AiPD: Autoinhibited Protein Database

Q9UBW5

Gene name	BIN2 (BRAP1)
Protein name	Bridging integrator 2
Names	Breast cancer-associated protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51411
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

225-513 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

225-513 (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 Q9UBW5

Entry ID	Method	Resolution	Chain	Position	Source
4AVM	X-ray	191 A	A	11-245	PDB
4I1Q	X-ray	253 A	A/B	20-238	PDB
AF-Q9UBW5-F1	Predicted				AlphaFoldDB

431 variants for Q9UBW5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA384865994 rs1565695821	2	A>E		No	ClinGen Ensembl
CA384866000 rs1248791086	2	A>T		No	ClinGen TOPMed
CA6569245 rs749090623	3	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1592290705 CA384865988	3	E>K		No	ClinGen Ensembl
CA6569244 rs779915952	4	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1326599760 CA384865944	6	A>T		No	ClinGen gnomAD
rs745377859 CA6569242	6	A>V		No	ClinGen ExAC gnomAD
CA6569241 rs780623962	8	G>V		No	ClinGen ExAC gnomAD
rs756925855 CA6569240	9	A>T		No	ClinGen ExAC gnomAD
CA384865892 rs1184050111	11	G>S		No	ClinGen TOPMed gnomAD
rs935960459 CA236316769	13	F>L		No	ClinGen Ensembl
CA6569238 rs777374690	14	A>T		No	ClinGen ExAC gnomAD
CA6569237 rs758737740	14	A>V		No	ClinGen ExAC gnomAD
rs376204352 CA236316742	15	K>R		No	ClinGen gnomAD
rs1275567065 CA384865835	16	Q>*		No	ClinGen gnomAD
rs1247356518 CA384865820	17	V>L		No	ClinGen TOPMed
rs1247356518 CA384865822	17	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA384865800 rs1314772643	18	Q>L		No	ClinGen gnomAD
TCGA novel	20	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1228885615 CA384865774	20	K>R		No	ClinGen gnomAD
rs760020602 CA6569233	22	S>N		No	ClinGen ExAC gnomAD
rs374696948 CA384865754	22	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs766513059 CA384865745	24	A>P		No	ClinGen ExAC gnomAD
CA6569231 rs766513059	24	A>T		No	ClinGen ExAC gnomAD
CA384865741 rs1422230637	24	A>V		No	ClinGen gnomAD
CA384865736 rs1164861056	25	Q>R		No	ClinGen gnomAD
rs1592279105 CA384864959	28	V>M		No	ClinGen Ensembl
TCGA novel	30	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313633782 CA384864887	33	G>E		No	ClinGen gnomAD
rs1051647162 CA236310029	33	G>R		No	ClinGen gnomAD
CA384864831 rs1483752927	38	T>P		No	ClinGen TOPMed gnomAD
rs1376616352 CA384864804	40	D>N		No	ClinGen TOPMed
CA384864772 rs539014719	42	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6569205 rs539014719	42	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA236310009 rs1017332664	44	E>*		No	ClinGen TOPMed gnomAD
rs1007234519 CA236309989	45	Q>H		No	ClinGen TOPMed
CA6569203 rs770841763	46	S>N		No	ClinGen ExAC gnomAD
rs892811401 CA236309985	47	A>T		No	ClinGen TOPMed gnomAD
rs1373616594 CA384864721	47	A>V		No	ClinGen TOPMed
CA6569201 rs7312857 VAR_028883	48	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs7312857 CA384864715	48	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747783381 CA6569199	49	N>I		No	ClinGen ExAC gnomAD
rs1176986357 CA384864707	49	N>K		No	ClinGen gnomAD
rs771635732 CA6569200	49	N>Y		No	ClinGen ExAC gnomAD
rs779172778 CA6569198	51	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs956534423 CA236302204	56	E>V		No	ClinGen TOPMed
rs1342771672 CA384864600	58	H>R		No	ClinGen gnomAD
TCGA novel	59	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384864553 rs1313949194	61	Y>*		No	ClinGen TOPMed gnomAD
CA6569176 rs781521252	62	K>N		No	ClinGen ExAC gnomAD
CA384864540 rs1216726298	62	K>R		No	ClinGen TOPMed
rs1444743464 CA384864490	66	N>D		No	ClinGen TOPMed
rs1430504528 CA384864471	67	F>V		No	ClinGen gnomAD
rs34119627 CA236302172	68	L>F		No	ClinGen Ensembl
