AiPD: Autoinhibited Protein Database

Q9UK22

Gene name	FBXO2 (FBX2)
Protein name	F-box only protein 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26232
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-83 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-83 (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 Q9UK22

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UK22-F1	Predicted				AlphaFoldDB

339 variants for Q9UK22

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel rs1266079970 CA338416563	3	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA17987477 rs898255607	4	D>E		No	ClinGen TOPMed gnomAD
CA338416551 rs1186530457	4	D>G		No	ClinGen gnomAD
rs1207694455 CA338416538	5	G>A		No	ClinGen gnomAD
CA338416543 rs1245883040	5	G>S		No	ClinGen TOPMed gnomAD
rs1462076962 CA338416533	6	D>Y		No	ClinGen gnomAD
CA338416047 rs1244305052	8	E>G		No	ClinGen gnomAD
CA338416040 rs1339691325	9	S>N		No	ClinGen TOPMed gnomAD
CA338416039 rs1339691325	9	S>T		No	ClinGen TOPMed gnomAD
CA338416031 rs1570220488	10	V>G		No	ClinGen Ensembl
CA592975 rs778861115	10	V>L		No	ClinGen ExAC gnomAD
CA338416035 rs778861115	10	V>M		No	ClinGen ExAC gnomAD
rs1570220479 CA338416027	11	G>A		No	ClinGen Ensembl
rs754920696 CA592974	11	G>S		No	ClinGen ExAC gnomAD
CA592973 rs560693746	12	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA17983838 rs865995820	14	E>*		No	ClinGen gnomAD
CA338416009 rs1349228833	14	E>G		No	ClinGen TOPMed
CA338416012 rs865995820	14	E>K		No	ClinGen gnomAD
rs1288268212 CA338416001	15	E>G		No	ClinGen TOPMed
CA338416005 rs1392236039	15	E>K		No	ClinGen gnomAD
CA338415996 rs1405690687	16	A>P		No	ClinGen TOPMed
rs1405690687 CA338415997	16	A>T		No	ClinGen TOPMed
rs868820610 CA17983827	17	S>I		No	ClinGen Ensembl
CA592971 rs367609409	17	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA592969 rs767723833	18	P>L		No	ClinGen ExAC TOPMed gnomAD
CA338415982 rs767723833	18	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs767723833 CA592970	18	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1471896688 CA338415976	19	E>V		No	ClinGen gnomAD
CA338415967 rs1200763549	20	E>D		No	ClinGen gnomAD
CA592967 rs774554868	20	E>K		No	ClinGen ExAC TOPMed gnomAD
rs992599787 CA17983798	21	Q>*		No	ClinGen gnomAD
rs1265318507 CA338415960	21	Q>H		No	ClinGen gnomAD
TCGA novel	22	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1045681810 CA17983796	23	E>K		No	ClinGen TOPMed gnomAD
CA338415946 rs1351603419	24	E>K		No	ClinGen gnomAD
CA338415934 rs1261099171	25	A>G		No	ClinGen TOPMed gnomAD
CA592966 rs764571902	26	S>G		No	ClinGen ExAC gnomAD
rs1481339208 CA338415930	26	S>N		No	ClinGen TOPMed
CA338415927 rs1266191546	26	S>R		No	ClinGen TOPMed
rs763514760 CA592965	27	A>V		No	ClinGen ExAC TOPMed gnomAD
rs774504936 CA17983756	28	E>K		No	ClinGen Ensembl
rs1287707052 CA338415905	30	E>K		No	ClinGen gnomAD
rs930483787 CA17983746	32	P>L		No	ClinGen TOPMed gnomAD
CA338415889 rs930483787	32	P>Q		No	ClinGen TOPMed gnomAD
rs1332351100 CA338415890	32	P>S		No	ClinGen gnomAD
CA338415886 rs919120976	33	E>*		No	ClinGen TOPMed gnomAD
rs1160919295 CA338415882	33	E>D		No	ClinGen gnomAD
CA17983733 rs971891922	33	E>G		No	ClinGen TOPMed
CA17983743 rs919120976	33	E>K		No	ClinGen TOPMed gnomAD
rs965751021 CA17983693	34	D>G		No	ClinGen TOPMed
rs775726014 CA592964	34	D>Y		No	ClinGen ExAC gnomAD
CA338415870 rs985768341	35	Q>H		No	ClinGen TOPMed gnomAD
