AiPD: Autoinhibited Protein Database

Q9UHR4

Gene name	BAIAP2L1 (IRTKS)
Protein name	Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1
Names	BAI1-associated protein 2-like protein 1, Insulin receptor tyrosine kinase substrate
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55971
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

102-184 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

102-184 (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

3 structures for Q9UHR4

Entry ID	Method	Resolution	Chain	Position	Source
2KXC	NMR	-	A	339-402	PDB
2LNH	NMR	-	B	339-402	PDB
AF-Q9UHR4-F1	Predicted				AlphaFoldDB

427 variants for Q9UHR4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA163072439 rs868863743	2	S>F		No	ClinGen TOPMed
CA368287691 rs1173422706	3	R>L		No	ClinGen TOPMed gnomAD
CA368287689 rs1173422706	3	R>Q		No	ClinGen TOPMed gnomAD
rs985228159 CA163072436	3	R>W		No	ClinGen TOPMed gnomAD
rs1394001066 CA368287672	4	G>V		No	ClinGen gnomAD
CA368287662 rs1477895931	5	P>S		No	ClinGen gnomAD
rs1277882011 CA368287651	6	E>*		No	ClinGen Ensembl
rs768106761 CA163072430 CA4358339	7	E>D		No	ClinGen ExAC TOPMed gnomAD
rs527637662 CA4358340	7	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1481962770 CA368287618	9	N>K		No	ClinGen TOPMed gnomAD
rs543257182 CA4358338	11	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA163072412 rs973864173	12	T>M		No	ClinGen TOPMed
CA368287538 rs1211915453	15	T>I		No	ClinGen TOPMed gnomAD
rs1385094626 CA368287506	17	R>L		No	ClinGen TOPMed
CA368287514 rs1276655310	17	R>W		No	ClinGen gnomAD
CA368288362 rs1272863986	18	N>K		No	ClinGen gnomAD
CA4358322 rs777461054	19	V>A		No	ClinGen ExAC gnomAD
rs1353806888 CA368288265	24	N>S		No	ClinGen TOPMed
TCGA novel	25	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368288262 rs1319803255	25	P>T		No	ClinGen gnomAD
rs144661078 CA4358321	26	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs199641849 CA4358320	28	R>*		No	ClinGen ExAC gnomAD
CA4358319 rs368033137	28	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	30	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs553683865 CA4358317	32	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs755488496 CA4358318	32	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs919264468 CA163071464	35	K>N		No	ClinGen TOPMed
TCGA novel	36	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215476381 CA368288129	38	E>Q		No	ClinGen TOPMed
rs373919761 CA4358313	39	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	40	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	41	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368288085 rs1320317290	41	V>I		No	ClinGen gnomAD
rs202012767 CA4358311	43	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs986063929 CA163065757	44	M>I		No	ClinGen Ensembl
rs757433710 CA4358294	44	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4358293 rs754089769	45	I>M		No	ClinGen ExAC gnomAD
rs752815586 CA4358290	49	K>R		No	ClinGen ExAC gnomAD
CA368285651 rs1178094955	50	A>G		No	ClinGen gnomAD
rs182294434 CA163065745	51	Y>*		No	ClinGen 1000Genomes
rs1584480133 CA368285624	51	Y>F		No	ClinGen Ensembl
CA4358288 rs149353640	53	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs773006180 CA4358287	56	A>T		No	ClinGen ExAC gnomAD
CA368285483 rs1562782151	58	I>F		No	ClinGen Ensembl
rs139302290 CA368285466	58	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4358285 rs761520093	59	G>S		No	ClinGen ExAC TOPMed gnomAD
rs146904308 CA4358284	60	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368285408 rs1224084635	62	A>T		No	ClinGen gnomAD
TCGA novel	65	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4358283 rs768460446	66	P>A		No	ClinGen ExAC gnomAD
rs746509916 CA4358282	66	P>L		No	ClinGen ExAC gnomAD
rs1584480074 CA368285341	67	V>M		No	ClinGen Ensembl
rs1302270661 CA368285302	69	T>A		No	ClinGen gnomAD
rs772571986 CA4358280	69	T>S		No	ClinGen ExAC gnomAD
