AiPD: Autoinhibited Protein Database

Q9Y2G0

Gene name	EFR3B
Protein name	Protein EFR3 homolog B
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:22979
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

177-258 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

177-258 (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 Q9Y2G0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y2G0-F1	Predicted				AlphaFoldDB

463 variants for Q9Y2G0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA346248832 rs996796285	2	Y>*		No	ClinGen TOPMed
CA44269353 rs764371087	3	G>A		No	ClinGen gnomAD
rs764371087 CA346251218	3	G>D		No	ClinGen gnomAD
CA44269354 rs146532724	4	V>M		No	ClinGen 1000Genomes
CA346251232 rs1200175209	5	C>R		No	ClinGen TOPMed
rs1573195806 CA346251275	7	C>W		No	ClinGen Ensembl
TCGA novel	8	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA44269355 rs919864845	10	A>V		No	ClinGen Ensembl
rs1049878572 CA44269357	12	R>C		No	ClinGen TOPMed gnomAD
CA346251318 rs1185560611	12	R>H		No	ClinGen gnomAD
CA346251518 rs1419823517	27	P>T		No	ClinGen gnomAD
rs1170316474 CA346251530	28	E>K		No	ClinGen gnomAD
CA1554905 rs756630542	28	E>V		No	ClinGen ExAC TOPMed gnomAD
CA346251818 rs1432521293	29	D>G		No	ClinGen TOPMed gnomAD
CA346251816 rs1324345112	29	D>Y		No	ClinGen gnomAD
CA346251836 rs1573197344	32	V>G		No	ClinGen Ensembl
rs1270241074 CA346251852	34	T>I		No	ClinGen gnomAD
rs1479495356 CA346251855	35	N>D		No	ClinGen TOPMed
rs1282399606 CA346251898	41	F>L		No	ClinGen gnomAD
rs370067502 CA1554919	42	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1215668889 CA346251936	47	P>A		No	ClinGen gnomAD
rs1282359152 CA346251943	48	E>Q		No	ClinGen gnomAD
CA346251970 rs1448931169	51	D>E		No	ClinGen gnomAD
rs772911555 CA346251992	55	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1554920 rs772911555	55	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1195980134 CA346252005	57	L>V		No	ClinGen gnomAD
TCGA novel	58	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1554921 rs371551570	59	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419435412 CA346252037	62	I>V		No	ClinGen gnomAD
rs1157170656 CA346252043	63	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1387648032 CA346252046	63	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA346252057 rs1318631824	65	V>M		No	ClinGen gnomAD
rs897581859 CA44269569	66	G>S		No	ClinGen TOPMed gnomAD
rs1274803081 CA346252070	67	R>C		No	ClinGen TOPMed
rs993618185 CA44269570	67	R>H		No	ClinGen Ensembl
COSM1019211 rs1228747570 CA346252082	69	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1027397016 CA44269571	69	R>Q		No	ClinGen Ensembl
CA346252086 rs1195212535	70	Y>H		No	ClinGen gnomAD
rs1482081385 CA346248777	73	V>M		No	ClinGen TOPMed
rs1327300057 CA346248807	77	M>L		No	ClinGen gnomAD
rs1573204827 CA346248863	81	D>A		No	ClinGen Ensembl
CA44270706 rs1002552775	84	L>P		No	ClinGen Ensembl
CA346248886 rs1453169639	85	M>V		No	ClinGen TOPMed
rs1265277766 CA346248896	86	A>P		No	ClinGen Ensembl
rs1283768287 CA346248970	96	V>M		No	ClinGen gnomAD
rs1332931194 CA346249005	100	L>P		No	ClinGen gnomAD
CA346249001 rs1289781753	100	L>V		No	ClinGen TOPMed
rs1273887421 CA346249029	104	A>T		No	ClinGen TOPMed gnomAD
rs1437794161 CA346249053	108	E>K		No	ClinGen TOPMed
rs550514556 CA44270711	113	N>D		No	ClinGen 1000Genomes gnomAD
CA346249122 rs1438707872	118	G>S		No	ClinGen TOPMed gnomAD
CA1554930 rs569003259	120	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1573204913 CA346249142	121	S>A		No	ClinGen Ensembl
CA44270712 rs908293677	121	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA346249174 rs1173000911	123	V>L		No	ClinGen gnomAD