CA17983688 rs778450432	35	Q>K		No	ClinGen TOPMed gnomAD
CA338415871 rs1376012877	35	Q>P		No	ClinGen gnomAD
rs1447650869 CA338415866	36	Q>*		No	ClinGen TOPMed gnomAD
rs1447650869 CA338415867	36	Q>E		No	ClinGen TOPMed gnomAD
rs572164329 CA338415860	37	E>K		No	ClinGen 1000Genomes TOPMed
CA17983673 rs572164329	37	E>Q		No	ClinGen 1000Genomes TOPMed
CA338415853 rs1264201492	38	E>K		No	ClinGen gnomAD
rs770139868 CA592961	39	E>A		No	ClinGen ExAC TOPMed gnomAD
CA338415839 rs1423596542	39	E>D		No	ClinGen TOPMed gnomAD
CA338415845 rs1207037739	39	E>K		No	ClinGen gnomAD
rs953184967 CA338415835	40	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA17983671 rs953184967	40	A>V		No	ClinGen TOPMed
rs1224069364 CA338415828	41	A>V		No	ClinGen gnomAD
rs1272574422 CA338415821	42	A>V		No	ClinGen gnomAD
CA592957 rs771682251	43	A>T		No	ClinGen ExAC
CA592955 rs747705734	45	A>E		No	ClinGen ExAC gnomAD
rs112380988 CA17983614	45	A>P		No	ClinGen gnomAD
rs112380988 CA17983610	45	A>T		No	ClinGen gnomAD
rs1570220144 CA338415788	48	D>G		No	ClinGen Ensembl
rs1416661788 CA338415790	48	D>H		No	ClinGen TOPMed gnomAD
CA338415791 rs1416661788	48	D>N		No	ClinGen TOPMed gnomAD
rs560092157 CA338415783	49	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338415782 rs1385450624	49	E>A		No	ClinGen TOPMed
rs1184639052 CA338415779	49	E>D		No	ClinGen TOPMed
CA338415784 rs560092157	49	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560092157 CA592949	49	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1475813609 CA338415770	51	P>S		No	ClinGen TOPMed gnomAD
rs1032966670 CA17983509	52	E>K		No	ClinGen TOPMed gnomAD
CA17983504 rs749182057	53	P>A		No	ClinGen ExAC TOPMed gnomAD
CA338415756 rs1449042263	53	P>L		No	ClinGen gnomAD
rs749182057 CA592948	53	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1253170309 CA338415749	55	L>V		No	ClinGen TOPMed
CA592945 rs779723756	57	R>C		No	ClinGen ExAC
CA338415733 rs1490231869	58	V>L		No	ClinGen TOPMed gnomAD
rs902482730 CA17983465	59	L>M		No	ClinGen Ensembl
CA17983457 rs1042469458	59	L>Q		No	ClinGen Ensembl
rs1339528846 CA338415723	60	A>D		No	ClinGen gnomAD
CA338415725 rs1199783128	60	A>T		No	ClinGen gnomAD
rs755885110 CA338415719	61	A>S		No	ClinGen ExAC TOPMed gnomAD
rs755885110 CA592944	61	A>T		No	ClinGen ExAC TOPMed gnomAD
CA17983422 rs1045819045	61	A>V		No	ClinGen TOPMed gnomAD
rs1315305758 CA338415706	63	P>L		No	ClinGen gnomAD
CA338415708 rs1315305758	63	P>Q		No	ClinGen gnomAD
rs1217627410 CA592940	65	A>S		No	ClinGen gnomAD
rs1334134085 CA338415691	66	E>A		No	ClinGen gnomAD
rs1375384189 CA338415694	66	E>Q		No	ClinGen TOPMed
CA338415683 rs1372515588	67	L>P		No	ClinGen gnomAD
CA592938 rs751757860	68	V>A		No	ClinGen ExAC gnomAD
CA17983417 rs948734068	69	Q>H		No	ClinGen TOPMed
CA338415669 rs1386166362	70	A>T		No	ClinGen gnomAD
rs1365885093 CA338415659	71	C>S		No	ClinGen TOPMed
CA338415653 rs1183800087	72	R>C		No	ClinGen gnomAD
rs764170866 CA17983403	72	R>H		No	ClinGen ExAC TOPMed gnomAD
rs764170866 CA592937	72	R>L		No	ClinGen ExAC TOPMed gnomAD
CA338415652 rs764170866	72	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1557653820 CA521454569	74	V>*		No	ClinGen Ensembl
CA338415646 rs1186787770	74	V>M		No	ClinGen TOPMed gnomAD
rs765552130 CA592934	75	C>S		No	ClinGen ExAC
CA592935 rs765552130	75	C>Y		No	ClinGen ExAC
rs1483313072 CA338415627	77	R>C		No	ClinGen gnomAD
CA338415626 rs1276162923	77	R>H		No	ClinGen TOPMed gnomAD