CA4358278 rs200833881	70	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368285284 rs1160529541	70	E>Q		No	ClinGen gnomAD
CA4358277 rs757639236	71	L>M		No	ClinGen ExAC gnomAD
rs765257878 CA4358248	73	H>R		No	ClinGen ExAC TOPMed gnomAD
CA163042345 rs1051908361	74	V>I		No	ClinGen TOPMed
CA4358247 rs369919591	76	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434475499 CA368277003	76	I>V		No	ClinGen gnomAD
CA368276979 rs753624941	77	E>G		No	ClinGen ExAC gnomAD
rs753624941 CA4358246	77	E>V		No	ClinGen ExAC gnomAD
TCGA novel	80	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4358244 rs142665035	81	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368276914 rs1456006483	82	H>D		No	ClinGen gnomAD
CA163042328 rs1041007786	82	H>Q		No	ClinGen TOPMed gnomAD
TCGA novel	83	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA163042311 rs1039435110	84	K>N		No	ClinGen Ensembl
CA4358243 rs775026520	85	L>F		No	ClinGen ExAC
rs1202867860 CA368276810	86	N>S		No	ClinGen TOPMed
rs758939769 CA4358241	87	E>K		No	ClinGen ExAC gnomAD
rs1195465746 CA368276738	88	S>I		No	ClinGen TOPMed gnomAD
rs767073062 CA4358224	95	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1236061361 CA368276426	96	F>L		No	ClinGen TOPMed
rs1482114333 CA368276348	101	I>V		No	ClinGen gnomAD
rs1282639000 CA368276319	102	H>L		No	ClinGen TOPMed gnomAD
rs1282639000 CA368276322	102	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	103	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765878797 CA4358221	107	K>E		No	ClinGen ExAC gnomAD
rs373864894 CA4358220	110	L>V		No	ClinGen ESP ExAC gnomAD
rs138465839 CA4358218	112	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA163042188 rs750053930	115	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs777108463	116	N>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	116	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368274857 rs1342347227	121	R>K		No	ClinGen TOPMed
rs202000281 CA163040499	122	Y>*		No	ClinGen TOPMed gnomAD
CA4358192 rs760758519	123	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4358190 rs150463891	124	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150463891 CA163040487	124	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368274772 rs1003865568	127	K>N		No	ClinGen TOPMed
rs1220792321 CA368274740	130	L>V		No	ClinGen TOPMed
rs1472506588 CA368274704	132	S>F		No	ClinGen gnomAD
rs1472506588 CA368274707	132	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368274696 rs1195433621	133	L>W		No	ClinGen gnomAD
rs1584448946 CA368274660	136	S>P		No	ClinGen Ensembl
rs748121075 CA4358185	139	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1426224430 CA368274538	142	K>M		No	ClinGen TOPMed
CA4358184 rs780811113	142	K>N		No	ClinGen ExAC gnomAD
rs1562971129 CA368274547	142	K>Q		No	ClinGen Ensembl
rs754827927 CA4358183	146	K>R		No	ClinGen ExAC gnomAD
CA4358181 rs199701552	148	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1166287413 CA368274414	148	Q>K		No	ClinGen TOPMed
CA4358180 rs758117375	150	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4358179 rs749875069	151	R>*		No	ClinGen ExAC TOPMed gnomAD
COSM1488817 CA163040461 rs140166928	151	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA
rs151171453 CA4358177	153	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA163040449 rs151171453	153	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs151171453 COSM1093524 CA4358176	153	A>T	thyroid endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1160836941 CA368274301	153	A>V		No	ClinGen gnomAD
CA4358175 rs764557675	154	L>F		No	ClinGen ExAC
rs761088430 CA4358174	154	L>P		No	ClinGen ExAC gnomAD
CA4358173 rs776062073	156	Y>H		No	ClinGen ExAC gnomAD
CA368274232 rs1472720346	157	E>D		No	ClinGen TOPMed gnomAD
CA4358171 rs759853402	158	H>R		No	ClinGen ExAC gnomAD
CA368274211 rs1187272007	159	K>E		No	ClinGen gnomAD
rs935295858 CA163040412	159	K>R		No	ClinGen TOPMed
rs935295858 CA368274207	159	K>T		No	ClinGen TOPMed
CA368274183 rs1470107082	160	E>D		No	ClinGen gnomAD