CA346249195 rs1416397917	126	A>T		No	ClinGen gnomAD
CA346249205 rs1441704369	127	N>S		No	ClinGen TOPMed
rs1313668199 CA346249217	129	E>K		No	ClinGen gnomAD
rs1034907838 CA44272610	129	E>V		No	ClinGen TOPMed
rs373101048 CA346249276	137	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs373101048 CA1554943	137	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA346249275 rs1385425874	137	R>W		No	ClinGen TOPMed
rs1437454301 CA346249314	142	F>S		No	ClinGen TOPMed
rs1379278316 CA346249327	144	S>Y		No	ClinGen TOPMed
COSM1565624 rs757728893 CA1554945	145	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1278827940 CA346249336	146	F>V		No	ClinGen gnomAD
TCGA novel	147	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441740153 CA346249350	148	E>K		No	ClinGen gnomAD
CA346249378 rs1573217922	151	H>P		No	ClinGen Ensembl
rs1255509902 CA346249375	151	H>Y		No	ClinGen TOPMed
rs765652835 CA346249387	152	S>L		No	ClinGen ExAC TOPMed gnomAD
rs765652835 CA1554946	152	S>W		No	ClinGen ExAC TOPMed gnomAD
rs750992199 CA1554947	153	S>N		No	ClinGen ExAC gnomAD
CA44272611 rs1027158545	154	H>R		No	ClinGen TOPMed gnomAD
rs758728073 CA1554948	155	D>N		No	ClinGen ExAC TOPMed gnomAD
CA44272612 rs761234847	156	D>H		No	ClinGen TOPMed
rs746612989 CA1554950	159	I>V		No	ClinGen ExAC gnomAD
rs1428610756 CA346249446	161	T>A		No	ClinGen gnomAD
rs1273096169 CA346249448	161	T>N		No	ClinGen TOPMed
CA346249484 rs1357402522	164	R>*		No	ClinGen TOPMed
rs1262131126 CA346249485	164	R>Q		No	ClinGen gnomAD
rs965760420 CA44273368	165	M>T		No	ClinGen gnomAD
CA346249491 rs1291406057	165	M>V		No	ClinGen TOPMed
rs1212544525 CA346249522	169	K>I		No	ClinGen gnomAD
CA346249525 rs1250647813	170	G>R		No	ClinGen TOPMed gnomAD
rs1194253917 CA346249548	173	G>A		No	ClinGen gnomAD
rs976897437 CA44273369	174	V>L		No	ClinGen TOPMed
rs1406963365 CA346249581	178	T>M		No	ClinGen TOPMed gnomAD
CA346249630 rs1462592799	185	A>V		No	ClinGen TOPMed
rs1346037999 CA346249640	187	I>V		No	ClinGen gnomAD
CA346249673 rs1329854644	191	Q>R		No	ClinGen Ensembl
rs922735865 CA346249681	192	H>L		No	ClinGen gnomAD
CA44273371 rs922735865	192	H>R		No	ClinGen gnomAD
rs1349507484 CA346249685	193	M>V		No	ClinGen gnomAD
TCGA novel	197	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs946339746 CA44273372	197	V>I		No	ClinGen gnomAD
CA346249727 rs1180680426	198	P>L		No	ClinGen TOPMed
CA346249751 rs1442272752	202	F>L		No	ClinGen gnomAD
rs1298121476 CA346249755	203	N>Y		No	ClinGen gnomAD
CA346249776 rs1371550930	206	H>Y		No	ClinGen gnomAD
TCGA novel	210	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1554964 rs750902882	213	R>L		No	ClinGen ExAC gnomAD
rs750902882 CA346249840	213	R>Q		No	ClinGen ExAC gnomAD
rs766686919 CA1554966	218	L>H		No	ClinGen ExAC gnomAD
CA346249868 rs1336211088	218	L>V		No	ClinGen gnomAD
CA346249878 rs1435017560	219	Q>H		No	ClinGen TOPMed
TCGA novel	220	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346249894 rs1206621292	222	E>G		No	ClinGen gnomAD
rs375073467 CA1554967	222	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA346249917 rs1478519529	225	K>T		No	ClinGen gnomAD
CA346249923 rs1558613877	226	E>Q		No	ClinGen Ensembl
rs754598978 CA1554968	227	S>R		No	ClinGen ExAC gnomAD
CA346249939 rs1558613886	228	P>S		No	ClinGen Ensembl
TCGA novel	229	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs950343265 CA44273554	229	A>T		No	ClinGen TOPMed gnomAD
CA44273555 rs368307796	229	A>V		No	ClinGen ESP TOPMed gnomAD
CA44273557 rs1053860845	230	E>K		No	ClinGen gnomAD
rs1000232932 CA346249963	232	A>G		No	ClinGen TOPMed gnomAD
CA346249961 rs1417505914	232	A>S		No	ClinGen gnomAD
CA44273558 rs1000232932	232	A>V		No	ClinGen TOPMed gnomAD