CA338415617 rs1420255000	78	W>*		No	ClinGen TOPMed
CA592933 rs759934386	79	K>R		No	ClinGen ExAC gnomAD
rs776957631 CA592932	80	E>G		No	ClinGen ExAC gnomAD
rs1229649233 CA338415593	82	V>M		No	ClinGen gnomAD
CA338415579 rs1377479499	84	G>C		No	ClinGen gnomAD
CA592931 rs771769909	84	G>D		No	ClinGen ExAC gnomAD
CA338415571 rs1443585311	85	A>V		No	ClinGen gnomAD
CA592930 rs371498795	86	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA338415566 rs371498795	86	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA338415568 rs1352794272	86	P>S		No	ClinGen gnomAD
rs1292513220 CA338415554	88	W>*		No	ClinGen TOPMed
CA592928 rs768151906	89	L>P		No	ClinGen ExAC TOPMed gnomAD
rs749203113 CA592927	90	L>V		No	ClinGen ExAC gnomAD
CA17983302 rs1037991145	92	C>*		No	ClinGen Ensembl
CA17983309 rs749552045	92	C>R		No	ClinGen TOPMed gnomAD
rs749552045 CA17983311	92	C>S		No	ClinGen TOPMed gnomAD
rs1162364329 CA338415527	93	Q>*		No	ClinGen gnomAD
rs941720896 CA17983300	94	Q>*		No	ClinGen gnomAD
CA17983278 rs907516714	94	Q>L		No	ClinGen Ensembl
rs745719600 CA592924	96	G>R		No	ClinGen ExAC TOPMed gnomAD
CA338415502 rs1482467679	97	L>M		No	ClinGen gnomAD
rs757560155 CA592922	98	V>G		No	ClinGen ExAC gnomAD
rs368443407 CA592923	98	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338415489 rs1319495920	99	P>L		No	ClinGen gnomAD
rs145470928 CA592920	100	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145470928 CA338415487	100	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765823868 CA592917	102	G>D		No	ClinGen ExAC gnomAD
CA592918 rs147238507	102	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA592916 rs760022003	103	V>M		No	ClinGen ExAC gnomAD
CA592915 rs754265732	104	E>K		No	ClinGen ExAC gnomAD
rs766662663 CA592914	105	E>G		No	ClinGen ExAC TOPMed gnomAD
rs746929474 CA592912	107	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779919785 CA592911	107	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1156900473 CA338415435	108	D>G		No	ClinGen TOPMed gnomAD
rs1413863884 CA338415439	108	D>N		No	ClinGen gnomAD
CA338415415 rs1472198379	110	W>C		No	ClinGen gnomAD
CA338415412 rs1425280521	111	Q>*		No	ClinGen TOPMed gnomAD
rs774852820 CA592909	112	Q>E		No	ClinGen ExAC gnomAD
rs1001500822 CA17983149	112	Q>R		No	ClinGen Ensembl
rs914853146 CA17983137	113	F>L		No	ClinGen TOPMed
CA338415389 rs1487214932	114	Y>C		No	ClinGen TOPMed gnomAD
CA592908 rs769922523	116	L>M		No	ClinGen ExAC
rs745738075 CA592907	116	L>P		No	ClinGen ExAC TOPMed gnomAD
CA338415368 rs1208937620	117	S>R		No	ClinGen gnomAD
rs9614 CA338415362	118	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338415361 rs1266581377	118	K>N		No	ClinGen TOPMed gnomAD
CA592906 rs9614 VAR_049036	118	K>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA592905 rs770802436	119	R>W		No	ClinGen ExAC
rs1313239191 CA338415352	120	R>H		No	ClinGen gnomAD
CA338415350 rs1313239191	120	R>L		No	ClinGen gnomAD
rs11545590 CA592903	121	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs758528085 CA592902	121	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758528085 CA338415347	121	R>L		No	ClinGen ExAC TOPMed gnomAD
rs11545590 CA17983089	121	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383496930 CA338415344	122	N>D		No	ClinGen TOPMed
rs1271033603 CA338415328	123	L>F		No	ClinGen TOPMed gnomAD
rs752878385 CA592901	125	R>C		No	ClinGen ExAC TOPMed gnomAD