rs573492648 CA4358120	163	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1413113745 CA368273756	163	Y>H		No	ClinGen TOPMed gnomAD
rs372261639 CA368273749	164	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4358118 rs372261639	164	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4358116 rs746950122	166	T>I		No	ClinGen ExAC gnomAD
CA368273732 rs771874091	167	V>F		No	ClinGen ExAC TOPMed gnomAD
rs771874091 CA4358114	167	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4358113 rs745696149	168	T>I		No	ClinGen ExAC gnomAD
CA4358112 rs149032158	170	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748817830 CA4358110	170	R>H		No	ClinGen ExAC TOPMed gnomAD
CA368273715 rs748817830	170	R>P		No	ClinGen ExAC TOPMed gnomAD
rs149032158 CA4358111	170	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM748361 CA4358109 rs777162687 CA368273707	171	Q>H	lung urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756624211 CA368273702	172	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1286714361 CA368273706	172	S>R		No	ClinGen gnomAD
rs756624211 CA4358108	172	S>T		No	ClinGen ExAC TOPMed gnomAD
CA368273667 rs1302759318	177	F>L		No	ClinGen gnomAD
CA4358106 rs767945388	178	I>T		No	ClinGen ExAC gnomAD
CA368273659 rs1446385190	178	I>V		No	ClinGen gnomAD
CA368273650 rs1457064185	179	A>G		No	ClinGen gnomAD
rs755375985 CA4358105	183	K>*		No	ClinGen ExAC gnomAD
CA4358104 rs368698492	183	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs766624526 CA4358103	185	A>S		No	ClinGen ExAC TOPMed gnomAD
rs766624526 CA368273562	185	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	185	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	191	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	191	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773272850 CA4358101	192	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4358100 rs765327861	192	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1434676881 CA368273412	193	F>S		No	ClinGen gnomAD
CA4358099 rs760555411	194	C>S		No	ClinGen ExAC gnomAD
CA368273363 rs1266467054	196	L>V		No	ClinGen gnomAD
rs575106257 CA163039114	197	V>L		No	ClinGen TOPMed
TCGA novel	198	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368273298 rs1190486621	200	H>Y		No	ClinGen gnomAD
COSM3833568 rs775381596 CA4358098	201	C>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs772035865 CA4358097	202	G>D		No	ClinGen ExAC gnomAD
CA368273261 rs1309290061	202	G>R		No	ClinGen TOPMed
CA368273230 rs1321861377	204	A>S		No	ClinGen gnomAD
CA4358096 rs759369089	206	H>N		No	ClinGen ExAC gnomAD
rs1386995730 CA368273192	206	H>R		No	ClinGen gnomAD
CA4358093 rs144139913	208	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs770558838 CA4358094	208	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA4358092 rs777378217	210	Y>H		No	ClinGen ExAC gnomAD
CA4358091 rs761898382	210	Y>LTGNM*		No	ClinGen ExAC gnomAD
rs140394537 CA4358068	216	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4358067 rs374005251	217	L>V		No	ClinGen ESP ExAC gnomAD
CA163037101 rs986612919	219	N>Y		No	ClinGen Ensembl
CA4358065 rs747660284	221	K>E		No	ClinGen ExAC gnomAD
rs1236483901 CA368271993	221	K>N		No	ClinGen TOPMed
rs1433608026 CA368271980	223	P>S		No	ClinGen gnomAD
CA4358064 rs369904739	224	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA163037095 rs926840270	224	R>W		No	ClinGen TOPMed gnomAD
rs747498394 CA4358062	226	Q>R		No	ClinGen ExAC gnomAD
rs372690052 CA163037080	227	E>K		No	ClinGen ESP gnomAD
rs776896950 CA4358061	228	T>S		No	ClinGen ExAC TOPMed gnomAD
CA368271900 rs1234399259	230	V>I		No	ClinGen gnomAD
CA4358059 rs750823235	234	K>R		No	ClinGen ExAC gnomAD
CA368271791 rs1481100438	238	K>E		No	ClinGen TOPMed
rs1351951784 CA368271775	238	K>N		No	ClinGen TOPMed gnomAD
CA4358058 rs779100540	239	I>V		No	ClinGen ExAC TOPMed gnomAD
CA368271667 rs369077499	243	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs962262018 CA163037040	244	E>K		No	ClinGen TOPMed gnomAD
rs1466357156 CA368271634	245	E>V		No	ClinGen gnomAD
