AiPD: Autoinhibited Protein Database

Q9P2A4

Gene name	ABI3 (NESH)
Protein name	ABI gene family member 3
Names	New molecule including SH3, Nesh
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51225
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

136-323 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

136-323 (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 Q9P2A4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9P2A4-F1	Predicted				AlphaFoldDB

366 variants for Q9P2A4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs202087269 RCV001090103	97	V>E	Early-onset dementia of unclear type [ClinVar]	Yes	ClinVar dbSNP
rs556355860 CA291429302	2	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
rs1598235757 CA400137771	4	L>V		No	ClinGen Ensembl
CA291429308 rs143414853	5	Q>*		No	ClinGen ESP gnomAD
rs1420521454 CA400137788	6	Q>H		No	ClinGen gnomAD
CA8637235 rs758421191	7	L>P		No	ClinGen ExAC TOPMed gnomAD
CA400137796 rs1343769718	8	Q>*		No	ClinGen TOPMed gnomAD
CA400137802 rs1598235790	9	E>K		No	ClinGen Ensembl
CA400137812 rs1598235800	10	F>V		No	ClinGen Ensembl
CA291429319 rs549417316	14	T>A		No	ClinGen TOPMed gnomAD
rs370923583 CA400137850	16	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs747109470 CA8637237	16	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8637236 rs370923583	16	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs755071175 CA8637238	17	E>D		No	ClinGen ExAC TOPMed gnomAD
CA291429335 rs1040672383	23	H>Y		No	ClinGen TOPMed
CA291429339 rs902124492	24	S>C		No	ClinGen gnomAD
CA400137899 rs902124492	24	S>R		No	ClinGen gnomAD
rs1285866992 CA400137901	24	S>T		No	ClinGen gnomAD
rs1214736725 CA400137906	25	A>T		No	ClinGen gnomAD
rs201115503 CA8637240	26	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA400137918 rs1191889112	27	L>P		No	ClinGen gnomAD
CA291429350 rs760969996	28	R>Q		No	ClinGen TOPMed gnomAD
CA400137922 rs1394533857	28	R>W		No	ClinGen gnomAD
TCGA novel	29	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400137931 rs1405996342	30	A>T		No	ClinGen TOPMed gnomAD
COSM3958507 CA400137936 rs1400500144	30	A>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs567658506 CA400137960	33	C>W		No	ClinGen ExAC TOPMed gnomAD
rs146754613 CA8637243	34	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	39	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400138659 rs1437505383	42	D>E		No	ClinGen gnomAD
rs2233369 VAR_022030 CA8637258	44	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200790496 CA8637257	44	R>W		No	ClinGen ExAC TOPMed gnomAD
rs143540619 CA8637260	46	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs939765605 CA291438589	49	E>K		No	ClinGen TOPMed gnomAD
rs143614623 CA8637262	51	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3421669 CA8637263 rs200111501	52	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1313131663 CA400138742	55	T>I		No	ClinGen gnomAD
CA400138737 rs1598241101	55	T>P		No	ClinGen Ensembl
rs776016535 CA8637265	57	A>V		No	ClinGen ExAC gnomAD
CA8637266 rs761489039	59	A>S		No	ClinGen ExAC gnomAD
rs563435696 CA291438637	61	V>M		No	ClinGen gnomAD
rs762820357 CA8637269	64	Q>*		No	ClinGen ExAC gnomAD
CA400138836 rs1598241152	65	V>G		No	ClinGen Ensembl
rs1282745948 CA400138846	66	G>C		No	ClinGen gnomAD
CA8637271 rs751478175	66	G>D	Variant assessed as Somatic; 4.881e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8637272 rs759416740	68	L>M		No	ClinGen ExAC gnomAD
CA400138868 rs1430849564	69	A>T		No	ClinGen gnomAD
CA8637277 rs371444697	70	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs764275935 CA8637276	70	G>R		No	ClinGen ExAC gnomAD
rs757577935 CA8637278	71	H>Y		No	ClinGen ExAC gnomAD
CA8637279 rs553060450	74	R>C	Variant assessed as Somatic; 4.892e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8637281 rs758831966	74	R>H		No	ClinGen ExAC gnomAD
CA8637282 rs758831966	74	R>L		No	ClinGen ExAC gnomAD