CA236302178 rs34119627	68	L>I		No	ClinGen Ensembl
CA6569170 rs147235873	70	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6569171 rs147235873	70	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1161982744 CA384864397	73	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA384864335 TCGA novel rs1199706594	74	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
TCGA novel	74	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6569154 rs564147412	74	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs368812192 CA6569153	75	H>P		No	ClinGen ESP ExAC gnomAD
rs1468274446 CA384864314	76	E>*		No	ClinGen TOPMed
TCGA novel	76	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752872701 CA6569152	81	V>A		No	ClinGen ExAC gnomAD
rs1204995475 CA384864184	90	S>N		No	ClinGen gnomAD
CA384864173 rs750169427	91	S>R		No	ClinGen ExAC gnomAD
CA6569150 rs144102822	91	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384864169 rs1299610017	92	E>G		No	ClinGen TOPMed
CA6569148 rs555115486	92	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs751140007 CA6569146	95	G>D		No	ClinGen ExAC TOPMed gnomAD
CA384864148 rs1273261212	95	G>S		No	ClinGen TOPMed gnomAD
CA384864139 rs1317710617	96	H>R		No	ClinGen gnomAD
rs1331694675 CA384864143	96	H>Y		No	ClinGen TOPMed gnomAD
CA384864131 rs1221141071	97	E>G		No	ClinGen TOPMed
TCGA novel	99	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762521366 CA6569144	101	A>V		No	ClinGen ExAC gnomAD
CA6569143 rs199694240	102	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6569141 rs760014450	103	V>A		No	ClinGen ExAC
rs769557937 CA6569142	103	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6569125 rs146410757	105	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1007916122 CA236296645	105	N>I		No	ClinGen Ensembl
CA6569124 rs146410757	105	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs764945899 CA6569123	106	N>D		No	ClinGen ExAC gnomAD
CA6569122 rs759052022	106	N>S		No	ClinGen ExAC gnomAD
CA6569121 rs777075653	107	D>Y		No	ClinGen ExAC gnomAD
CA384863821 rs1592267662	109	L>F		No	ClinGen Ensembl
CA384863810 rs1202385654	110	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6569119 rs542179917	114	E>K	Variant assessed as Somatic; 9.243e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA384863743 rs1200952780	119	D>E		No	ClinGen TOPMed
CA6569116 rs748291125	120	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA384863735 rs1305727259	120	Q>H		No	ClinGen gnomAD
rs1431120612 CA384863732	121	A>T		No	ClinGen gnomAD
rs1565680777 CA384863728	122	V>I		No	ClinGen Ensembl
CA236296569 rs983431162	124	T>N		No	ClinGen TOPMed
rs143984628 CA6569115	125	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6569114 rs768947422	129	V>I		No	ClinGen ExAC gnomAD
CA6569113 rs546375480	130	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780296457 CA6569112	131	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1473306528 CA384863667	131	Q>P		No	ClinGen gnomAD
CA236296532 rs200637291	135	I>M		No	ClinGen Ensembl
TCGA novel	135	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1030585767 CA236296521	136	K>E		No	ClinGen TOPMed
rs774523510 CA6569095	138	R>T		No	ClinGen ExAC gnomAD
CA6569094 rs768661735	139	I>V		No	ClinGen ExAC TOPMed gnomAD
CA384863519 rs1190720080 CA384863521	141	K>N		No	ClinGen TOPMed gnomAD
CA6569093 rs749365314	141	K>R		No	ClinGen ExAC gnomAD
rs770052008 CA236294923	142	R>L		No	ClinGen ExAC gnomAD
CA6569091 rs770052008	142	R>P		No	ClinGen ExAC gnomAD
CA384863512 rs770052008	142	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6569092 rs374011518	142	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6569089 rs777651541	143	G>R		No	ClinGen ExAC gnomAD