CA368271585 rs1376915630	247	K>N		No	ClinGen gnomAD
rs759479268 CA4358054	248	T>N		No	ClinGen ExAC gnomAD
CA4358055 rs764161950	248	T>P		No	ClinGen ExAC gnomAD
rs375051431 CA4358053	250	A>S		No	ClinGen ESP ExAC gnomAD
CA4358052 rs375051431	250	A>T		No	ClinGen ESP ExAC gnomAD
rs762626607 CA4358051	251	S>P		No	ClinGen ExAC gnomAD
CA368271514 rs1467265893	252	T>P		No	ClinGen gnomAD
CA368271518 rs1467265893	252	T>S		No	ClinGen gnomAD
CA368271468 rs1261582074	254	V>A		No	ClinGen gnomAD
rs543691854 CA4358048	254	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	256	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4358047 rs146234480	256	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768070618 CA4358046	257	T>S		No	ClinGen ExAC gnomAD
rs1288642154 CA368271403	258	P>L		No	ClinGen gnomAD
rs1374477814 CA368271395	259	Q>R		No	ClinGen TOPMed
rs1408655953 CA368271381	260	A>S		No	ClinGen gnomAD
CA4358045 rs746573777	260	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4358044 rs369112140	261	S>P		No	ClinGen ESP ExAC
rs906691083 CA163036954	262	P>R		No	ClinGen Ensembl
CA4358043 rs772700318	263	M>I		No	ClinGen ExAC TOPMed gnomAD
CA4358042 rs554904041	264	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4358040 rs749542573	265	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4358039 rs749542573	265	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA368271302 rs1275215189	265	E>V		No	ClinGen TOPMed
rs1412948506 CA368271270	267	S>N		No	ClinGen TOPMed gnomAD
CA4358037 rs200743492	268	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4358036 rs752863802	269	V>M		No	ClinGen ExAC TOPMed gnomAD
CA368271037 rs1363216329	273	D>N		No	ClinGen TOPMed
rs779175493 CA4358018	275	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4358017 rs781348688	275	D>V		No	ClinGen ExAC gnomAD
CA163036126 rs974517647	276	T>A		No	ClinGen gnomAD
rs768819567 CA4358016	278	S>A		No	ClinGen ExAC gnomAD
rs958117 CA163036118	278	S>F		No	ClinGen Ensembl
rs750421796 CA4358015	279	K>E		No	ClinGen ExAC gnomAD
rs757083747 CA4358014	280	C>G		No	ClinGen ExAC TOPMed gnomAD
rs757083747 CA4358013	280	C>R		No	ClinGen ExAC TOPMed gnomAD
CA4358012 rs753730581	281	S>P		No	ClinGen ExAC TOPMed gnomAD
rs75638449 CA4358011	285	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs760386510 CA4358010	286	P>S		No	ClinGen ExAC gnomAD
CA4358007 rs759987237	287	A>T		No	ClinGen ExAC TOPMed
rs1015977159 CA368270943	288	P>A		No	ClinGen TOPMed gnomAD
CA163036083 rs1015977159	288	P>S		No	ClinGen TOPMed gnomAD
CA368270921 rs1351810583	291	R>S		No	ClinGen gnomAD
CA368270919 rs1379482216	292	A>T		No	ClinGen gnomAD
rs774817215 CA4358005	293	Y>C		No	ClinGen ExAC gnomAD
CA368270902 rs1285348582	294	T>I		No	ClinGen TOPMed
rs771469558 CA4358004	296	P>L		No	ClinGen ExAC gnomAD
rs1424091703 CA368270893	296	P>T		No	ClinGen gnomAD
TCGA novel	297	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs528132030 CA4358002	298	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368270873 rs1390139204	299	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA368270875 rs1390139204	299	D>Y		No	ClinGen TOPMed gnomAD
CA368270856 rs1584439427	300	M>L		No	ClinGen Ensembl
rs370678062 CA163036067	300	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs370678062 CA4358000	300	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4357999 rs781097120	303	N>T		No	ClinGen ExAC gnomAD
rs768829897 CA4357998	306	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368270734 rs1490041144	307	A>G		No	ClinGen gnomAD
rs377479272 CA4357996	309	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA368270625 rs1342721267	313	R>S		No	ClinGen TOPMed gnomAD
rs192892688 CA4357995	314	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368270581 rs1402690445	316	N>D		No	ClinGen TOPMed
rs1047256094 CA163036041	318	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	319	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1453082670 CA368269604	320	T>A		No	ClinGen gnomAD