rs553060450 CA8637280	74	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8637284 rs201757928	75	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8637283 rs545252944	75	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400138981 rs1437690121	79	Q>*		No	ClinGen TOPMed
CA291438678 rs1055813742	79	Q>H		No	ClinGen TOPMed gnomAD
rs1316149275	81	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA400139004 rs772968279	81	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8637285 rs772968279	81	A>T		No	ClinGen ExAC TOPMed gnomAD
rs374915787 CA8637287	82	A>T		No	ClinGen ESP TOPMed gnomAD
rs1346049558 CA400139022	82	A>V		No	ClinGen gnomAD
CA291438698 rs780019843	83	L>P		No	ClinGen Ensembl
rs774034002 CA8637291	84	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8637290 rs770714352	84	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1277814670 CA400139041	85	Q>*		No	ClinGen TOPMed
rs199999962 CA8637292	86	V>G		No	ClinGen ExAC gnomAD
CA8637295 rs775453112	88	A>D		No	ClinGen ExAC gnomAD
CA8637294 rs775453112	88	A>G		No	ClinGen ExAC gnomAD
rs369657954 CA8637296	89	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs369657954 CA400139084	89	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs754010262 CA8637297	89	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1598241315 CA400139092	90	V>G		No	ClinGen Ensembl
CA8637298 rs757483449	91	S>R		No	ClinGen ExAC gnomAD
CA8637299 rs749500177	92	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1172801027 CA400139109	93	L>P		No	ClinGen TOPMed
rs1598241334 CA400139120	95	Q>P		No	ClinGen Ensembl
rs1251359622 CA400139143	96	M>I		No	ClinGen gnomAD
rs202087269 CA8637327	97	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1456294036 CA400139147	97	V>M		No	ClinGen TOPMed
CA400139153 rs1249717750	98	N>Y		No	ClinGen TOPMed gnomAD
rs756838495 CA8637329	99	M>I		No	ClinGen ExAC gnomAD
CA8637328 rs377358127	99	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8637330 rs778395724	100	H>R		No	ClinGen ExAC gnomAD
CA8637333 rs771711245	106	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1710444 CA400139211 rs1423154843	106	R>Q	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs746880911 CA8637334	107	R>M		No	ClinGen ExAC TOPMed gnomAD
CA400139219 rs1182971415	107	R>S		No	ClinGen gnomAD
TCGA novel	110	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761778675 COSM1610428 CA8637337	110	G>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8637339 rs187673177	114	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	114	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751980006 CA8637342	115	V>A		No	ClinGen ExAC gnomAD
CA8637341 rs201557264	115	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	116	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8637343 rs142527437	116	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137924898 CA8637346	117	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137924898 CA8637345	117	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8637344 rs768112823	117	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778504447 CA8637348	119	P>A		No	ClinGen ExAC gnomAD
CA291439386 rs956906194	119	P>R		No	ClinGen TOPMed
COSM3691663 CA8637349 rs778504447	119	P>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA400139291 rs1212824481	120	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs992844688 CA291439403	120	P>S		No	ClinGen TOPMed gnomAD
rs779746761 CA8637351	121	G>R		No	ClinGen ExAC gnomAD
rs745481319	121	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA291439409 rs779746761	121	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746792731 CA291439417	123	K>*		No	ClinGen ExAC TOPMed gnomAD
rs746792731 CA8637352	123	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8637353 rs139297199	124	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA400139313 rs1598242518	124	V>G		No	ClinGen Ensembl