CA44273559 rs894900083	234	R>K		No	ClinGen Ensembl
rs1573224736 CA346249980	235	C>G		No	ClinGen Ensembl
CA44273560 rs1033089836	237	R>Q		No	ClinGen TOPMed
CA346250020 rs1171797928	242	R>G		No	ClinGen gnomAD
rs1375159288 CA346250022	242	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	243	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346250060 rs1310654596	248	I>V		No	ClinGen gnomAD
rs1488051096 CA346250097	253	K>E		No	ClinGen TOPMed
rs1269075335 CA346250109	255	V>I		No	ClinGen gnomAD
rs996433592 CA346250121	257	I>L		No	ClinGen TOPMed gnomAD
rs996433592 CA44273562	257	I>V		No	ClinGen TOPMed gnomAD
CA44273601 rs1030409089	261	N>Y		No	ClinGen TOPMed gnomAD
rs763383208 CA1554982	263	S>P		No	ClinGen ExAC gnomAD
CA44273603 rs954956870	264	L>F		No	ClinGen Ensembl
rs1553395668 CA346250194	266	E>K		No	ClinGen Ensembl
CA346250212 rs1252502155	268	K>R		No	ClinGen gnomAD
CA44273604 rs373201046	273	R>C		No	ClinGen gnomAD
rs1196121415 CA346250245	273	R>H		No	ClinGen TOPMed gnomAD
CA346250247 rs1196121415	273	R>L		No	ClinGen TOPMed gnomAD
rs1378515812 CA346250288	279	M>R		No	ClinGen gnomAD
CA346250289 rs1378515812	279	M>T		No	ClinGen gnomAD
CA44273607 rs999370079	279	M>V		No	ClinGen Ensembl
rs1452388642 CA346250309	282	I>V		No	ClinGen gnomAD
TCGA novel	283	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1159515856 CA346250340	284	P>L		No	ClinGen gnomAD
rs1459415401 CA346250343	285	Q>*		No	ClinGen gnomAD
CA44273682 rs772393613	288	H>N		No	ClinGen Ensembl
CA1554991 rs753414525	291	I>L		No	ClinGen ExAC TOPMed gnomAD
CA346250385 rs1326570473	291	I>S		No	ClinGen TOPMed gnomAD
CA346250384 rs1326570473	291	I>T		No	ClinGen TOPMed gnomAD
CA346250418 rs1352166784	296	G>A		No	ClinGen gnomAD
CA44273684 rs200317950	301	N>T		No	ClinGen Ensembl
rs1468204011 CA346250466	303	R>P		No	ClinGen TOPMed
rs932253809 CA44273685	304	S>R		No	ClinGen TOPMed gnomAD
rs1332715840 CA346250481	306	A>T		No	ClinGen gnomAD
rs988152956 CA44273687	307	T>M		No	ClinGen TOPMed
rs988152956 CA44273686	307	T>R		No	ClinGen TOPMed
CA44273688 rs948655610	309	R>C		No	ClinGen TOPMed gnomAD
TCGA novel	309	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346250502 rs1194664981	310	A>T		No	ClinGen gnomAD
rs745862229 CA1554994	310	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1256403529 CA346250522	313	V>L		No	ClinGen TOPMed gnomAD
rs1256403529 CA346250520	313	V>M		No	ClinGen TOPMed gnomAD
rs1052442536 CA44273689	314	E>K		No	ClinGen Ensembl
CA346250544 rs1188990786	316	L>F		No	ClinGen gnomAD
rs1573225784 CA346250542	316	L>S		No	ClinGen Ensembl
rs1368580802 CA346250547	317	S>P		No	ClinGen gnomAD
rs893896496 CA44273690	320	A>T		No	ClinGen TOPMed
rs1573225821 CA346250576	321	V>G		No	ClinGen Ensembl
rs1372108303 CA346250571	321	V>I		No	ClinGen gnomAD
CA346250585 rs1312452665	323	A>P		No	ClinGen gnomAD
CA346250590 rs1558614479	324	A>T		No	ClinGen Ensembl
CA346250595 rs1353775957	324	A>V		No	ClinGen gnomAD
TCGA novel	328	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196789933 CA346250641	330	P>H		No	ClinGen TOPMed
CA44273716 rs567942233	339	L>M		No	ClinGen 1000Genomes TOPMed
rs946684116 CA44273718	340	L>V		No	ClinGen gnomAD
rs1192999157 CA346250715	342	Q>*		No	ClinGen gnomAD
rs1392970077 CA346250729	344	R>W		No	ClinGen gnomAD
rs1434688299 CA346250735 COSM3839151	345	L>F	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346250749 rs1267719452	347	I>V		No	ClinGen TOPMed
rs774689193 CA1555002	348	D>N		No	ClinGen ExAC gnomAD
rs1204337031 CA346250764	349	Y>C		No	ClinGen TOPMed
rs1558614706 CA346250769	350	A>T		No	ClinGen Ensembl
rs1430201169 CA346250778	351	L>P		No	ClinGen gnomAD
CA346250788 rs1446665291	353	G>R		No	ClinGen TOPMed
