AiPD: Autoinhibited Protein Database

O60749

Gene name	SNX2 (TRG9)
Protein name	Sorting nexin-2
Names	Transformation-related gene 9 protein, TRG-9
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6643
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

70-153 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

70-153 (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 O60749

Entry ID	Method	Resolution	Chain	Position	Source
AF-O60749-F1	Predicted				AlphaFoldDB

380 variants for O60749

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA360921562 COSM1060098 rs1445558654	3	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs192241316 CA3385208	4	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs987157027 CA126734687	4	E>K		No	ClinGen TOPMed
rs748246176 CA3385209	5	R>G		No	ClinGen ExAC gnomAD
CA3385210 rs758576900	5	R>K		No	ClinGen ExAC gnomAD
CA3385213 rs766697437	6	E>D		No	ClinGen ExAC TOPMed gnomAD
rs761074816 CA126734689	6	E>G		No	ClinGen Ensembl
CA3385212 rs377578117	6	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs377578117 CA360921579	6	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA360921586 rs957416964	7	P>H		No	ClinGen TOPMed gnomAD
CA126734690 rs957416964	7	P>L		No	ClinGen TOPMed gnomAD
CA360921587 rs957416964	7	P>R		No	ClinGen TOPMed gnomAD
CA3385215 rs745788857	7	P>S		No	ClinGen ExAC gnomAD
CA360921584 rs745788857	7	P>T		No	ClinGen ExAC gnomAD
rs1229445762 CA360921593	8	P>H		No	ClinGen TOPMed gnomAD
CA360921591 rs1229445762	8	P>L		No	ClinGen TOPMed gnomAD
rs1229445762 CA360921592	8	P>R		No	ClinGen TOPMed gnomAD
rs1338652498 CA360921590	8	P>S		No	ClinGen TOPMed gnomAD
rs934832922 CA360921597	9	P>L		No	ClinGen gnomAD
CA126734691 rs934832922	9	P>R		No	ClinGen gnomAD
CA3385216 rs769904376	9	P>S		No	ClinGen ExAC gnomAD
CA360921605 rs754332350	11	G>E		No	ClinGen ExAC TOPMed gnomAD
CA126734693 CA360921603 rs549982759	11	G>R		No	ClinGen 1000Genomes gnomAD
rs754332350 CA3385220	11	G>V		No	ClinGen ExAC TOPMed gnomAD
CA360921607 rs1194517257	12	D>N		No	ClinGen gnomAD
TCGA novel	12	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766734934 CA360921617	13	G>E		No	ClinGen ExAC TOPMed gnomAD
CA360921616 rs761437804 CA3385221	13	G>R		No	ClinGen ExAC TOPMed gnomAD
rs766734934 CA3385222	13	G>V		No	ClinGen ExAC TOPMed gnomAD
CA360921624 rs1430285468	14	K>N		No	ClinGen gnomAD
rs1014883948 CA126734694	14	K>R		No	ClinGen Ensembl
CA3385224 rs755462431	15	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752705063 CA3385226	16	T>I		No	ClinGen ExAC gnomAD
CA360921641 rs1318873940	17	D>E		No	ClinGen gnomAD
rs758482077 CA3385227	17	D>N		No	ClinGen ExAC gnomAD
rs1216217483 CA360921662	20	D>A		No	ClinGen gnomAD
CA3385228 rs777885208	20	D>E		No	ClinGen ExAC gnomAD
CA3385229 rs747254695	24	G>A		No	ClinGen ExAC gnomAD
rs747254695 CA126734696	24	G>E		No	ClinGen ExAC gnomAD
rs146742044 CA126734695	24	G>R		No	ClinGen ESP gnomAD
rs200134630 CA3385230	25	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360921717 rs1201714436	28	F>L		No	ClinGen gnomAD
rs1480235428 CA360921735	31	T>I		No	ClinGen gnomAD
CA3385234 rs775575359	33	S>A		No	ClinGen ExAC gnomAD
rs140520570 CA360921753	34	T>I		No	ClinGen ESP gnomAD
rs140520570 CA126734697	34	T>S		No	ClinGen ESP gnomAD
rs748749986 CA3385235	35	L>I		No	ClinGen ExAC TOPMed gnomAD
rs768269905 CA3385236	36	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA360922391 rs1248876433	37	S>L		No	ClinGen gnomAD
CA3385254 rs142759863	38	S>I		No	ClinGen ESP ExAC gnomAD
rs747641555 CA360922415	41	S>F		No	ClinGen ExAC gnomAD
rs747641555 CA3385255	41	S>Y		No	ClinGen ExAC gnomAD
CA3385256 rs376650413	42	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs772750620 CA360922432	44	P>L		No	ClinGen ExAC TOPMed gnomAD
CA126737096 rs772750620	44	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA3385257 rs772750620	44	P>R		No	ClinGen ExAC TOPMed gnomAD
rs760373789 CA3385258	45	A>G		No	ClinGen ExAC gnomAD
rs770136590 CA3385259	48	P>L		No	ClinGen ExAC TOPMed gnomAD
rs775876447 CA3385260	51	D>G		No	ClinGen ExAC TOPMed gnomAD
CA126737097 rs1033988012	51	D>H		No	ClinGen TOPMed gnomAD
CA360922471 rs1033988012	51	D>N		No	ClinGen TOPMed gnomAD
rs764535287 CA3385262	52	I>F		No	ClinGen ExAC TOPMed gnomAD
CA3385263 rs751621812	52	I>S		No	ClinGen ExAC gnomAD
CA360922478 rs764535287	52	I>V		No	ClinGen ExAC TOPMed gnomAD