rs139297199 CA8637354	124	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs769714351 CA8637356	126	A>S	Variant assessed as Somatic; 9.259e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769714351 CA8637357	126	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763022415 CA8637358	127	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1358979152 CA400139327	127	P>Q		No	ClinGen gnomAD
rs771276789 CA8637359	128	E>Q		No	ClinGen ExAC gnomAD
CA291439468 rs911896159	131	P>S		No	ClinGen TOPMed gnomAD
rs774775538 CA8637361	132	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	132	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551943333 CA291439483	132	P>R		No	ClinGen Ensembl
rs774775538 CA8637360	132	P>T		No	ClinGen ExAC TOPMed gnomAD
rs904475202 CA291439486	133	L>F		No	ClinGen Ensembl
CA8637362 rs768022718	134	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	135	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8637363 rs775807811	137	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1311407630 CA400139389	138	R>G		No	ClinGen TOPMed gnomAD
CA8637364 rs761254944	143	F>L		No	ClinGen ExAC gnomAD
rs749944165 CA8637366	145	C>R		No	ClinGen ExAC gnomAD
TCGA novel	145	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400139802 rs1455611899	145	C>Y		No	ClinGen gnomAD
CA8637367 rs757960023	147	D>H		No	ClinGen ExAC gnomAD
rs751254771 CA8637369	149	I>T		No	ClinGen ExAC TOPMed gnomAD
rs754730132 CA8637370	151	H>R		No	ClinGen ExAC gnomAD
TCGA novel	152	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8637372 rs747978813	152	G>V		No	ClinGen ExAC gnomAD
CA8637374 rs370412209	153	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs370412209 CA8637373	153	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA400139929 rs1227137651	154	K>R		No	ClinGen TOPMed
CA400139988 rs1400561784	156	L>V		No	ClinGen TOPMed
rs1227493609 CA400140000	157	S>N		No	ClinGen gnomAD
rs779144501 CA8637395	157	S>R		No	ClinGen ExAC gnomAD
rs1227493609 CA400140004	157	S>T		No	ClinGen gnomAD
CA291440469 rs1049912551	158	T>A		No	ClinGen Ensembl
CA400140014 rs1408970127	158	T>R		No	ClinGen TOPMed
CA400140034 rs1336844490	160	L>M		No	ClinGen TOPMed gnomAD
rs1438646967 CA400140058	162	R>K		No	ClinGen gnomAD
CA291440477 rs1000830663	163	T>I		No	ClinGen TOPMed
rs1249823595 CA400140100	165	T>I		No	ClinGen gnomAD
CA400140091 rs1598244139	165	T>P		No	ClinGen Ensembl
rs775632247 CA8637398	166	L>R		No	ClinGen ExAC gnomAD
rs747375431 CA8637399	168	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8637400 rs768941369	168	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA400140154 rs1474500564	170	S>T		No	ClinGen gnomAD
CA400140195 rs1446156028	173	A>G		No	ClinGen TOPMed
CA8637401 rs777157463	173	A>P		No	ClinGen ExAC gnomAD
rs777157463 CA400140191	173	A>S		No	ClinGen ExAC gnomAD
CA400140227 rs1330489124	175	A>G		No	ClinGen gnomAD
rs773857253 CA8637404	176	T>I		No	ClinGen ExAC gnomAD
rs1567883980 CA400140244	177	P>T		No	ClinGen Ensembl
CA400140256 rs1313243750	178	A>S		No	ClinGen gnomAD
COSM3387999 rs1313243750 CA400140252	178	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA400140275 rs1357338474	179	S>F		No	ClinGen gnomAD
rs767190694 CA8637406	181	T>I		No	ClinGen ExAC gnomAD
rs780151531 CA291440544	182	L>F		No	ClinGen Ensembl
TCGA novel	183	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1029981214 CA291440549	183	G>W		No	ClinGen TOPMed gnomAD
rs763877827 CA8637428	184	R>I		No	ClinGen ExAC TOPMed gnomAD
rs763877827 CA291440714	184	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1253926019 CA400140370	185	P>T		No	ClinGen gnomAD
rs761757074 CA8637430	186	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1305904015 CA400140380	186	P>T		No	ClinGen gnomAD
rs1353515070 CA400140400	188	I>S		No	ClinGen gnomAD
rs765243659 CA8637433	190	E>K		No	ClinGen ExAC gnomAD
CA400140437 rs1464054531	191	P>L		No	ClinGen TOPMed gnomAD