CA17983050 rs1031905643	125	R>H		No	ClinGen TOPMed
CA338415283 rs1390596456	127	P>R		No	ClinGen gnomAD
CA592900 rs778957372	128	C>F		No	ClinGen ExAC gnomAD
CA592899 rs755479519	129	G>E		No	ClinGen ExAC gnomAD
rs998962757 CA17983044	130	E>K		No	ClinGen TOPMed
rs914162763 CA17982585	132	D>N		No	ClinGen TOPMed
rs914162763 CA17982591	132	D>Y		No	ClinGen TOPMed
CA592880 rs749821736	133	L>S		No	ClinGen ExAC gnomAD
rs756554003 CA592878	135	G>S		No	ClinGen ExAC gnomAD
CA17982568 rs148452791	136	W>*		No	ClinGen ESP ExAC gnomAD
CA592877 rs148452791	136	W>C		No	ClinGen ESP ExAC gnomAD
rs1411178846 CA338415113	137	C>W		No	ClinGen TOPMed gnomAD
rs144552824 CA592875	139	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs752246282 CA592874	140	E>V		No	ClinGen ExAC
rs764871649 CA592873	142	G>D		No	ClinGen ExAC gnomAD
TCGA novel	142	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338415052 rs1433558466	143	G>R		No	ClinGen TOPMed gnomAD
rs766484047 CA592870	146	W>R		No	ClinGen ExAC gnomAD
rs1570219236 CA338414985	148	V>G		No	ClinGen Ensembl
TCGA novel	149	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338414971 rs1210988247	149	E>G		No	ClinGen TOPMed
rs1253245093 CA338414962	150	E>*		No	ClinGen gnomAD
CA338414956 rs1557653511	150	E>V		No	ClinGen Ensembl
CA338414948 rs1482135040	151	L>V		No	ClinGen TOPMed gnomAD
CA338414906 rs61731861	155	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA592867 rs61731861	155	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs555482684 CA592865	156	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338414882 rs1570219169	157	V>G		No	ClinGen Ensembl
CA17982442 rs151288621	159	F>S		No	ClinGen ESP TOPMed gnomAD
CA17982425 rs751678150 CA338414843	161	H>Q		No	ClinGen gnomAD
CA338414835 rs1260789261	162	D>G		No	ClinGen TOPMed gnomAD
rs780091512 CA592862	162	D>N		No	ClinGen ExAC TOPMed gnomAD
rs780091512 CA592863	162	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1230112496 CA338414824	163	E>*		No	ClinGen gnomAD
CA592861 rs756652155	164	S>G		No	ClinGen ExAC gnomAD
CA338414810 rs1327538831	164	S>N		No	ClinGen gnomAD
CA338414797 rs1291420728	165	V>A		No	ClinGen gnomAD
rs368947235 CA592859	165	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA592860 rs368947235	165	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA592858 rs757525914	166	K>R		No	ClinGen ExAC gnomAD
CA338414761 rs1391595863	168	Y>C		No	ClinGen TOPMed
CA338414740 rs1413116299	169	F>L		No	ClinGen TOPMed gnomAD
CA338414738 rs778758319	170	A>P		No	ClinGen ExAC TOPMed gnomAD
rs778758319 CA592856	170	A>S		No	ClinGen ExAC TOPMed gnomAD
rs778758319 CA592857	170	A>T		No	ClinGen ExAC TOPMed gnomAD
rs997456420 CA17982265	171	S>F		No	ClinGen gnomAD
CA592854 rs753467420	172	S>P		No	ClinGen ExAC gnomAD
rs1453398374 CA338414711	173	F>L		No	ClinGen gnomAD
CA338414696 rs1209434284	174	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA338414651 rs1299354409	175	W>G		No	ClinGen gnomAD
rs373751221 CA592827	176	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs369589187 CA592826 COSM1206808	177	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA592825 rs759584337	177	R>H		No	ClinGen ExAC TOPMed gnomAD
CA338414635 rs759584337	177	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771408901 CA592823	183	D>E		No	ClinGen ExAC gnomAD
rs377543023 CA592824	183	D>N		No	ClinGen ESP ExAC gnomAD