rs373903465 CA4357938	322	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs910848960 CA163034586	323	D>E		No	ClinGen Ensembl
rs370330772 CA4357937	324	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4357936 rs776372800	327	Q>P		No	ClinGen ExAC gnomAD
rs1385972037 CA368269551	328	R>*		No	ClinGen TOPMed gnomAD
rs1385972037 CA368269552	328	R>G		No	ClinGen TOPMed gnomAD
CA4357934 rs776775180	328	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4357935 rs776775180	328	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	329	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368269542 rs1468701359	330	V>I		No	ClinGen gnomAD
COSM1093519 CA368269533 rs1370693898	331	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4357932 rs548162860	332	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4357931 rs745321866	334	T>K		No	ClinGen ExAC gnomAD
CA368269516 rs745321866	334	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368269510 rs1584435076	335	G>V		No	ClinGen Ensembl
rs1448332935 CA368269506	336	L>Q		No	ClinGen gnomAD
rs1209701200 CA368269494	338	M>T		No	ClinGen TOPMed
rs375720056 CA4357928	338	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4357927 rs778472252	339	M>K		No	ClinGen ExAC gnomAD
CA4357926 rs756516093	340	K>E		No	ClinGen ExAC
CA4357925 rs753179786	341	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA163034517 rs1010474038	341	K>R		No	ClinGen TOPMed
CA163034491 rs770715389	349	P>L		No	ClinGen TOPMed gnomAD
CA368269250 rs1455180678	351	T>I		No	ClinGen TOPMed
CA4357921 rs766388826	352	A>V		No	ClinGen ExAC TOPMed gnomAD
CA368269213 rs1317978876	353	G>D		No	ClinGen TOPMed gnomAD
rs372396280 CA4357917	355	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs745532455 CA4357914	356	K>M		No	ClinGen ExAC gnomAD
CA4357913 rs778447462	356	K>N		No	ClinGen ExAC gnomAD
CA4357915 rs745532455	356	K>R		No	ClinGen ExAC gnomAD
CA368269102 rs1242325172	360	S>G		No	ClinGen TOPMed gnomAD
CA4357910 rs778411071	362	A>V		No	ClinGen ExAC gnomAD
rs1293247835 CA368269042	363	Q>*		No	ClinGen gnomAD
rs756751298 CA4357909 COSM1453118	364	G>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA368268987 rs1584434931	365	D>V		No	ClinGen Ensembl
CA4357908 rs753042967	367	I>V		No	ClinGen ExAC gnomAD
CA4357907 rs199901153	368	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs999148292 CA163034359	369	L>P		No	ClinGen TOPMed
CA163034371 rs999148292	369	L>Q		No	ClinGen TOPMed
rs1483302682 CA368268884	370	L>P		No	ClinGen TOPMed
rs766661364 CA4357904	370	L>V		No	ClinGen ExAC gnomAD
rs762994172 CA4357903	372	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1420443537 CA368268802	373	E>*		No	ClinGen TOPMed
CA368268714 rs901977066 CA163034314	375	K>N		No	ClinGen TOPMed
rs763956818 CA4357901	376	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4357899 rs546267054	380	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs564556684 CA4357900	380	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759417905 CA368268513	383	H>D		No	ClinGen ExAC gnomAD
rs759417905 CA4357897	383	H>Y		No	ClinGen ExAC gnomAD
CA4357894 CA163034260 rs147254651	384	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770765810 CA4357895	384	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs371521644 CA163034281	384	D>N		No	ClinGen ESP TOPMed gnomAD
CA4357892 rs199631304	385	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368268408 rs1266683120	386	S>C		No	ClinGen TOPMed gnomAD
CA368268411 rs1266683120	386	S>Y		No	ClinGen TOPMed gnomAD
CA4357891 rs76352870	387	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747446690 CA4357889	388	A>E		No	ClinGen ExAC gnomAD
rs781577715 CA4357890	388	A>T		No	ClinGen ExAC gnomAD
rs747446690 CA4357888	388	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	390	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4357859 rs762651885	390	G>V		No	ClinGen ExAC gnomAD
CA368267410 rs1460117376	391	W>R		No	ClinGen gnomAD
rs1262754916 CA368267386	392	F>I		No	ClinGen gnomAD
