGen gnomAD
rs746325938 CA9516960	167	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746325938 CA9516961	167	A>T		No	ClinGen ExAC TOPMed gnomAD
rs775965713 CA9516962	169	G>S		No	ClinGen ExAC gnomAD
rs761188544 CA9516963	169	G>V		No	ClinGen ExAC gnomAD
CA406377028 rs1261221277	172	P>S		No	ClinGen TOPMed gnomAD
CA406377026 rs1261221277	172	P>T		No	ClinGen TOPMed gnomAD
rs552257314 CA9516964	173	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406377042 rs1195876582	173	P>Q		No	ClinGen gnomAD
rs1255559280 CA406377048	174	P>A		No	ClinGen gnomAD
rs1474823922 CA406377058	175	G>R		No	ClinGen gnomAD
CA9516965 rs776846873	176	P>T		No	ClinGen ExAC TOPMed gnomAD
rs765314359 CA9516967	179	P>L		No	ClinGen ExAC gnomAD
rs1266320480 CA406377136	182	P>A		No	ClinGen TOPMed
CA308978801 rs1043166274	183	P>L		No	ClinGen gnomAD
CA9516971 rs534753410	184	P>A		No	ClinGen 1000Genomes ExAC TOPMed
rs554683036 CA9516972	184	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA308978808 rs554683036	184	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554683036 CA308978805	184	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534753410 CA406377158	184	P>S		No	ClinGen 1000Genomes ExAC TOPMed
rs1354345481 CA406377164	185	P>T		No	ClinGen gnomAD
CA406377177 rs1285501931	186	P>S		No	ClinGen gnomAD
rs1404512934 CA406377200	188	L>W		No	ClinGen TOPMed
CA406377216 rs1041315864	189	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1041315864 CA308978814	189	P>R		No	ClinGen TOPMed gnomAD
rs755843185 CA9516974	190	P>S		No	ClinGen ExAC gnomAD
rs568311975 CA406377237	191	S>*		No	ClinGen 1000Genomes TOPMed gnomAD
CA308978821 rs568311975 COSM3389142	191	S>L	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA406377240 rs1351649838	192	G>R		No	ClinGen TOPMed gnomAD
CA406377249 rs1427583216	192	G>V		No	ClinGen TOPMed
CA406377256 rs1485350175	193	V>A		No	ClinGen TOPMed gnomAD
rs1255492059 CA406377251	193	V>I		No	ClinGen gnomAD
CA406377286 rs1188747393	196	A>T		No	ClinGen TOPMed gnomAD
rs753487280 CA9516976	197	A>S		No	ClinGen ExAC gnomAD
CA308978832 rs994355063	197	A>V		No	ClinGen TOPMed gnomAD
CA9516978 rs778461757	198	H>Q		No	ClinGen ExAC gnomAD
CA9516979 rs745409668	199	G>R		No	ClinGen ExAC TOPMed gnomAD
rs772701895 CA9516980	199	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1171428056 CA406377318	200	A>T		No	ClinGen gnomAD
rs1434725736 CA406377327	201	G>E		No	ClinGen gnomAD
CA406377326 rs1374488493	201	G>R		No	ClinGen gnomAD
rs899734935 CA308978844	202	G>E		No	ClinGen TOPMed gnomAD
CA406377330 rs1568390068	202	G>R		No	ClinGen Ensembl
rs780763776 CA9516981	204	P>S		No	ClinGen ExAC TOPMed gnomAD
CA308978869 rs747523598	205	P>L		No	ClinGen ExAC gnomAD
CA9516982 rs747523598	205	P>R		No	ClinGen ExAC gnomAD
TCGA novel	208	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1378205368 CA406377364	208	P>S		No	ClinGen TOPMed gnomAD
CA406377369 rs1242574547	209	P>A		No	ClinGen TOPMed gnomAD
CA406377371 rs1278377474	209	P>H		No	ClinGen gnomAD
rs1242574547 CA406377368	209	P>S		No	ClinGen TOPMed gnomAD
CA9516983 rs577432613	210	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs776884448 CA9516984	211	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1195226681 CA406377384	212	A>T		No	ClinGen gnomAD
rs1250956064 CA406377406	215	G>C		No	ClinGen gnomAD
rs1024134901 CA308978875	216	P>L		No	ClinGen Ensembl
rs186268136 CA9516987	217	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9516986 rs186268136	217	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406377427 rs1363951117	219	G>R		No	ClinGen TOPMed gnomAD
rs1363951117 CA406377426	219	G>W		No	ClinGen TOPMed gnomAD
CA406377434 rs1394061923	220	G>E		No	ClinGen TOPMed gnomAD
CA9516988 rs763082077	222	G>R		No	ClinGen ExAC gnomAD
CA406377481 rs1298168963	227	A>S		No	ClinGen gnomAD
rs1167798549 CA406377484	227	A>V		No	ClinGen TOPMed
rs760633493 CA9516991	228	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs868845162 CA308978893	231	A>D		No	ClinGen TOPMed
rs868845162 CA308978890	231	A>V		No	ClinGen TOPMed
CA406377522 rs1301725890	232	G>R		No	ClinGen gnomAD
CA9517012 rs761572288	242	E>A		No	ClinGen ExAC gnomAD
CA9517013 rs765093845	243	E>D		No	ClinGen ExAC gnomAD
rs750056026 CA406377649	246	G>A		No	ClinGen ExAC gnomAD
rs750056026 CA406377648	246	G>E		No	ClinGen ExAC gnomAD
rs1479082472 CA406377646	246	G>R		No	ClinGen gnomAD
rs750056026 CA9517015	246	G>V		No	ClinGen ExAC gnomAD
CA406377653 rs1167379020	247	G>E		No	ClinGen gnomAD
CA406377650 rs1406261327	247	G>R		No	ClinGen gnomAD
TCGA novel	248	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1305052722 CA406377657	248	P>A		No	ClinGen TOPMed gnomAD
rs751152379 CA9517018	250	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1201793186 CA406377672	250	A>V		No	ClinGen TOPMed
CA9517020 rs781603382	251	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9517019 rs201980485	251	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA9517021 rs748699162	252	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	255	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406377713 rs1217486098	257	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA308979043 rs1050925154	257	R>P		No	ClinGen TOPMed gnomAD
CA406377714 rs1050925154	257	R>Q		No	ClinGen TOPMed gnomAD
rs756371889 CA406377722	258	S>R		No	ClinGen ExAC gnomAD
CA406377736 rs1394930282	261	G>W		No	ClinGen TOPMed gnomAD
rs778145736 CA9517023	262	G>R		No	ClinGen ExAC gnomAD