rs1193710247 CA400140449	192	V>G		No	ClinGen gnomAD
rs758463151 CA8637435	193	H>P		No	ClinGen ExAC gnomAD
rs751746635 CA8637437	194	L>P		No	ClinGen ExAC gnomAD
rs1405321081 CA400140464	195	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1405321081 CA400140466	195	P>R		No	ClinGen TOPMed
rs1458576545 CA400140463	195	P>S		No	ClinGen gnomAD
rs1462091216 CA400140480	198	P>S		No	ClinGen gnomAD
rs781461563 CA8637439	199	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1295343976 CA400140485	199	D>N		No	ClinGen TOPMed gnomAD
rs573287028 CA400140493	200	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs748501649 CA8637441	200	G>C		No	ClinGen ExAC gnomAD
rs573287028 CA8637442	200	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs748501649 CA291440765	200	G>R		No	ClinGen ExAC gnomAD
rs748501649 CA8637440	200	G>S		No	ClinGen ExAC gnomAD
rs1048385507 CA400140497	201	R>I		No	ClinGen TOPMed gnomAD
rs1048385507 CA400140496	201	R>K		No	ClinGen TOPMed gnomAD
CA291440770 rs1048385507	201	R>T		No	ClinGen TOPMed gnomAD
rs1181271489 CA400140502	202	L>F		No	ClinGen TOPMed
CA400140580 VAR_060243 rs616338	203	S>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8637444 rs771548372	204	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA291440772 rs1016412324	204	A>V		No	ClinGen TOPMed
CA400140529 rs868437723	205	A>P		No	ClinGen gnomAD
CA291440776 rs868437723	205	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs868437723 CA400140531	205	A>T		No	ClinGen gnomAD
CA400140538 rs1485065618	206	S>A		No	ClinGen TOPMed
rs746593958 CA8637446	206	S>Y		No	ClinGen ExAC gnomAD
rs199635084 CA8637448	208	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768409072 CA8637447	208	A>P		No	ClinGen ExAC gnomAD
rs768409072 CA400140555	208	A>S		No	ClinGen ExAC gnomAD
rs199635084 CA8637449	208	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8637451 rs616338 VAR_060993	209	F>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1475479708 CA400140588	210	S>F		No	ClinGen TOPMed gnomAD
rs1475479708 CA400140586	210	S>Y		No	ClinGen TOPMed gnomAD
rs868573721 CA291440804	211	L>M		No	ClinGen Ensembl
CA400140592 rs1367720005	211	L>R		No	ClinGen gnomAD
rs762812946 CA8637452	212	A>S		No	ClinGen ExAC
rs766418050 CA291440818	213	S>*		No	ClinGen ExAC gnomAD
rs766418050 CA8637453	213	S>W		No	ClinGen ExAC gnomAD
CA400140604 rs1457427664	214	A>S		No	ClinGen gnomAD
rs1298973247 CA400140607	214	A>V		No	ClinGen TOPMed gnomAD
rs751587712 CA400140608	215	G>C		No	ClinGen ExAC TOPMed gnomAD
CA8637454 rs751587712	215	G>S		No	ClinGen ExAC TOPMed gnomAD
rs762874167 CA8637469	217	A>P		No	ClinGen ExAC gnomAD
rs762874167 CA8637470	217	A>T		No	ClinGen ExAC gnomAD
CA8637473 rs559234442	218	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	218	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs972914652 CA291441044	219	G>D		No	ClinGen Ensembl
CA291441057 rs200867869	221	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8637474 rs200867869	221	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1015906035 CA291441061	222	G>E		No	ClinGen TOPMed
CA400140664 rs756329744	223	A>P		No	ClinGen ExAC TOPMed
CA8637476 rs756329744	223	A>T		No	ClinGen ExAC TOPMed
CA8637477 rs764364159	225	T>M		No	ClinGen ExAC TOPMed
CA8637478 rs764364159	225	T>R		No	ClinGen ExAC TOPMed
rs150532080 CA8637481	226	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs754487954 CA8637482	227	K>M		No	ClinGen ExAC TOPMed gnomAD
rs754487954 CA400140688	227	K>R		No	ClinGen ExAC TOPMed gnomAD
COSM1710446 rs369790283 CA8637483	228	G>R	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs769567980 CA8637485	229	Q>R		No	ClinGen ExAC gnomAD
CA400140706 rs1454730054	230	A>E		No	ClinGen gnomAD
CA400140703 rs1171935697	230	A>T		No	ClinGen TOPMed
rs1454730054 CA400140708	230	A>V		No	ClinGen gnomAD
CA400140712 rs1448585473	231	A>E		No	ClinGen gnomAD
TCGA novel	231	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8637487 rs749017262	233	P>S		No	ClinGen ExAC gnomAD