rs114834790 CA592821	187	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA592820 rs772514172	192	E>K		No	ClinGen ExAC TOPMed gnomAD
rs373387055 CA592819	196	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs755765419 CA592818	197	T>I		No	ClinGen ExAC gnomAD
rs755765419 CA592817	197	T>S		No	ClinGen ExAC gnomAD
CA17981937 rs35333217	198	Q>H		No	ClinGen gnomAD
CA338414429 rs1253464709	199	P>A		No	ClinGen gnomAD
rs745424628 CA592816	199	P>L		No	ClinGen ExAC
rs780746164 CA592815	200	A>T		No	ClinGen ExAC gnomAD
CA338414406 rs1276395660	201	I>T		No	ClinGen TOPMed gnomAD
rs757187782 CA592814	201	I>V		No	ClinGen ExAC TOPMed gnomAD
CA592812 rs763911794	202	V>M		No	ClinGen ExAC gnomAD
CA17981925 rs75074481	203	V>L		No	ClinGen Ensembl
CA338414371 rs1285095683	204	K>N		No	ClinGen gnomAD
rs1331751466 CA338414290	206	W>*		No	ClinGen TOPMed gnomAD
CA592811 rs758234107	206	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1331751466 CA338414292	206	W>C		No	ClinGen TOPMed gnomAD
rs758234107 CA338414348	206	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1286996389 CA338414286	207	Y>H		No	ClinGen gnomAD
CA338414268 rs907948804	208	S>*		No	ClinGen TOPMed gnomAD
CA17981223 rs907948804	208	S>L		No	ClinGen TOPMed gnomAD
CA592787 rs573282990	210	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA592786 rs573282990	210	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367827521 CA338414252	210	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA592785 rs367827521	210	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA592784 rs754041183	211	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	211	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390822216 CA338414218	213	A>D		No	ClinGen TOPMed gnomAD
rs374850495 CA338414222	213	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA592782 rs374850495	213	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156814658 CA338414187	216	L>I		No	ClinGen gnomAD
rs768192437 CA592780	217	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1369975816 CA338414158	218	E>G		No	ClinGen TOPMed
CA592779 rs762374502	218	E>K		No	ClinGen ExAC gnomAD
rs371864661 CA17981130	220	T>I		No	ClinGen TOPMed
CA338414128 rs1252764940	221	V>I		No	ClinGen gnomAD
TCGA novel	222	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA592777 rs769004518	222	K>R		No	ClinGen ExAC gnomAD
CA17981114 rs1003676942	223	L>P		No	ClinGen TOPMed gnomAD
rs200671071 CA17981101	226	E>D		No	ClinGen 1000Genomes gnomAD
CA592775 rs770552000	226	E>K		No	ClinGen ExAC TOPMed gnomAD
CA592774 rs770552000	226	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1280767233 CA338414067	227	H>P		No	ClinGen gnomAD
rs746580239 CA338414060	227	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1370619704 CA338414056 COSM1747659	228	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1429883903 CA338413992	233	E>K		No	ClinGen gnomAD
CA592768 rs754760505	235	S>G		No	ClinGen ExAC gnomAD
rs1432319136 CA338413961	235	S>N		No	ClinGen gnomAD
CA338413946 rs753544299	236	S>N		No	ClinGen ExAC TOPMed gnomAD
CA338413942 rs1191084921	236	S>R		No	ClinGen TOPMed
rs753544299 CA592767	236	S>T		No	ClinGen ExAC TOPMed gnomAD
CA338413923 rs1260037951	238	Q>R		No	ClinGen TOPMed gnomAD
CA17981033 rs868202503	240	A>T		No	ClinGen Ensembl
CA338413898 rs1186469070	240	A>V		No	ClinGen gnomAD
CA338413893 rs1267085075	241	V>M		No	ClinGen Ensembl
CA338413868 rs1483826792	243	Q>R		No	ClinGen gnomAD