rs1262754916 CA368267388	392	F>L		No	ClinGen gnomAD
rs973646026 CA163033140	393	P>L		No	ClinGen TOPMed
CA4357858 rs565003158	394	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761212599 CA4357856	395	S>L		No	ClinGen ExAC gnomAD
rs761212599 CA368267331	395	S>W		No	ClinGen ExAC gnomAD
rs768990780 CA368267286	397	T>K		No	ClinGen ExAC TOPMed gnomAD
CA4357854 rs768990780	397	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA163033107 rs866394377	402	E>K		No	ClinGen Ensembl
CA4357851 rs772397097	403	N>D		No	ClinGen ExAC gnomAD
rs746282005 CA4357850	403	N>K		No	ClinGen ExAC gnomAD
rs1156318471 CA368267158	404	E>D		No	ClinGen gnomAD
CA368267177 rs1390173400	404	E>K		No	ClinGen TOPMed
rs1426417340 CA368267138	405	T>I		No	ClinGen gnomAD
CA368267047 rs1421884968	409	T>N		No	ClinGen gnomAD
TCGA novel	410	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4357846 rs777922061	410	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1200789253 CA368267026	411	P>A		No	ClinGen TOPMed gnomAD
rs751577726 CA368267009	412	T>K		No	ClinGen ExAC TOPMed gnomAD
CA4357844 rs751577726	412	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA163033026 rs989829844	413	P>L		No	ClinGen TOPMed
rs1444351203 CA368266783	416	T>I		No	ClinGen TOPMed
CA368266756 rs1421739212	420	S>R		No	ClinGen gnomAD
rs76206450 CA4357815	422	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1428614897 CA368266162	423	T>I		No	ClinGen gnomAD
rs754304518 CA4357813	424	V>M		No	ClinGen ExAC TOPMed gnomAD
CA4357809 rs752273587	428	E>D		No	ClinGen ExAC gnomAD
rs138915707 CA4357810	428	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA368266070 rs1255749845	429	N>S		No	ClinGen gnomAD
CA4357808 rs767946452	432	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1323822131 CA368266042	433	V>D		No	ClinGen gnomAD
CA368266034 rs1307692757	434	I>M		No	ClinGen gnomAD
CA368266035 rs1337444362	434	I>T		No	ClinGen TOPMed gnomAD
CA4357807 rs760050605	434	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4357806 rs774647666	435	P>L		No	ClinGen ExAC gnomAD
CA163030822 rs955387574	436	P>A		No	ClinGen TOPMed gnomAD
rs1405664842	436	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA368266026 rs763264973	436	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4357804 rs763264973	436	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA163030820 rs763264973	436	P>R		No	ClinGen ExAC TOPMed gnomAD
rs955387574 CA368266027	436	P>S		No	ClinGen TOPMed gnomAD
CA368266028 rs955387574	436	P>T		No	ClinGen TOPMed gnomAD
CA368266008 rs1364864838	439	Y>C		No	ClinGen gnomAD
rs1455456284 CA368266010	439	Y>H		No	ClinGen gnomAD
CA368265994 rs1438384886	441	E>*		No	ClinGen gnomAD
rs1045916 CA368265975	443	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748231017 CA4357801	443	L>S		No	ClinGen ExAC gnomAD
rs772090261 CA4357799	444	S>C		No	ClinGen ExAC gnomAD
rs1352301789 CA368265965	445	M>R		No	ClinGen gnomAD
rs745836243 CA4357798	445	M>V		No	ClinGen ExAC gnomAD
rs1260806784 CA368265955	447	A>T		No	ClinGen gnomAD
rs1239267362 CA368265950	447	A>V		No	ClinGen gnomAD
rs35637370 CA4357797	448	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368265941 rs140375412	449	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140375412 CA4357796	449	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368265934 rs1453152390	449	A>V		No	ClinGen gnomAD
CA4357793 rs146759713	450	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4357794 rs199846779	450	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	450	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385670427 CA368265898	453	A>T		No	ClinGen gnomAD
CA4357792 rs752145265	453	A>V		No	ClinGen ExAC gnomAD
CA4357790 rs755438315	454	D>Y		No	ClinGen ExAC gnomAD
CA163030757 rs896193988	455	S>L		No	ClinGen Ensembl
CA163030725 rs984939810	456	A>T		No	ClinGen TOPMed
rs1277634396 CA368265853	456	A>V		No	ClinGen TOPMed
COSM1184425 rs763359639 CA4357787	458	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA368265826 rs1448384273	459	T>A		No	ClinGen TOPMed gnomAD