CA400140729 rs1432189050	234	A>D		No	ClinGen TOPMed gnomAD
CA400140726 rs1567884610	234	A>T		No	ClinGen Ensembl
rs1193613345 CA400140752	235	P>L		No	ClinGen gnomAD
rs774120052 CA8637489	235	P>S		No	ClinGen ExAC gnomAD
CA8637491 rs772068630	236	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8637490 rs759494930	236	P>S		No	ClinGen ExAC gnomAD
rs1236883803 CA400140795	238	P>L		No	ClinGen gnomAD
CA8637492 rs139539456	238	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368043560 CA8637496	240	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs368043560 CA8637495	240	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8637494 rs764197907	240	S>T		No	ClinGen ExAC gnomAD
CA400140834 rs1238875184	241	L>S		No	ClinGen TOPMed
rs993075248 CA291441142	242	D>G		No	ClinGen TOPMed
rs765656420 CA8637497	243	P>S		No	ClinGen ExAC gnomAD
rs371508417 CA8637500	244	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8637499 rs528296462	244	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752243727 CA8637501	245	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	246	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA291441164 rs1046275945	249	A>V		No	ClinGen Ensembl
CA8637505 rs770587088	250	V>I		No	ClinGen ExAC TOPMed gnomAD
CA400140934 rs770587088	250	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8637509 rs775453030	251	E>G		No	ClinGen ExAC gnomAD
rs771980419 CA8637508	251	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	252	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272667781 CA400140962	253	F>L		No	ClinGen gnomAD
CA8637510 rs760712996	254	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA291441214 rs999798939	255	R>W		No	ClinGen gnomAD
rs979191054 CA291441219	256	P>L		No	ClinGen TOPMed
rs768810295 CA8637511	256	P>T		No	ClinGen ExAC TOPMed gnomAD
CA400141030 rs1326982264	257	P>L		No	ClinGen gnomAD
TCGA novel	257	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762107097 CA8637513	258	T>A		No	ClinGen ExAC gnomAD
rs750812549 CA8637515	260	E>K		No	ClinGen ExAC gnomAD
CA400141090 rs1483589153	261	E>*		No	ClinGen gnomAD
CA400141103 rs1184775248	261	E>V		No	ClinGen gnomAD
CA291441239 rs763471257 CA8637516	262	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1410471236 CA400141118	262	L>S		No	ClinGen gnomAD
CA400141134 rs1380947834	263	S>A		No	ClinGen TOPMed
CA400141142 rs1166237434	263	S>F		No	ClinGen TOPMed gnomAD
CA8637518 rs752155600	264	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8637517 rs766971815	264	P>S		No	ClinGen ExAC gnomAD
rs1321185893 CA400141160	265	P>T		No	ClinGen gnomAD
CA291441250 rs530493979	266	P>A		No	ClinGen 1000Genomes
CA400141196 rs1348942353	267	P>L		No	ClinGen TOPMed gnomAD
CA400141195 rs1348942353	267	P>R		No	ClinGen TOPMed gnomAD
rs146244763 CA8637543	268	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA400141818 rs1172931594	269	E>G		No	ClinGen gnomAD
rs200803220 CA8637544	269	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs200803220 CA8637545	269	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1179362964 CA400141825	270	E>G		No	ClinGen gnomAD
rs758139880 CA8637546	270	E>Q		No	ClinGen ExAC gnomAD
CA400141839 rs1487356968	272	P>L		No	ClinGen TOPMed
rs1213183182 CA400141836	272	P>S		No	ClinGen TOPMed
rs746882582 CA8637549	274	P>L		No	ClinGen ExAC gnomAD
CA400141854 rs1238281636	275	L>R		No	ClinGen TOPMed
rs1598247744 CA400141858	276	D>A		No	ClinGen Ensembl
rs531789276 CA8637552	277	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA400141870 rs1295766501	278	P>R		No	ClinGen gnomAD
CA8637554 rs139368451	280	P>S		No	ClinGen ESP ExAC gnomAD
CA400141888 rs1343260378	281	P>L		No	ClinGen gnomAD
CA291442395 rs989833148	281	P>S		No	ClinGen TOPMed gnomAD
CA400141891 rs749546312	282	P>H		No	ClinGen ExAC TOPMed gnomAD
CA8637556 rs749546312	282	P>R		No	ClinGen ExAC TOPMed gnomAD