CA592765 rs756387325	244	D>E		No	ClinGen ExAC TOPMed gnomAD
rs780471551 CA592766	244	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	245	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA592764 rs377196141	246	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230839849 CA338413817	247	G>S		No	ClinGen TOPMed gnomAD
CA17981019 rs894895922	248	G>E		No	ClinGen TOPMed gnomAD
CA592763 rs767635810	248	G>R		No	ClinGen ExAC gnomAD
rs1054770374 CA17981009	249	G>C		No	ClinGen TOPMed gnomAD
CA338413791 rs1314628812	249	G>D		No	ClinGen gnomAD
CA338413796 rs1054770374	249	G>S		No	ClinGen TOPMed gnomAD
rs1380483045 CA338413760	251	M>I		No	ClinGen TOPMed
rs762236926 CA592762	251	M>L		No	ClinGen ExAC gnomAD
rs910115270 CA17980997	252	E>Q		No	ClinGen Ensembl
rs139778338 CA592727	253	I>M		No	ClinGen ESP ExAC
CA592728 rs781528684	253	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1403449284 CA338413442	254	S>F		No	ClinGen gnomAD
rs1303065776 CA338413396	258	T>S		No	ClinGen TOPMed
rs777652460 CA592725	259	D>A		No	ClinGen ExAC gnomAD
rs1160779402 CA338413385	259	D>Y		No	ClinGen TOPMed gnomAD
rs758961748 CA592724	261	G>R		No	ClinGen ExAC TOPMed gnomAD
CA338413339 rs1381706052	262	P>S		No	ClinGen TOPMed
CA338413317 rs1254663025	263	G>D		No	ClinGen TOPMed gnomAD
rs900563766 CA17980352	264	V>F		No	ClinGen TOPMed gnomAD
CA338413288 rs1206779977	265	R>C		No	ClinGen gnomAD
rs372591058 CA592718	265	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs372591058 CA592719	265	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA592717 rs773916207	266	F>I		No	ClinGen ExAC
CA592716 rs763453911	266	F>L		No	ClinGen ExAC TOPMed gnomAD
CA338413260 rs1191924604	267	V>L		No	ClinGen TOPMed
rs137861693 CA592714	268	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs137861693 CA592715	268	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA338413214 rs1300794516	269	F>L		No	ClinGen TOPMed gnomAD
rs1440697514 CA338413205	270	E>K		No	ClinGen TOPMed gnomAD
rs1440697514 CA338413207	270	E>Q		No	ClinGen TOPMed gnomAD
COSM1185315 rs745717474 CA592711	271	H>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs769834682 CA592712	271	H>R		No	ClinGen ExAC TOPMed gnomAD
COSM1294777 rs149264736 CA592709	272	G>A	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA592710 rs776286689	272	G>R		No	ClinGen ExAC gnomAD
rs776286689 CA338413166	272	G>W		No	ClinGen ExAC gnomAD
rs758435106 CA592706	273	G>W		No	ClinGen ExAC gnomAD
CA338413123 rs1342153820	274	Q>R		No	ClinGen TOPMed
CA338413110 rs1268945483	275	D>N		No	ClinGen TOPMed
CA17980201 rs987990452	280	K>E		No	ClinGen Ensembl
rs1233062284 CA338412904	284	G>A		No	ClinGen gnomAD
rs1277801750 CA338412915 COSM1252262	284	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA338412892 rs1343348319	285	A>D		No	ClinGen gnomAD
CA338412879 rs1557652913	286	R>P		No	ClinGen Ensembl
CA592699 rs763877988	286	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1570217487 CA338412868	287	V>G		No	ClinGen Ensembl
CA592698 rs751122943	287	V>L		No	ClinGen ExAC gnomAD
rs1034675461 CA17980168	290	S>T		No	ClinGen Ensembl
CA592697 rs763688763	292	V>L		No	ClinGen ExAC TOPMed gnomAD
CA338412775 rs1416743588	293	W>*		No	ClinGen gnomAD
CA338412740 rs1411439478	296	P>A		No	ClinGen TOPMed
rs762602817 CA592696	296	P>H		No	ClinGen ExAC TOPMed gnomAD
CA338412739 rs1411439478	296	P>S		No	ClinGen TOPMed
CA338412723 rs1312519353	297	P>W		No	ClinGen gnomAD