CA346250815 rs1440800937	356	D>E		No	ClinGen TOPMed gnomAD
rs1300938078 CA346250809	356	D>H		No	ClinGen Ensembl
CA346250816 rs1190887314 CA346250817	357	G>R		No	ClinGen TOPMed gnomAD
rs1324477222 CA346250827	358	A>V		No	ClinGen gnomAD
rs1220201249 CA346250832	359	V>A		No	ClinGen TOPMed gnomAD
rs200151921 CA44273721	360	S>I		No	ClinGen Ensembl
CA44273722 rs926688402	362	G>R		No	ClinGen TOPMed gnomAD
CA346250847 rs926688402	362	G>S		No	ClinGen TOPMed gnomAD
rs1404661120 CA346250860	364	K>E		No	ClinGen TOPMed
CA346250885 rs1377843562	367	K>M		No	ClinGen TOPMed
rs1263636513 CA346250902	369	H>Q		No	ClinGen TOPMed
rs1381327867 CA346250905	370	E>Q		No	ClinGen Ensembl
rs1329255340 CA346250920	372	R>C		No	ClinGen TOPMed gnomAD
CA346250921 rs1329255340	372	R>G		No	ClinGen TOPMed gnomAD
rs374994391 CA1555005	372	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374994391 CA346250924	372	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346250925 rs1573226174	373	M>L		No	ClinGen Ensembl
rs760348051 CA1555006	377	A>V		No	ClinGen ExAC gnomAD
CA44273724 rs1004105108	378	V>I		No	ClinGen gnomAD
CA346250990 CA346250991 rs1412723246	382	V>L		No	ClinGen TOPMed gnomAD
rs1021985047 CA346251017	384	S>C		No	ClinGen TOPMed gnomAD
CA44273821 rs1021985047	384	S>F		No	ClinGen TOPMed gnomAD
CA346251019 rs1281917205	385	F>V		No	ClinGen gnomAD
CA346251041 rs1246340076	388	T>A		No	ClinGen TOPMed
CA11060927 rs985500720	388	T>M		No	ClinGen TOPMed gnomAD
rs770950296 CA1555021	389	L>P		No	ClinGen ExAC gnomAD
CA346251079 rs1308422246	394	R>C		No	ClinGen TOPMed
CA346251090 rs1208358196	396	E>Q		No	ClinGen gnomAD
rs1573227375 CA346251102	397	V>G		No	ClinGen Ensembl
rs868276623 CA44273824	399	L>F		No	ClinGen Ensembl
rs1186399706 CA346251123	401	I>L		No	ClinGen gnomAD
rs1388879988 CA346251133	402	M>T		No	ClinGen gnomAD
CA346251152 rs1388481764	404	K>R		No	ClinGen TOPMed
rs1169586761 CA346251164	406	P>L		No	ClinGen gnomAD
TCGA novel	406	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA44273825 rs1002433629	407	R>Q		No	ClinGen TOPMed gnomAD
CA346251168 rs1433701344	407	R>W		No	ClinGen gnomAD
rs1360324520 CA346251176	408	P>L		No	ClinGen gnomAD
CA44273826 rs553917604	413	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs572120781 CA44273827 COSM4164472	413	A>V	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
rs1298048403 CA346251233	415	D>G		No	ClinGen gnomAD
rs1573227450 CA346251280	419	T>A		No	ClinGen Ensembl
CA1555027 rs561496787	419	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1215126518 CA346251289	420	G>R		No	ClinGen gnomAD
CA346251358 rs1450444198	422	N>T		No	ClinGen gnomAD
rs754020231 CA1555038	425	R>H		No	ClinGen ExAC TOPMed gnomAD
CA346251401 rs1311663618	426	L>M		No	ClinGen gnomAD
CA44273866 rs929726474	427	T>I		No	ClinGen TOPMed
rs1157983312 CA346251434	428	Q>H		No	ClinGen gnomAD
rs1409047141 CA346251451	429	I>M		No	ClinGen TOPMed gnomAD
rs778802290 CA1555040	430	M>I		No	ClinGen ExAC gnomAD
rs1573227786 CA346251471	431	L>V		No	ClinGen Ensembl
CA346251540 rs1430871975	436	L>R		No	ClinGen TOPMed
CA346251548 rs1403570293	437	Q>E		No	ClinGen gnomAD
rs1372610137 CA346252115	438	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA346252133 rs1410739256	441	G>A		No	ClinGen gnomAD
rs1423854515 CA346252142	442	F>L		No	ClinGen TOPMed
CA346252177 rs1573229610	447	M>V		No	ClinGen Ensembl
CA346252245 rs1312076692	457	D>N		No	ClinGen gnomAD
CA44274087 COSM1482981 rs187995146	458	R>C	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
CA346252255 rs1247536046	458	R>H		No	ClinGen gnomAD
rs1247536046 CA346252257	458	R>L		No	ClinGen gnomAD
rs1474073067 CA346252263	459	L>R		No	ClinGen TOPMed