CA6569088 rs758431238	143	G>V		No	ClinGen ExAC gnomAD
CA384863498 rs1329459156	144	R>Q		No	ClinGen gnomAD
rs969445320 CA236294913	144	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6569087 rs748057174	146	L>R		No	ClinGen ExAC gnomAD
rs576769629 CA6569086	147	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6569085 rs761737319	151	S>R		No	ClinGen ExAC gnomAD
CA236294878 rs774401820	152	A>S		No	ClinGen Ensembl
rs753374931 CA6569084	153	R>*		No	ClinGen ExAC gnomAD
CA6569083 rs139065319	153	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	157	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs577030938 CA236294854	160	Q>E		No	ClinGen Ensembl
CA384863275 rs1412983865	161	N>D		No	ClinGen gnomAD
rs192943143 CA236294829	162	A>D		No	ClinGen 1000Genomes
CA384863244 rs1175559937	163	K>R		No	ClinGen gnomAD
CA6569080 rs767830479	166	D>G		No	ClinGen ExAC gnomAD
rs762135863 CA6569079	167	E>K		No	ClinGen ExAC gnomAD
CA6569052 rs374148495	173	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157988719 CA384863076	174	E>G		No	ClinGen TOPMed
rs771264691 CA6569051	174	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1294070066 CA384863070	175	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	178	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs994468460 CA236294343	178	N>K		No	ClinGen Ensembl
CA236294332 rs868484597	182	T>A		No	ClinGen Ensembl
CA384863016 rs761578835	182	T>I		No	ClinGen ExAC gnomAD
CA6569050 rs761578835	182	T>S		No	ClinGen ExAC gnomAD
rs898735266 CA236294321	183	V>M		No	ClinGen Ensembl
rs200686598 CA236294312	184	F>L		No	ClinGen Ensembl
rs774127762 CA6569049	185	E>G		No	ClinGen ExAC TOPMed gnomAD
rs768489810 CA6569048	189	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1437987026 CA384862972	189	Q>R		No	ClinGen TOPMed gnomAD
rs779936952 CA6569046	190	E>D		No	ClinGen ExAC gnomAD
CA6569047 rs142121602	190	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	193	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769343422 CA6569045	196	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200936405 CA6569043	198	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200936405 CA6569042	198	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200936405 CA6569044	198	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384862909 rs751886413	199	Y>*		No	ClinGen ExAC
rs1425268528 CA384862907	200	N>D		No	ClinGen gnomAD
CA384862900 rs1347721718	201	S>R		No	ClinGen TOPMed
rs1251843020 CA384862372	202	R>C		No	ClinGen TOPMed
CA6569022 rs758843494	202	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA384862356 rs1462449564	203	I>T		No	ClinGen TOPMed gnomAD
CA6569021 rs748506580	205	C>W		No	ClinGen ExAC TOPMed gnomAD
rs779630216 CA384862314	206	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs927716722 CA236292270	206	Y>C		No	ClinGen gnomAD
CA6569018 rs753978577	208	T>N		No	ClinGen ExAC TOPMed gnomAD
CA6569015 rs750707326	209	I>F		No	ClinGen ExAC gnomAD
rs767620861 CA6569014	214	S>P		No	ClinGen ExAC gnomAD
CA384862195 rs1565677265	215	N>S		No	ClinGen Ensembl
CA6569012 rs762873792	217	R>K		No	ClinGen ExAC gnomAD
TCGA novel	217	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395101232 CA384862160	217	R>S		No	ClinGen gnomAD
rs1455409057 CA384862156	218	D>G		No	ClinGen TOPMed gnomAD
CA6569011 rs775203351	218	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1455409057 CA384862155	218	D>V		No	ClinGen TOPMed gnomAD
rs1158728902 CA384862116	223	E>D		No	ClinGen gnomAD
rs1377104913 CA384862115	224	M>V		No	ClinGen TOPMed
CA384862080 rs1592260844	227	L>M		No	ClinGen Ensembl
CA6568986 rs371296230	229	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442084145 CA384862056	230	N>S		No	ClinGen TOPMed gnomAD