CA4357784 VAR_033515 rs2269966	460	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	462	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4357782 rs768829611	465	P>A		No	ClinGen ExAC
rs747137198 CA163030678	466	A>E		No	ClinGen ExAC TOPMed gnomAD
CA163030683 rs1002541151	466	A>T		No	ClinGen Ensembl
CA4357781 rs747137198	466	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1043973733 CA163030675 COSM453637	467	S>F	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4357778 rs373469430	470	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1584427291 CA368265702	471	T>P		No	ClinGen Ensembl
CA4357776 rs755715743	472	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4357775 rs144083350	472	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368278884 rs1366082014	476	D>A		No	ClinGen gnomAD
rs760822063 CA4357742	476	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752773992 CA4357741	477	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4357739 rs759700340	479	G>R		No	ClinGen ExAC TOPMed gnomAD
CA368278845 rs149794421	480	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4357738 rs149794421	480	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368278839 rs1463687486	480	T>S		No	ClinGen gnomAD
CA4357737 rs769779241	481	A>P		No	ClinGen ExAC gnomAD
CA368278833 rs769779241	481	A>S		No	ClinGen ExAC gnomAD
rs539047916 CA4357736	483	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368278811 rs539047916	483	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4357733 rs746660259	484	P>L		No	ClinGen ExAC gnomAD
CA4357734 rs768295005	484	P>S		No	ClinGen ExAC gnomAD
CA4357732 rs779573408	486	L>R		No	ClinGen ExAC gnomAD
rs552665606 CA163077548	488	G>E		No	ClinGen gnomAD
CA4357690 COSM1159601 rs748855987	488	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs147238224 CA4357688	490	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4357689 rs773576571	490	N>T		No	ClinGen ExAC gnomAD
rs1192225085 CA368278690	491	P>L		No	ClinGen TOPMed
rs1450420227 CA368278675	494	T>P		No	ClinGen TOPMed
rs755140037 CA4357684	496	K>N		No	ClinGen ExAC gnomAD
CA4357683 rs747260481	497	L>P		No	ClinGen ExAC gnomAD
rs944762900 CA163077457	498	R>C		No	ClinGen TOPMed
rs200664023 CA4357682	498	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4357681 rs200664023	498	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4357679 rs372016426	499	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1297348423 CA368278638	500	T>I		No	ClinGen gnomAD
COSM2157143 CA4357677 rs140138864	502	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4357678 rs140138864	502	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4357675 rs759446214	503	N>S		No	ClinGen ExAC TOPMed gnomAD
rs368322115 CA4357674	505	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4357673 rs150903646	505	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368878066 CA368278588	506	S>L		No	ClinGen TOPMed gnomAD
CA368278586 rs1171573395	507	A>P		No	ClinGen gnomAD
rs772784086 COSM1313457 CA4357671	510	I>T	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1421515060 CA368278552	510	I>V		No	ClinGen gnomAD
CA368278539 rs1439499536	511	R>*		No	ClinGen TOPMed gnomAD
CA4357670 rs148346840	511	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA163077393 rs868313377	512	R>W		No	ClinGen Ensembl

No associated diseases with Q9UHR4

4 regional properties for Q9UHR4

Type	Name	Position	InterPro Accession
domain	SH3 domain	339 - 402	IPR001452
domain	IMD/I-BAR domain	1 - 249	IPR013606
domain	Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1, I-BAR domain	6 - 231	IPR030060
domain	IRTKS, SH3 domain	342 - 399	IPR035592

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton	Recruited to actin pedestals that are formed upon infection by bacteria at bacterial attachment sites
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
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.