rs1573229636 CA346252275	461	S>F		No	ClinGen Ensembl
rs762376709 CA44274088	463	A>T	Variant assessed as Somatic; 5.914e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199697561 CA44274089	463	A>V		No	ClinGen gnomAD
rs1277268879 CA346252295	465	M>R		No	ClinGen gnomAD
rs1277268879 CA346252296	465	M>T		No	ClinGen gnomAD
CA346252326 rs1205506318	469	E>A		No	ClinGen gnomAD
TCGA novel	469	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346252339 rs1254796768	471	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1469558330 CA346252345	472	L>F		No	ClinGen TOPMed
rs1421549475 CA346252348	472	L>P		No	ClinGen gnomAD
rs1206692278 CA346252361	474	V>A		No	ClinGen TOPMed
rs1553396356 CA346252358	474	V>L		No	ClinGen Ensembl
CA346252369 rs1573229684	476	E>Q		No	ClinGen Ensembl
rs1189485654 CA346252398	480	S>G		No	ClinGen gnomAD
CA44274091 rs568748606	480	S>I		No	ClinGen 1000Genomes
CA346252417 rs1369011075	482	I>M		No	ClinGen gnomAD
COSM1407079 rs1157702710 CA346252429	484	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA346252439 rs1448841448	485	H>Q		No	ClinGen TOPMed gnomAD
CA44274092 rs900722083	486	G>S		No	ClinGen TOPMed
CA346252448 rs761487297	487	N>S		No	ClinGen ExAC gnomAD
CA1555047 rs761487297	487	N>T		No	ClinGen ExAC gnomAD
CA346252455 rs1391844763	488	R>C		No	ClinGen gnomAD
rs767669556 CA44274093	488	R>H		No	ClinGen TOPMed gnomAD
CA1555048 rs536585453	489	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1555049 rs772795747	493	T>I		No	ClinGen ExAC gnomAD
CA346252490 rs772795747	493	T>N		No	ClinGen ExAC gnomAD
rs1467807462 CA346252534	498	S>N		No	ClinGen TOPMed gnomAD
CA346252553 rs551032820	500	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1201162690 CA346252548	500	I>V		No	ClinGen TOPMed
CA346252560 rs1433459561	502	V>I		No	ClinGen gnomAD
rs1366332125 CA346252628	512	R>G		No	ClinGen gnomAD
rs1293151236 CA346252630	512	R>Q		No	ClinGen TOPMed
CA346252650 rs1413477557	515	T>A		No	ClinGen TOPMed
rs201336240 CA1555060	516	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA346252671 rs1235033037	518	M>T		No	ClinGen gnomAD
CA44274180 rs775062220	518	M>V		No	ClinGen gnomAD
CA346252711 rs1450754905	521	H>Q		No	ClinGen TOPMed
rs1471762430 CA346252706	521	H>Y		No	ClinGen gnomAD
CA346252728 rs1184401237	524	Q>*		No	ClinGen gnomAD
rs1412879883 CA346252732	524	Q>H		No	ClinGen TOPMed gnomAD
CA346252734 rs1423682364	525	L>I		No	ClinGen gnomAD
rs902324075 CA346252744	526	Y>C		No	ClinGen TOPMed
rs902324075 CA44274259	526	Y>F		No	ClinGen TOPMed
rs1351942453 CA346252749	527	R>K		No	ClinGen gnomAD
rs1458754240 CA346252760	528	H>Q		No	ClinGen gnomAD
rs999340798 CA44274261	532	S>N		No	ClinGen TOPMed gnomAD
CA44274262 rs368226672	536	E>K		No	ClinGen ESP TOPMed
rs1289660730 CA346252821	537	T>A		No	ClinGen gnomAD
CA346252824 rs1373448941	537	T>I		No	ClinGen gnomAD
CA44274263 rs1037674003	539	V>M		No	ClinGen TOPMed gnomAD
rs773895355 CA346252872	544	E>*		No	ClinGen gnomAD
TCGA novel	544	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA44274266 rs773895355 COSM1407083	544	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346252883 rs1482195002	545	A>V		No	ClinGen TOPMed gnomAD
rs890324239 CA44274267	546	L>I		No	ClinGen gnomAD
rs544496301 CA1555072	549	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346252910 rs1158708810	550	L>V		No	ClinGen TOPMed
TCGA novel	552	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346252945 rs1573231112	555	I>T		No	ClinGen Ensembl
rs893685982 CA346252948	556	E>K		No	ClinGen gnomAD
rs893685982 CA44274269	556	E>Q		No	ClinGen gnomAD
CA346252976 rs1480658484	560	E>K		No	ClinGen TOPMed
CA346252995 rs1573231145	562	V>G		No	ClinGen Ensembl