rs771193827 CA9517025	264	M>T		No	ClinGen ExAC gnomAD
rs749466756 CA9517024	264	M>V		No	ClinGen ExAC gnomAD
rs1599940237 CA406377782	267	M>I		No	ClinGen Ensembl
CA406377785 rs1186621124	268	N>H		No	ClinGen TOPMed gnomAD
COSM1318280 CA9517028 rs768626257	269	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA406377801 rs1285597977	270	M>T		No	ClinGen TOPMed
CA9517029 rs776375532	273	R>W		No	ClinGen ExAC gnomAD
CA406377854 rs1568390674	277	A>T		No	ClinGen Ensembl
TCGA novel	277	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9517054 rs563126812	278	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9517055 rs770859843	279	Q>R		No	ClinGen ExAC gnomAD
rs773805179 CA9517056	280	V>A		No	ClinGen ExAC gnomAD
rs759268813 CA9517057	284	T>I		No	ClinGen ExAC gnomAD
CA406377955 rs1599941335	284	T>P		No	ClinGen Ensembl
rs369989989 CA9517058	286	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA406378053 rs1158202706	289	S>A		No	ClinGen TOPMed
CA406378065 rs1212296297	290	A>T		No	ClinGen gnomAD
CA9517059 rs374323389	290	A>V		No	ClinGen ESP ExAC gnomAD
rs761142228 CA9517060	291	N>D		No	ClinGen ExAC gnomAD
rs761142228 CA406378081	291	N>H		No	ClinGen ExAC gnomAD
CA308979316 rs900666086	291	N>S		No	ClinGen TOPMed gnomAD
CA406378201 rs1172813093	292	Q>E		No	ClinGen gnomAD
CA308979378 rs945458782	295	P>A		No	ClinGen Ensembl
rs754277878 CA9517081	296	E>K		No	ClinGen ExAC gnomAD
CA9517083 rs765496953	298	R>K		No	ClinGen ExAC
rs1599941576 CA406378326	298	R>S		No	ClinGen Ensembl
rs1599941585 CA406378352	299	V>A		No	ClinGen Ensembl
CA406378346 rs1163642573	299	V>F		No	ClinGen gnomAD
CA9517084 rs750839777	300	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1297032048 CA406378400	302	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9517086 rs368220122	303	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9517123 rs769199242	306	V>A		No	ClinGen ExAC TOPMed gnomAD
rs371283026 CA9517125	307	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1380490253 CA406378647	307	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs922197974 CA308979515	308	R>I		No	ClinGen TOPMed gnomAD
CA9517127 rs774908669	309	P>R		No	ClinGen ExAC TOPMed gnomAD
CA406378682 rs573511309	309	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA9517126 rs573511309	309	P>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	310	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406378698 rs1405000583	310	W>R		No	ClinGen gnomAD
rs759805062 CA9517128	312	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA406378796 rs1226411959	313	N>K		No	ClinGen TOPMed
CA9517129 rs767920651	315	T>A		No	ClinGen ExAC gnomAD
CA406378881 rs1299282573	317	L>W		No	ClinGen gnomAD
rs764087249 CA9517132	318	P>L		No	ClinGen ExAC TOPMed gnomAD
CA406378889 rs1485042521	318	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1054876903 CA308979672	322	S>L		No	ClinGen TOPMed gnomAD
rs376225995 CA9517148	325	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs760840221 CA9517149	328	T>A		No	ClinGen ExAC TOPMed gnomAD
CA9517152 rs374049612	330	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9517154 rs751510202	335	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9517155 rs754699666	336	P>H		No	ClinGen ExAC gnomAD
rs1389988720 CA406379738	337	S>G		No	ClinGen TOPMed
CA308979700 rs967004287	337	S>N		No	ClinGen Ensembl
rs369765423 CA9517157	338	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs777310575 CA9517159	342	S>L		No	ClinGen ExAC gnomAD
rs755767967 CA9517158	342	S>P		No	ClinGen ExAC gnomAD
rs1321922317 CA406379784	343	D>E		No	ClinGen gnomAD
rs1157151568 CA406379795	345	Q>R		No	ClinGen TOPMed
rs953396627 CA308979711	347	V>L		No	ClinGen TOPMed gnomAD
CA406379806 rs953396627	347	V>M		No	ClinGen TOPMed gnomAD
CA9517201 rs201593364	350	E>D		No	ClinGen ExAC TOPMed gnomAD
CA406379913 rs1324351554	350	E>G		No	ClinGen TOPMed
CA406379907 rs1297091674	350	E>K		No	ClinGen gnomAD
rs377525757 CA9517204	362	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA406380071 rs1361900613	364	E>D		No	ClinGen gnomAD
TCGA novel	364	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145748539 CA9517205	364	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs145748539 CA406380063	364	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9517206 rs748344463	366	I>T		No	ClinGen ExAC gnomAD
rs148966728 CA9517207	368	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1406640602 CA406380116	368	E>K		No	ClinGen TOPMed
CA406380217 rs144238584	371	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9517229 rs144238584	371	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1393267132 CA406380243	372	Q>H		No	ClinGen TOPMed
rs1177582608 CA406380250	373	E>*		No	ClinGen gnomAD
CA406380288 rs1330861672	375	R>K		No	ClinGen TOPMed gnomAD
rs202205375 CA9517234	377	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9517233 rs202205375	377	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9517232 rs202205375	377	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM316446 CA406380319 rs1449793712	377	R>W	lung endometrium Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs199933144 CA308980808	378	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776564384 CA9517235	378	G>S		No	ClinGen ExAC
rs199933144 CA9517236	378	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369087695 CA9517237	380	P>L		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with P50552