CA6568983 rs572287300	233	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572287300 CA6568984	233	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1348606574 CA384862028	234	V>A		No	ClinGen gnomAD
rs1273990728 CA384862020	235	M>I		No	ClinGen gnomAD
CA384862010 rs1384561947 CA384862011	236	S>R		No	ClinGen TOPMed gnomAD
rs1226177449 CA384862007	237	K>*		No	ClinGen TOPMed gnomAD
rs1226177449 CA384862009	237	K>Q		No	ClinGen TOPMed gnomAD
rs1217265071 CA384861979	241	Q>E		No	ClinGen TOPMed
CA236290874 rs1046190796	241	Q>R		No	ClinGen Ensembl
rs1452239254 CA384861956	244	N>S		No	ClinGen TOPMed
CA6568982 rs148656859	244	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1473659219 CA384861939	246	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs780678634 CA6568979	247	F>S		No	ClinGen ExAC gnomAD
rs770133337 CA6568978	248	V>G		No	ClinGen ExAC TOPMed gnomAD
CA6568977 rs745978130	249	V>A		No	ClinGen ExAC gnomAD
CA236290838 rs954826242	253	S>P		No	ClinGen TOPMed
rs575023408 CA6568965	256	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs774206846 CA6568964	258	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1167510580 CA384861852	258	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs774206846 CA384861853	258	R>S		No	ClinGen ExAC TOPMed gnomAD
CA384861821 rs1195355631	263	S>T		No	ClinGen TOPMed
CA384861812 rs1244501309	264	P>L		No	ClinGen gnomAD
rs1291691495 CA384861815	264	P>S		No	ClinGen gnomAD
rs1057181400 CA384861807	265	P>L		No	ClinGen TOPMed gnomAD
rs1057181400 CA236288295	265	P>R		No	ClinGen TOPMed gnomAD
CA236288290 rs558389492	266	V>I		No	ClinGen 1000Genomes
CA384861801 rs763415924	267	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763415924 CA6568962	267	R>G		No	ClinGen ExAC gnomAD
CA6568961 rs775660611	267	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1233627634 CA384861797	268	T>A		No	ClinGen gnomAD
rs746325188 CA6568959	272	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	274	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384861759 rs1224982795	274	P>S		No	ClinGen gnomAD
rs370582865 CA6568957	276	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370582865 CA6568958	276	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1292428796 CA384861737	278	P>S		No	ClinGen gnomAD
CA384861732 rs1436442266	279	T>A		No	ClinGen TOPMed gnomAD
rs1592255594 CA384861730	279	T>N		No	ClinGen Ensembl
CA384861733 rs1436442266	279	T>P		No	ClinGen TOPMed gnomAD
CA6568956 rs373203887	280	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA384861726 rs373203887	280	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6568955 rs143690157	281	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6568954 rs758545409	284	L>R		No	ClinGen ExAC gnomAD
CA384861697 rs1166851806	285	S>P		No	ClinGen TOPMed
CA384861689 rs1408860776	286	L>S		No	ClinGen TOPMed gnomAD
CA6568951 rs756105970	289	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs566850655 CA6568952	289	E>G		No	ClinGen ExAC gnomAD
rs767550269 CA6568950	290	S>C		No	ClinGen ExAC gnomAD
CA384861659 rs1393197417	290	S>R		No	ClinGen TOPMed
rs767550269 CA6568949	290	S>R		No	ClinGen ExAC gnomAD
rs1214100921 CA384861652	291	E>G		No	ClinGen gnomAD
CA384861643 rs1265993944	293	V>I		No	ClinGen TOPMed gnomAD
CA384861642 rs1265993944	293	V>L		No	ClinGen TOPMed gnomAD
rs751047795 CA6568947	294	S>*		No	ClinGen ExAC gnomAD
CA6568946 rs763853539	297	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA236288202 rs200548641	298	D>N		No	ClinGen 1000Genomes
rs762467824 CA6568945	301	P>T		No	ClinGen ExAC TOPMed gnomAD
rs775958753 CA6568944	304	A>G		No	ClinGen ExAC gnomAD
rs759926415 CA6568942	305	Q>R		No	ClinGen ExAC gnomAD