TCGA novel	562	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346252999 rs1573231148	563	V>G		No	ClinGen Ensembl
CA346253007 rs1573231153	564	V>G		No	ClinGen Ensembl
CA346253012 rs1573231158	565	D>G		No	ClinGen Ensembl
CA44274271 rs368601264	568	R>C		No	ClinGen ESP TOPMed gnomAD
CA346253032 rs1427362459	568	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA44274270 rs368601264	568	R>S		No	ClinGen ESP TOPMed gnomAD
rs1286995428 CA346253041	570	V>A		No	ClinGen TOPMed
rs770082853 CA44274272	570	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	572	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346253049 rs1446684731	572	A>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1381217353 CA346253055	573	V>L		No	ClinGen gnomAD
rs1436978448 CA346253086	575	D>E		No	ClinGen gnomAD
rs1270589286 CA346253089	576	V>L		No	ClinGen gnomAD
rs1270589286 CA346253088	576	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA346253108 rs1344570235	579	V>I		No	ClinGen gnomAD
rs754479374 CA44274433	580	N>S		No	ClinGen gnomAD
CA1555086 rs748903993	582	E>K		No	ClinGen ExAC gnomAD
CA346253156 rs1222632046	585	P>L		No	ClinGen TOPMed
CA346253175 rs1473560764	588	N>S		No	ClinGen Ensembl
rs770503339 CA1555087	589	R>C		No	ClinGen ExAC gnomAD
rs1573232242 CA346253181	589	R>H		No	ClinGen Ensembl
rs1194310292 CA346253189	590	C>F		No	ClinGen TOPMed gnomAD
rs1281724721 CA346253192	591	A>S		No	ClinGen TOPMed
CA346253226 rs1267618542	596	G>D		No	ClinGen gnomAD
CA346253230 rs774049191	597	A>S		No	ClinGen ExAC gnomAD
rs774049191 CA1555088	597	A>T		No	ClinGen ExAC gnomAD
rs1553396885 CA346253246	599	Y>*		No	ClinGen Ensembl
rs951910196 CA44274436	599	Y>F		No	ClinGen TOPMed
CA346253257 rs1282468296	601	N>S		No	ClinGen TOPMed
CA44274437 rs538763668	603	I>V		No	ClinGen 1000Genomes TOPMed
CA44274438 rs960569532	606	L>F		No	ClinGen TOPMed gnomAD
CA346253302 rs1303814893	608	T>K		No	ClinGen TOPMed
CA346253324 rs1386322170	612	F>L		No	ClinGen gnomAD
CA346253353 rs1343615368	615	H>Q		No	ClinGen TOPMed
CA346253401 rs1240306462	620	I>T		No	ClinGen gnomAD
CA346253408 rs1284147634	621	E>V		No	ClinGen gnomAD
CA346253415 rs1230353438	622	T>I		No	ClinGen gnomAD
CA346253435 rs1293040911	625	K>T		No	ClinGen gnomAD
rs1490406885 CA346253449	627	A>P		No	ClinGen gnomAD
CA346253462 rs1227902351	629	Y>D		No	ClinGen TOPMed
rs1227902351 CA346253461	629	Y>H		No	ClinGen TOPMed
rs1553397206 CA346253469	630	M>V		No	ClinGen Ensembl
TCGA novel	633	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA44274672 rs569363896	633	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
rs569363896 CA346253490	633	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA346253502 rs1439072775	634	D>E		No	ClinGen gnomAD
TCGA novel	641	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163113320 CA346253574	643	S>F		No	ClinGen gnomAD
rs1396956290 CA346253623	651	I>L		No	ClinGen TOPMed
CA44274903 rs748085410	651	I>T		No	ClinGen TOPMed
CA346253645 rs1172054437	654	L>F		No	ClinGen gnomAD
rs61746664 CA1555116	656	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1555117 rs373458540	656	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs752732769 CA1555118	658	S>N		No	ClinGen ExAC gnomAD
CA44274905 rs941886608	659	K>N		No	ClinGen TOPMed
rs369688644 CA1555120	662	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346253731 rs1327831152	667	S>N		No	ClinGen gnomAD
rs1227784515 CA346253735	667	S>R		No	ClinGen gnomAD
TCGA novel	668	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754411223 CA1555121	669	Y>*		No	ClinGen ExAC gnomAD
CA44274906 rs931913881	669	Y>C		No	ClinGen Ensembl
CA346253754 rs748268434	670	N>K		No	ClinGen TOPMed gnomAD