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.

3 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
cadherin binding involved in cell-cell adhesion	Any cadherin binding that occurs as part of the process of cell-cell adhesion.
proline-rich region binding	Binding to a proline-rich region, i.e. a region that contains a high proportion of proline residues, in a protein.

7 GO annotations of biological process

Name	Definition
actin crosslink formation	The process in which two or more actin filaments are connected together by proteins that act as crosslinks between the filaments. The crosslinked filaments may be on the same or differing axes.
actin filament bundle assembly	The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness.
plasma membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane.
positive regulation of actin cytoskeleton reorganization	Any process that activates or increases the frequency, rate or extent of actin cytoskeleton reorganization.
positive regulation of actin filament polymerization	Any process that activates or increases the frequency, rate or extent of actin polymerization.
regulation of insulin receptor signaling pathway	Any process that modulates the frequency, rate or extent of insulin receptor signaling.
response to bacterium	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6UXY1	BAIAP2L2	Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2	Homo sapiens (Human)	PR
Q9UQB8	BAIAP2	Brain-specific angiogenesis inhibitor 1-associated protein 2	Homo sapiens (Human)	EV
Q80Y61	Baiap2l2	Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2	Mus musculus (Mouse)	PR
Q8BKX1	Baiap2	BAR/IMD domain-containing adapter protein 2	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MSRGPEEVNR	LTESTYRNVM	EQFNPGLRNL	INLGKNYEKA	VNAMILAGKA	YYDGVAKIGE
70	80	90	100	110	120
IATGSPVSTE	LGHVLIEISS	THKKLNESLD	ENFKKFHKEI	IHELEKKIEL	DVKYMNATLK
130	140	150	160	170	180
RYQTEHKNKL	ESLEKSQAEL	KKIRRKSQGS	RNALKYEHKE	IEYVETVTSR	QSEIQKFIAD
190	200	210	220	230	240
GCKEALLEEK	RRFCFLVDKH	CGFANHIHYY	HLQSAELLNS	KLPRWQETCV	DAIKVPEKIM
250	260	270	280	290	300
NMIEEIKTPA	STPVSGTPQA	SPMIERSNVV	RKDYDTLSKC	SPKMPPAPSG	RAYTSPLIDM
310	320	330	340	350	360
FNNPATAAPN	SQRVNNSTGT	SEDPSLQRSV	SVATGLNMMK	KQKVKTIFPH	TAGSNKTLLS
370	380	390	400	410	420
FAQGDVITLL	IPEEKDGWLY	GEHDVSKARG	WFPSSYTKLL	EENETEAVTV	PTPSPTPVRS
430	440	450	460	470	480
ISTVNLSENS	SVVIPPPDYL	ECLSMGAAAD	RRADSARTTS	TFKAPASKPE	TAAPNDANGT
490	500	510
AKPPFLSGEN	PFATVKLRPT	VTNDRSAPII	R