rs1388437044 CA384861538	309	N>S		No	ClinGen gnomAD
rs138195736 CA236288167	310	S>F		No	ClinGen ESP gnomAD
TCGA novel	310	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236288142 rs868179494	314	E>*		No	ClinGen Ensembl
CA6568936 rs748279114	319	E>K		No	ClinGen ExAC gnomAD
rs1445261575 CA384861417	326	S>P		No	ClinGen TOPMed
rs374417427 CA6568933	327	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA605238285 rs1207415945	328	A>*		No	ClinGen gnomAD
CA6568932 rs138741584	330	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1235724751 CA384861368	333	E>A		No	ClinGen gnomAD
CA384861365 rs1365077413	333	E>D		No	ClinGen gnomAD
rs1280400131 CA384861372	333	E>K		No	ClinGen gnomAD
rs757204229 CA6568930	338	P>S		No	ClinGen ExAC gnomAD
rs1457435920 CA384861318	341	N>D		No	ClinGen TOPMed
rs1457435920 CA384861316	341	N>H		No	ClinGen TOPMed
CA6568929 rs550831260	341	N>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	341	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384861309 rs1433079941	342	G>D		No	ClinGen gnomAD
rs112923160 CA236288090	342	G>S		No	ClinGen TOPMed
rs188987098 CA236288067	343	P>L		No	ClinGen 1000Genomes
CA236288085 rs1056511629	343	P>S		No	ClinGen TOPMed gnomAD
rs150210505 CA6568926	344	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA236288041 rs897361854	344	A>V		No	ClinGen TOPMed
rs1172310328 CA384861298	345	Q>E		No	ClinGen gnomAD
rs1028688747 CA236288033	345	Q>R		No	ClinGen TOPMed
rs759882503 CA6568925	346	A>P		No	ClinGen ExAC TOPMed gnomAD
CA384861291 rs759882503	346	A>S		No	ClinGen ExAC TOPMed gnomAD
rs759882503 CA6568924	346	A>T		No	ClinGen ExAC TOPMed gnomAD
rs776910520 CA6568923	346	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6568922 rs766881298	347	Q>R		No	ClinGen ExAC gnomAD
CA384861276 rs1486444423	348	P>L		No	ClinGen gnomAD
rs1230439328 CA384861270	349	S>F		No	ClinGen TOPMed
CA6568921 rs369691754	350	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6568920 rs141002466	351	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592255085 CA384861260	351	T>I		No	ClinGen Ensembl
rs772176957 CA6568919	352	T>A		No	ClinGen ExAC gnomAD
rs3210837 CA384861249	353	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6568918 rs748235442	353	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768859102 CA6568916	354	R>K		No	ClinGen ExAC TOPMed gnomAD
rs781086442 CA6568914	355	A>V		No	ClinGen ExAC gnomAD
rs1473036951 CA384861212	359	E>*		No	ClinGen TOPMed gnomAD
CA384861206 rs1268340780	360	E>K		No	ClinGen TOPMed gnomAD
CA236287960 rs895685933	361	V>I		No	ClinGen TOPMed gnomAD
rs757294613 CA6568913	367	T>A		No	ClinGen ExAC gnomAD
CA6568912 rs746987882	368	P>A		No	ClinGen ExAC TOPMed gnomAD
CA236287934 rs376067729	368	P>L		No	ClinGen Ensembl
CA236287952 rs746987882	368	P>S		No	ClinGen ExAC TOPMed gnomAD
CA236287909 rs1001650363	369	S>L		No	ClinGen TOPMed
rs1394254714 CA384861153	369	S>T		No	ClinGen gnomAD
CA6568910 rs201696311	370	P>T		No	ClinGen 1000Genomes ExAC
CA6568909 rs752244584	371	G>D		No	ClinGen ExAC gnomAD
TCGA novel	372	G>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236287866 CA6568907 rs375136926	372	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs975836597 CA236287863	373	A>D		No	ClinGen Ensembl
rs921684243 CA236287865	373	A>T		No	ClinGen gnomAD
rs965763447 CA236287841	379	Q>R		No	ClinGen Ensembl
CA6568904 rs766689090	381	S>P		No	ClinGen ExAC gnomAD
CA6568903 rs760996900	382	S>L		No	ClinGen ExAC TOPMed gnomAD
CA6568902 rs750975779	383	S>T		No	ClinGen ExAC gnomAD
rs1312405207 CA384861071	384	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1231788909 CA384861064	385	T>A		No	ClinGen gnomAD
rs1337264094 CA384861060	385	T>I		No	ClinGen gnomAD