CA1555122 rs377306537 COSM1407087	671	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1573235736 CA346253756	671	S>T		No	ClinGen Ensembl
CA346253771 rs1464417811	673	R>Q		No	ClinGen TOPMed gnomAD
CA346253770 rs1249614546	673	R>W		No	ClinGen TOPMed
rs1429277265 CA346253798	677	P>L		No	ClinGen gnomAD
CA346253803 rs1337114813	678	Y>C		No	ClinGen gnomAD
rs894718994 CA44275021	687	R>C		No	ClinGen TOPMed
CA1555134 rs199969836	687	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs745979911 CA44275022	694	I>T		No	ClinGen TOPMed gnomAD
rs1292186414 CA346253941	696	E>D		No	ClinGen gnomAD
rs1056207742 CA44275024	698	I>T		No	ClinGen TOPMed gnomAD
rs1406452118 CA346253975	702	V>L		No	ClinGen gnomAD
CA346253973 rs1406452118	702	V>M		No	ClinGen gnomAD
rs1189372127 CA346253991	704	V>A		No	ClinGen TOPMed
TCGA novel	706	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377373467 CA44275026	708	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1245535011 CA346254025	709	S>T		No	ClinGen gnomAD
COSM1407089 rs370707193 CA44275028	710	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA44275027 rs370707193	710	P>Q		No	ClinGen ESP TOPMed gnomAD
CA1555139 rs754248088	712	K>E		No	ClinGen ExAC TOPMed gnomAD
CA346254051 rs1289415198	712	K>T		No	ClinGen gnomAD
rs775531991 CA44275031	714	E>Q		No	ClinGen gnomAD
CA44275523 rs777702211	715	R>Q		No	ClinGen TOPMed gnomAD
rs1202273756 CA346254568	718	A>T		No	ClinGen gnomAD
CA346254646 rs1188319474	729	A>T		No	ClinGen gnomAD
rs768575778 CA1555155	729	A>V		No	ClinGen ExAC gnomAD
CA346254674 rs1490096329	731	V>A		No	ClinGen TOPMed gnomAD
CA44275750 rs1002111822 COSM3709566	734	V>I	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1555164 rs766872394	741	R>C		No	ClinGen ExAC TOPMed gnomAD
rs894458724 CA44275751	741	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs752268312 CA1555165	742	E>A		No	ClinGen ExAC gnomAD
rs867367588 CA44275752	743	R>Q		No	ClinGen Ensembl
rs1318768200 CA346254753	743	R>W		No	ClinGen gnomAD
rs1403397293 CA346254758	744	R>Q		No	ClinGen TOPMed gnomAD
rs1349509343 CA346254757	744	R>W		No	ClinGen gnomAD
rs1304974202 CA346254762	745	R>W		No	ClinGen TOPMed gnomAD
rs1440649980 CA346254768	746	Q>*		No	ClinGen TOPMed
CA346254772 rs1392841458	746	Q>H		No	ClinGen TOPMed
rs755752048 CA1555166	747	V>G		No	ClinGen ExAC gnomAD
CA346254784 rs1573241981	748	V>G		No	ClinGen Ensembl
rs1458950881 CA346254790	749	E>V		No	ClinGen TOPMed
rs948713573 CA44275754	750	K>E		No	ClinGen TOPMed
rs1353533943 CA346254823	753	K>N		No	ClinGen gnomAD
rs1224655446 CA346254830	754	A>V		No	ClinGen gnomAD
CA1555168 rs777821230	755	P>S		No	ClinGen ExAC gnomAD
rs373765390 CA44275755	756	F>C		No	ClinGen ESP TOPMed
rs1219801153 CA346254863	759	I>T		No	ClinGen TOPMed gnomAD
rs1490081146 CA346254860	759	I>V		No	ClinGen gnomAD
CA1555169 rs749285945	762	H>N		No	ClinGen ExAC TOPMed gnomAD
CA346254883 rs1180526325	762	H>Q		No	ClinGen gnomAD
CA346254886 rs1265115636	763	C>R		No	ClinGen TOPMed
CA346254896 rs1471155538	764	G>E		No	ClinGen gnomAD
rs1013343231 CA44275757	766	R>P		No	ClinGen gnomAD
CA346254907 rs1013343231	766	R>Q		No	ClinGen gnomAD
CA346254905 rs778796945	766	R>W		No	ClinGen ExAC TOPMed gnomAD
CA44275935 rs910888823	768	S>L		No	ClinGen Ensembl
CA346254944 rs1336672602	769	L>P		No	ClinGen TOPMed gnomAD
rs1336672602 CA346254946	769	L>R		No	ClinGen TOPMed gnomAD
CA346254964 rs1454888370	771	Q>H		No	ClinGen gnomAD
rs1573243400 CA346254960	771	Q>P		No	ClinGen Ensembl
CA346254976 rs1316253072	772	S>R		No	ClinGen gnomAD
rs1226253929 CA346255001	775	N>S		No	ClinGen gnomAD
CA44275937 rs764918464	782	I>V		No	ClinGen Ensembl
rs758185605 CA44275938	783	R>Q		No	ClinGen TOPMed gnomAD