rs144160707 CA8637555	282	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs145120343 CA291442415	284	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8637558 rs145120343	284	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs199538050 CA8637560	287	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400141934 rs1379178933	289	G>R		No	ClinGen gnomAD
rs1476886855 CA400141940	290	L>Q		No	ClinGen gnomAD
rs768043594 CA8637561	291	P>L		No	ClinGen ExAC gnomAD
rs1389283967 CA400141949	292	P>A		No	ClinGen gnomAD
rs571637956 CA8637562 COSM561145	292	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs761344907 CA400141954	293	P>S		No	ClinGen ExAC TOPMed gnomAD
rs761344907 CA8637563	293	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400141961 rs527835287	294	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8637565 rs527835287	294	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8637564 rs764747679	294	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8637566 rs758050061	295	P>R		No	ClinGen ExAC gnomAD
rs1598247894 CA400141964	295	P>S		No	ClinGen Ensembl
rs1329720152 CA400141987	299	P>T		No	ClinGen gnomAD
CA8637570 rs373253578	307	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA291442475 rs1039159888	307	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8637574 rs370459926	310	L>F		No	ClinGen ESP ExAC gnomAD
CA8637572 rs377169529	310	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1298175859 CA400142095	313	V>E		No	ClinGen gnomAD
rs1298175859 CA400142097	313	V>G		No	ClinGen gnomAD
rs150100821 CA8637590	315	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	316	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	317	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8637591 rs756129561	318	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753942560 CA8637593	319	Y>C		No	ClinGen ExAC gnomAD
CA400142134 rs1598248401	320	T>P		No	ClinGen Ensembl
CA400142150 rs1567886368	322	Q>*		No	ClinGen Ensembl
rs757449192 CA8637595	322	Q>R		No	ClinGen ExAC gnomAD
CA400142155 rs1483854247	323	K>Q		No	ClinGen TOPMed
rs746098246 CA8637598	325	N>K		No	ClinGen ExAC gnomAD
rs780285683 CA8637599	327	L>F		No	ClinGen ExAC gnomAD
rs747472968 CA8637600	329	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1189462288 CA400142216	331	E>D		No	ClinGen TOPMed gnomAD
rs868426032 CA291442739	332	G>D		No	ClinGen Ensembl
rs1470311686 CA400142238	335	I>N		No	ClinGen Ensembl
rs1555618160 CA400142246	336	C>R		No	ClinGen Ensembl
rs935400940 CA291442757	336	C>W		No	ClinGen TOPMed
rs1203928220 CA400142259	337	V>I		No	ClinGen TOPMed
CA400142290 rs1428287682	338	T>N		No	ClinGen gnomAD
CA400142284 rs1598248512	338	T>P		No	ClinGen Ensembl
CA8637602 rs769138770	339	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769138770 CA8637603	339	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8637604 COSM1178244 rs201030368	339	R>H	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs770461624 CA8637605	340	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1049666028 CA291442783	340	R>H		No	ClinGen TOPMed gnomAD
CA400142312 rs1049666028	340	R>L		No	ClinGen TOPMed gnomAD
rs889485846 CA291442787	341	Y>N		No	ClinGen TOPMed gnomAD
CA291442790 rs895557686	342	S>P		No	ClinGen TOPMed gnomAD
rs759126049 CA8637608	343	D>N		No	ClinGen ExAC TOPMed gnomAD
CA400142375 rs1294545364	345	W>C		No	ClinGen gnomAD
rs752434272 CA8637610	346	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA291442807 rs750853755	347	E>K		No	ClinGen Ensembl
CA8637612 rs535107598	348	G>A		No	ClinGen ExAC TOPMed gnomAD
CA291442811 rs535107598	348	G>D		No	ClinGen ExAC TOPMed gnomAD
rs200202572 CA8637614	349	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400142509 rs1426345593	353	G>E		No	ClinGen gnomAD
CA291442831 rs999849494	358	P>A		No	ClinGen Ensembl
CA400142598 rs1446977246	360	N>S		No	ClinGen TOPMed
rs1468885131 CA400142684	366	C>Y		No	ClinGen TOPMed gnomAD