rs1334115172 CA384861036	389	L>H		No	ClinGen gnomAD
CA6568900 rs761805381	390	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774433785 CA6568899	390	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs140686836 CA6568898	391	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6568897 rs763228949	391	T>I		No	ClinGen ExAC TOPMed gnomAD
rs200496180 CA6568896	392	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146877980 CA6568895	392	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs146877980 CA236287704	392	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777927634 CA6568893	393	T>A		No	ClinGen ExAC gnomAD
rs1365076828 CA384861019	393	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6568891 rs563615819	394	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6568889 rs563615819	394	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6568890 rs563615819	394	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs117691477 CA6568888	395	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6568887 rs779658740	395	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	397	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384860996 rs1280868924	397	G>V		No	ClinGen gnomAD
rs756527960 CA6568886	400	Q>K		No	ClinGen ExAC gnomAD
rs1274179445 CA384860977	400	Q>L		No	ClinGen gnomAD
rs113931281 CA6568885	403	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6568883 rs762334085	404	R>K		No	ClinGen ExAC
CA6568884 rs762334085	404	R>T		No	ClinGen ExAC
CA6568881 rs764277315	406	S>A		No	ClinGen ExAC TOPMed gnomAD
CA384860941 rs764277315	406	S>P		No	ClinGen ExAC TOPMed gnomAD
CA384860937 rs1239815659	407	I>L		No	ClinGen TOPMed gnomAD
CA384860936 rs1239815659	407	I>V		No	ClinGen TOPMed gnomAD
rs1301092263 CA384860926	408	Q>P		No	ClinGen TOPMed gnomAD
CA384860912 rs1371544075	410	T>N		No	ClinGen gnomAD
rs375546781 CA6568880	410	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770140303 CA6568878	414	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6568877 rs760548195	414	P>R		No	ClinGen ExAC gnomAD
rs770140303 CA384860892	414	P>S		No	ClinGen ExAC TOPMed gnomAD
rs772997997 CA6568876	415	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1465047798 CA384860888	415	S>R		No	ClinGen gnomAD
rs772997997 CA384860885	415	S>T		No	ClinGen ExAC TOPMed gnomAD
CA384860863 rs1301773905	418	P>L		No	ClinGen TOPMed
CA384860866 rs1254062535	418	P>S		No	ClinGen gnomAD
CA384860848 rs1192891311	421	R>T		No	ClinGen gnomAD
rs1372935702 CA384860838	422	A>V		No	ClinGen TOPMed
rs200063227 CA6568874	424	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1302589931 CA384860821	425	S>I		No	ClinGen TOPMed
CA236287561 rs768854611	427	R>K		No	ClinGen gnomAD
rs778683696 CA6568873	428	P>A		No	ClinGen ExAC TOPMed gnomAD
CA384860804 rs1205807137	428	P>L		No	ClinGen gnomAD
rs778683696 CA384860805	428	P>S		No	ClinGen ExAC TOPMed gnomAD
rs779748495 CA6568870	432	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1592254442 CA384860762	435	S>P		No	ClinGen Ensembl
rs746253339 CA6568868	439	A>D		No	ClinGen ExAC gnomAD
CA384860726 rs1254450168	441	G>R		No	ClinGen TOPMed
CA236287495 rs897231450	443	G>V		No	ClinGen Ensembl
CA6568867 rs149679620	444	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1193335235 CA384860702	445	P>S		No	ClinGen TOPMed
rs757532141 CA6568866	446	T>A		No	ClinGen ExAC TOPMed gnomAD
rs752160766 CA6568865	446	T>I		No	ClinGen ExAC TOPMed gnomAD
CA236287464 rs866004628	448	P>S		No	ClinGen TOPMed
CA384860663 rs1373161685	451	S>F		No	ClinGen gnomAD
rs758622403 CA6568863	452	L>S		No	ClinGen ExAC gnomAD
CA6568862 rs752760966	453	G>R		No	ClinGen ExAC gnomAD