CA1555177 rs372611262	783	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346255131 rs1480746366	786	P>A		No	ClinGen Ensembl
CA346255165 rs1465427019	789	S>*		No	ClinGen TOPMed
rs1203209772 CA346255182	791	T>I		No	ClinGen gnomAD
rs1573243776 CA346255176	791	T>P		No	ClinGen Ensembl
CA346255188 rs1178619075	792	I>N		No	ClinGen TOPMed
rs1480822715 CA346255201	793	T>I		No	ClinGen TOPMed
CA44275987 rs549836377	794	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1177829793 CA346255228	796	Y>*		No	ClinGen TOPMed gnomAD
rs1481665977 CA346255225	796	Y>C		No	ClinGen TOPMed gnomAD
rs1363535631 CA346255231	797	G>S		No	ClinGen TOPMed gnomAD
rs1452052060 CA346255257	799	P>L	Variant assessed as Somatic; 5.908e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA346255256 rs1452052060	799	P>R		No	ClinGen TOPMed gnomAD
rs1386684069 CA346255261	800	Q>*		No	ClinGen gnomAD
rs1400294744 CA346255265	800	Q>R		No	ClinGen gnomAD
rs1343104836 CA346255310	804	I>M		No	ClinGen gnomAD
rs1301930816 CA346255306	804	I>N		No	ClinGen gnomAD
rs377032705 CA1555188	806	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1555190 CA44275989 rs2164808	807	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1236601229 CA346255337	808	E>K		No	ClinGen gnomAD
rs1490189455 CA346255392	812	P>L		No	ClinGen gnomAD
CA346255393 rs1262329645	813	D>N		No	ClinGen TOPMed gnomAD
CA346255396 rs1262329645	813	D>Y		No	ClinGen TOPMed gnomAD
CA44275990 rs938358602	817	Y>H		No	ClinGen TOPMed

No associated diseases with Q9Y2G0

6 regional properties for Q9Y2G0

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	81 - 125	IPR001680-1
repeat	WD40 repeat	131 - 176	IPR001680-2
repeat	WD40 repeat	179 - 273	IPR001680-3
repeat	WD40 repeat	295 - 332	IPR001680-4
repeat	WD40 repeat	397 - 438	IPR001680-5
conserved_site	WD40 repeat, conserved site	206 - 220	IPR019775

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Lipid-anchor Cytoplasm, cytosol	Palmitoylation anchors the protein to the plasma membrane (PubMed:23229899, PubMed:25380825) A small amount is observed in the cytosol (PubMed:25380825)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
phosphatidylinositol phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q14156	EFR3A	Protein EFR3 homolog A	Homo sapiens (Human)	PR
Q8BG67	Efr3a	Protein EFR3 homolog A	Mus musculus (Mouse)	PR
Q6ZQ18	Efr3b	Protein EFR3 homolog B	Mus musculus (Mouse)	PR
Q5SPP5	efr3b	Protein EFR3 homolog B	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MYGVCGCCGA	LRPRYKRLVD	NIFPEDPEDG	LVKTNMEKLT	FYALSAPEKL	DRIGAYLSER
70	80	90	100	110	120
LIRDVGRHRY	GYVCIAMEAL	DQLLMACHCQ	SINLFVESFL	KMVAKLLESE	KPNLQILGTN
130	140	150	160	170	180
SFVKFANIEE	DTPSYHRSYD	FFVSRFSEMC	HSSHDDLEIK	TKIRMSGIKG	LQGVVRKTVN
190	200	210	220	230	240
DELQANIWDP	QHMDKIVPSL	LFNLQHVEEA	ESRSPSPLQA	PEKEKESPAE	LAERCLRELL
250	260	270	280	290	300
GRAAFGNIKN	AIKPVLIHLD	NHSLWEPKVF	AIRCFKIIMY	SIQPQHSHLV	IQQLLGHLDA
310	320	330	340	350	360
NSRSAATVRA	GIVEVLSEAA	VIAATGSVGP	TVLEMFNTLL	RQLRLSIDYA	LTGSYDGAVS
370	380	390	400	410	420
LGTKIIKEHE	ERMFQEAVIK	TVGSFASTLP	TYQRSEVILF	IMSKVPRPSL	HQAVDTGRTG
430	440	450	460	470	480
ENRNRLTQIM	LLKSLLQVST	GFQCNNMMSA	LPSNFLDRLL	STALMEDAEI	RLFVLEILIS
490	500	510	520	530	540
FIDRHGNRHK	FSTISTLSDI	SVLKLKVDKC	SRQDTVFMKK	HSQQLYRHIY	LSCKEETNVQ
550	560	570	580	590	600
KHYEALYGLL	ALISIELANE	EVVVDLIRLV	LAVQDVAQVN	EENLPVYNRC	ALYALGAAYL
610	620	630	640	650	660
NLISQLTTVP	AFCQHIHEVI	ETRKKEAPYM	LPEDVFVERP	RLSQNLDGVV	IELLFRQSKI
670	680	690	700	710	720
SEVLGGSGYN	SDRLCLPYIP	QLTDEDRLSK	RRSIGETISL	QVEVESRNSP	EKEERVPAEE
730	740	750	760	770	780
ITYETLKKAI	VDSVAVEEQE	RERRRQVVEK	FQKAPFEEIA	AHCGARASLL	QSKLNQIFEI
790	800	810
TIRPPPSPSG	TITAAYGQPQ	NHSIPVYEMK	FPDLCVY