No associated diseases with Q9UK22

2 regional properties for Q9UK22

Type	Name	Position	InterPro Accession
domain	F-box domain	44 - 91	IPR001810
domain	F-box associated (FBA) domain	110 - 296	IPR007397

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Microsome membrane ; Peripheral membrane protein ; Cytoplasmic side
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
SCF ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1).

3 GO annotations of molecular function

Name	Definition
amyloid-beta binding	Binding to an amyloid-beta peptide/protein.
carbohydrate binding	Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates.
ubiquitin-protein transferase activity	Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages.

7 GO annotations of biological process

Name	Definition
glycoprotein catabolic process	The chemical reactions and pathways resulting in the breakdown of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.
protein modification process	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
regulation of protein ubiquitination	Any process that modulates the frequency, rate or extent of the addition of ubiquitin groups to a protein.
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome.
ubiquitin-dependent ERAD pathway	The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q17QK6	FBXO2	F-box only protein 2	Bos taurus (Bovine)	PR
Q8NI29	FBXO27	F-box only protein 27	Homo sapiens (Human)	PR
Q6DIA9	Fbxo27	F-box only protein 27	Mus musculus (Mouse)	PR
Q80UW2	Fbxo2	F-box only protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDGDGDPESV	GQPEEASPEE	QPEEASAEEE	RPEDQQEEEA	AAAAAYLDEL	PEPLLLRVLA
70	80	90	100	110	120
ALPAAELVQA	CRLVCLRWKE	LVDGAPLWLL	KCQQEGLVPE	GGVEEERDHW	QQFYFLSKRR
130	140	150	160	170	180
RNLLRNPCGE	EDLEGWCDVE	HGGDGWRVEE	LPGDSGVEFT	HDESVKKYFA	SSFEWCRKAQ
190	200	210	220	230	240
VIDLQAEGYW	EELLDTTQPA	IVVKDWYSGR	SDAGCLYELT	VKLLSEHENV	LAEFSSGQVA
250	260	270	280	290
VPQDSDGGGW	MEISHTFTDY	GPGVRFVRFE	HGGQDSVYWK	GWFGARVTNS	SVWVEP