2 regional properties for P50552

Type	Name	Position	InterPro Accession
domain	WH1/EVH1 domain	1 - 113	IPR000697
domain	VASP tetramerisation	342 - 376	IPR014885

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Cell junction, focal adhesion Cell junction, tight junction Cell projection, lamellipodium membrane Cell projection, filopodium membrane	Targeted to stress fibers and focal adhesions through interaction with a number of proteins including MRL family members Localizes to the plasma membrane in protruding lamellipodia and filopodial tips Stimulation by thrombin or PMA, also translocates VASP to focal adhesions Localized along the sides of actin filaments throughout the peripheral cytoplasm under basal conditions In pre-apoptotic cells, colocalizes with MEFV in large specks (pyroptosomes)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
bicellular tight junction	An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
filopodium membrane	The portion of the plasma membrane surrounding a filopodium.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lamellipodium membrane	The portion of the plasma membrane surrounding a lamellipodium.
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
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
profilin binding	Binding to profilin, an actin-binding protein that forms a complex with G-actin and prevents it from polymerizing to form F-actin.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.

6 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
actin polymerization or depolymerization	Assembly or disassembly of actin filaments by the addition or removal of actin monomers from a filament.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
neural tube closure	The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline.
positive regulation of actin filament polymerization	Any process that activates or increases the frequency, rate or extent of actin polymerization.
protein homotetramerization	The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7Z698	SPRED2	Sprouty-related, EVH1 domain-containing protein 2	Homo sapiens (Human)	PR

10	20	30	40	50	60
MSETVICSSR	ATVMLYDDGN	KRWLPAGTGP	QAFSRVQIYH	NPTANSFRVV	GRKMQPDQQV
70	80	90	100	110	120
VINCAIVRGV	KYNQATPNFH	QWRDARQVWG	LNFGSKEDAA	QFAAGMASAL	EALEGGGPPP
130	140	150	160	170	180
PPALPTWSVP	NGPSPEEVEQ	QKRQQPGPSE	HIERRVSNAG	GPPAPPAGGP	PPPPGPPPPP
190	200	210	220	230	240
GPPPPPGLPP	SGVPAAAHGA	GGGPPPAPPL	PAAQGPGGGG	AGAPGLAAAI	AGAKLRKVSK
250	260	270	280	290	300
QEEASGGPTA	PKAESGRSGG	GGLMEEMNAM	LARRRKATQV	GEKTPKDESA	NQEEPEARVP
310	320	330	340	350	360
AQSESVRRPW	EKNSTTLPRM	KSSSSVTTSE	TQPCTPSSSD	YSDLQRVKQE	LLEEVKKELQ
370
KVKEEIIEAF	VQELRKRGSP