rs370739175 CA6568861	459	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6568860 rs759778513	461	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1592254338 CA384860605	461	T>P		No	ClinGen Ensembl
rs765439771 CA236287392	464	E>Q		No	ClinGen Ensembl
rs139520851 CA6568858	465	V>D		No	ClinGen ESP ExAC TOPMed
rs897200494 CA236287383	465	V>I		No	ClinGen TOPMed gnomAD
CA384860577 rs1255560567	466	S>C		No	ClinGen gnomAD
CA384860579 rs1485451728	466	S>P		No	ClinGen gnomAD
TCGA novel	466	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216225639 CA384860572	467	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1592254284 CA384860547	470	E>D		No	ClinGen Ensembl
CA236287382 rs944302833	472	P>A		No	ClinGen TOPMed gnomAD
rs774405060 CA6568856	475	P>R		No	ClinGen ExAC gnomAD
rs1306446570 CA384860512	476	V>L		No	ClinGen TOPMed
rs1270483707 CA384860496	478	T>I		No	ClinGen TOPMed gnomAD
rs1213536115 CA384860462	483	E>D		No	ClinGen TOPMed
rs891346299 CA236287369	483	E>G		No	ClinGen TOPMed
rs891346299 CA384860463	483	E>V		No	ClinGen TOPMed
TCGA novel	485	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748810468 CA6568854	487	I>S		No	ClinGen ExAC TOPMed gnomAD
rs932886675 CA236287366	487	I>V		No	ClinGen TOPMed
rs769469897 CA236287360	488	H>N		No	ClinGen ExAC TOPMed gnomAD
CA6568852 rs769469897	488	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	490	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414798001 CA384860416	490	Q>K		No	ClinGen gnomAD
rs745576102 CA6568851	490	Q>R		No	ClinGen ExAC gnomAD
rs1328848403 CA384860401	492	P>A		No	ClinGen gnomAD
CA6568848 rs747334966	496	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs145231160 CA6568847	498	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA384860358 rs145231160	498	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	499	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384860345 rs1461114957	500	T>I		No	ClinGen TOPMed
CA6568846 rs758913364	505	Q>H		No	ClinGen ExAC gnomAD
rs1345591735 CA384860316	505	Q>K		No	ClinGen TOPMed
CA384860262 rs1407401969	511	G>E		No	ClinGen gnomAD
rs1475653327 CA384860265	511	G>R		No	ClinGen gnomAD
rs1175531822 CA384860255	512	E>G		No	ClinGen gnomAD
CA384860251 rs1592250125	513	A>T		No	ClinGen Ensembl
CA384860228 rs1212853840	516	M>V		No	ClinGen gnomAD
CA6568829 rs139691872	517	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA236284610 rs371004701	521	K>N		No	ClinGen gnomAD
rs1213974652 CA384860162	524	K>R		No	ClinGen gnomAD
CA236284596 rs868622680	527	S>L		No	ClinGen Ensembl
CA6568827 VAR_028884 rs7954976	529	N>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA384860133 rs7954976	529	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6568826 rs748702925	530	S>A		No	ClinGen ExAC gnomAD
CA384860117 rs1376176341	531	S>L		No	ClinGen gnomAD
rs1400874684 CA384860112	532	E>D		No	ClinGen TOPMed
rs902232118 CA236284520	532	E>G		No	ClinGen TOPMed gnomAD
CA6568824 rs755141563	532	E>K		No	ClinGen ExAC TOPMed gnomAD
rs755141563 CA384860116	532	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1238912017 CA384860092	534	Q>*		No	ClinGen TOPMed
CA6568805 rs779958734	535	D>V		No	ClinGen ExAC TOPMed gnomAD
rs964758067 CA236282100	538	Q>K		No	ClinGen Ensembl
CA6568804 rs756187749	539	V>I		No	ClinGen ExAC gnomAD
rs1198993028 CA384860043	541	M>T		No	ClinGen TOPMed
CA6568803 rs750694548	541	M>V		No	ClinGen ExAC gnomAD
rs1259379106 CA384860030	543	P>S		No	ClinGen gnomAD
CA6568802 rs781380098	545	N>D		No	ClinGen ExAC gnomAD
CA384860012 rs1485970579	545	N>K		No	ClinGen gnomAD
CA6568801 rs758258873	546	N>S		No	ClinGen ExAC gnomAD
CA6568800 rs752425161	547	N>H		No	ClinGen ExAC gnomAD
rs1279878256 CA384860001	547	N>I		No	ClinGen TOPMed
CA384859996 rs1283005011	548	L>V		No	ClinGen gnomAD