No associated diseases with Q9P2A4

3 regional properties for Q9P2A4

Type	Name	Position	InterPro Accession
domain	AMP-dependent synthetase/ligase domain	75 - 468	IPR000873
conserved_site	AMP-binding, conserved site	218 - 229	IPR020845
domain	AMP-binding enzyme, C-terminal domain	477 - 557	IPR025110

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm	Colocalizes with PAK2 at leading edge of cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
dendritic shaft	Cylindric portion of the dendrite, directly stemming from the perikaryon, and carrying the dendritic spines.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
SCAR complex	A pentameric complex that includes orthologues of human PIR121, Nap1, Abi, SCAR, and HSPC300 and regulates actin polymerization and/or depolymerization through small GTPase mediated signal transduction.

3 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
identical protein binding	Binding to an identical protein or proteins.
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.

9 GO annotations of biological process

Name	Definition
defense response to tumor cell	Reactions triggered in response to the presence of a tumor cell that act to protect the cell or organism.
negative regulation of lamellipodium assembly	Any process that decreases the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
negative regulation of protein localization to plasma membrane	Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to plasma membrane.
negative regulation of ruffle assembly	Any process that stops, prevents or reduces the frequency, rate or extent of ruffle assembly.
positive regulation of cellular senescence	Any process that activates or increases the frequency, rate or extent of cellular senescence.
regulation of actin cytoskeleton reorganization	Any process that modulates the frequency, rate or extent of actin cytoskeleton reorganization.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.
regulation of dendritic spine morphogenesis	Any process that modulates the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission.
regulation of postsynaptic density assembly	Any process that modulates the frequency, rate or extent of postsynaptic density assembly, the aggregation, arrangement and bonding together of a set of components to form a postsynaptic density.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BYZ1	Abi3	ABI gene family member 3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAELQQLQEF	EIPTGREALR	GNHSALLRVA	DYCEDNYVQA	TDKRKALEET	MAFTTQALAS
70	80	90	100	110	120
VAYQVGNLAG	HTLRMLDLQG	AALRQVEARV	STLGQMVNMH	MEKVARREIG	TLATVQRLPP
130	140	150	160	170	180
GQKVIAPENL	PPLTPYCRRP	LNFGCLDDIG	HGIKDLSTQL	SRTGTLSRKS	IKAPATPASA
190	200	210	220	230	240
TLGRPPRIPE	PVHLPVVPDG	RLSAASSAFS	LASAGSAEGV	GGAPTPKGQA	APPAPPLPSS
250	260	270	280	290	300
LDPPPPPAAV	EVFQRPPTLE	ELSPPPPDEE	LPLPLDLPPP	PPLDGDELGL	PPPPPGFGPD
310	320	330	340	350	360
EPSWVPASYL	EKVVTLYPYT	SQKDNELSFS	EGTVICVTRR	YSDGWCEGVS	SEGTGFFPGN

YVEPSC