CA6568799 rs765176485	549	T>S		No	ClinGen ExAC
rs1234435628 CA384859984	550	A>E		No	ClinGen gnomAD
CA236282067 rs996930387	550	A>P		No	ClinGen TOPMed
CA6568797 rs552960490	552	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6568796 rs765843050	553	P>T		No	ClinGen ExAC gnomAD
CA384859954 rs1341312649	555	E>Q		No	ClinGen gnomAD
rs866046394 CA236282032	556	E>Q		No	ClinGen Ensembl
CA384859741 rs1272937553	558	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6568773 rs774116771	559	T>A		No	ClinGen ExAC gnomAD
CA236279923 rs963568018	559	T>I		No	ClinGen TOPMed
CA384859731 rs1337190371	560	S>T		No	ClinGen gnomAD
CA236279914 rs868092809	561	E>K		No	ClinGen Ensembl
CA6568772 rs764416524	562	N>K		No	ClinGen ExAC gnomAD
TCGA novel	566	L>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs548790714 CA6568770	566	L>W		No	ClinGen 1000Genomes ExAC

No associated diseases with Q9UBW5

3 regional properties for Q9UBW5

Type	Name	Position	InterPro Accession
domain	SH3 domain	515 - 588	IPR001452
domain	BAR domain	17 - 276	IPR004148
domain	Amphiphysin 2, SH3 domain	516 - 587	IPR035471

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell projection, podosome membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm, cell cortex Cell projection, phagocytic cup	Associates with membranes enriched in phosphoinositides Detected in the actin-rich cell cortex at the leading edge of migrating cells Detected at podosomes, at an actin-rich ring-like structure
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
ficolin-1-rich granule lumen	Any membrane-enclosed lumen that is part of a ficolin-1-rich granule.
phagocytic cup	An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
podosome	An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm.
secretory granule lumen	The volume enclosed by the membrane of a secretory granule.

1 GO annotations of molecular function

Name	Definition
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.

4 GO annotations of biological process

Name	Definition
cell chemotaxis	The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
phagocytosis, engulfment	The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis.
plasma membrane tubulation	A membrane tubulation process occurring in a plasma membrane.
podosome assembly	The aggregation, arrangement and bonding together of a set of components to form a podosome, an actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P50478	AMPH	Amphiphysin	Gallus gallus (Chicken)	PR
P49418	AMPH	Amphiphysin	Homo sapiens (Human)	PR
O00499	BIN1	Myc box-dependent-interacting protein 1	Homo sapiens (Human)	PR
O08539	Bin1	Myc box-dependent-interacting protein 1	Mus musculus (Mouse)	PR
Q7TQF7	Amph	Amphiphysin	Mus musculus (Mouse)	PR
O08838	Amph	Amphiphysin	Rattus norvegicus (Rat)	PR
O08839	Bin1	Myc box-dependent-interacting protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAEGKAGGAA	GLFAKQVQKK	FSRAQEKVLQ	KLGKAVETKD	ERFEQSASNF	YQQQAEGHKL
70	80	90	100	110	120
YKDLKNFLSA	VKVMHESSKR	VSETLQEIYS	SEWDGHEELK	AIVWNNDLLW	EDYEEKLADQ
130	140	150	160	170	180
AVRTMEIYVA	QFSEIKERIA	KRGRKLVDYD	SARHHLEAVQ	NAKKKDEAKT	AKAEEEFNKA
190	200	210	220	230	240
QTVFEDLNQE	LLEELPILYN	SRIGCYVTIF	QNISNLRDVF	YREMSKLNHN	LYEVMSKLEK
250	260	270	280	290	300
QHSNKVFVVK	GLSSSSRRSL	VISPPVRTAT	VSSPLTSPTS	PSTLSLKSES	ESVSATEDLA
310	320	330	340	350	360
PDAAQGEDNS	EIKELLEEEE	IEKEGSEASS	SEEDEPLPAC	NGPAQAQPSP	TTERAKSQEE
370	380	390	400	410	420
VLPSSTTPSP	GGALSPSGQP	SSSATEVVLR	TRTASEGSEQ	PKKRASIQRT	SAPPSRPPPP
430	440	450	460	470	480
RATASPRPSS	GNIPSSPTAS	GGGSPTSPRA	SLGTGTASPR	TSLEVSPNPE	PPEKPVRTPE
490	500	510	520	530	540
AKENENIHNQ	NPEELCTSPT	LMTSQVASEP	GEAKKMEDKE	KDNKLISANS	SEGQDQLQVS
550	560
MVPENNNLTA	PEPQEEVSTS	ENPQL