CA126737098 rs948512806	53	S>G		No	ClinGen TOPMed gnomAD
rs151068885 CA3385266	55	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs767720520 CA3385265	55	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA360922535 rs1383119326	56	S>C		No	ClinGen gnomAD
CA360922538 rs1383119326	56	S>F		No	ClinGen gnomAD
CA3385267 rs756473092	57	N>S		No	ClinGen ExAC gnomAD
rs779971893 CA3385268	59	P>A		No	ClinGen ExAC gnomAD
CA360922586 rs1316119658	59	P>L		No	ClinGen gnomAD
TCGA novel	60	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561451447 CA360922631	62	T>I		No	ClinGen Ensembl
CA360922634 rs1442967487	63	E>K		No	ClinGen TOPMed
rs753705736 CA3385269	63	E>V		No	ClinGen ExAC gnomAD
CA3385270 rs754926241	64	V>F		No	ClinGen ExAC gnomAD
CA3385272 rs201842483	69	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	70	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3385273 rs771467838	70	R>K		No	ClinGen ExAC gnomAD
CA360922777 rs1581630824	71	E>G		No	ClinGen Ensembl
rs1205359909 CA360922769	71	E>K		No	ClinGen gnomAD
TCGA novel	72	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3385275 rs746637244	73	L>I		No	ClinGen ExAC gnomAD
rs1482889825 CA360922822	74	F>L		No	ClinGen gnomAD
CA360878938 rs1274465030	77	A>D		No	ClinGen gnomAD
TCGA novel	77	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360878953 rs1331596307	78	T>I		No	ClinGen TOPMed
CA3385297 rs780830561	86	P>L		No	ClinGen ExAC gnomAD
rs749597668 CA3385298	89	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3385299 rs150214828	90	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200448389 CA3385300	91	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3385302 rs772655334	92	L>V		No	ClinGen ExAC gnomAD
rs755031564 CA3385304	94	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs11551069 CA125939845	95	E>*		No	ClinGen Ensembl
rs141745241 CA3385306	95	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs759865244 CA360879324	99	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3385308 rs759865244	99	A>V		No	ClinGen ExAC TOPMed gnomAD
rs764906749 CA3385309	100	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1329587127 CA360879340	101	T>P		No	ClinGen gnomAD
CA360879383 rs1277988853	102	P>L		No	ClinGen TOPMed
rs1312468501 CA360879378	102	P>S		No	ClinGen TOPMed gnomAD
rs1444560108 CA360879401	103	V>A		No	ClinGen gnomAD
CA360879386 COSM1432699 rs1199674289	103	V>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs569232661 CA125939901	104	T>N		No	ClinGen 1000Genomes
CA125939910 rs865871409	105	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA360879437 rs1239405419	106	T>A		No	ClinGen gnomAD
CA3385310 rs752589956	106	T>N		No	ClinGen ExAC gnomAD
CA360879441 rs752589956	106	T>S		No	ClinGen ExAC gnomAD
rs758222741 CA3385311	107	T>I		No	ClinGen ExAC TOPMed gnomAD
CA360879466 rs1288461473	108	L>F		No	ClinGen gnomAD
rs1449523118 CA360879498	110	A>T		No	ClinGen gnomAD
CA360879511 rs1236731954	111	P>L		No	ClinGen TOPMed
rs751008407 CA3385313	111	P>T		No	ClinGen ExAC gnomAD
rs922174844 CA125939941	113	I>T		No	ClinGen Ensembl
rs1239233937 CA360879555	116	K>T		No	ClinGen gnomAD
rs1177359651 CA360879577	117	S>N		No	ClinGen gnomAD
COSM1432700 CA3385316 rs750041300	118	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs780738525 CA3385315	118	M>V		No	ClinGen ExAC TOPMed gnomAD
CA360879635 rs1353784446	121	P>T		No	ClinGen TOPMed
CA3385319 rs138514194	122	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3385318 COSM202697 rs138514194	122	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA125939965 rs772393169	123	I>N		No	ClinGen ExAC gnomAD
CA3385320 rs772393169	123	I>S		No	ClinGen ExAC gnomAD
rs1332279713 CA360879732	125	D>A		No	ClinGen gnomAD
rs1461939558 CA360879767	128	R>S		No	ClinGen gnomAD
TCGA novel	129	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3385321 rs778437342	130	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	131	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360880523 rs1216337574	131	I>T		No	ClinGen gnomAD
CA360880510 rs1371888017	131	I>V		No	ClinGen Ensembl
rs778345519 CA3385345	133	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1471167517 CA360880581	134	E>A		No	ClinGen gnomAD
CA3385347 rs771612228	134	E>K		No	ClinGen ExAC TOPMed gnomAD
CA360880575 rs771612228	134	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA360880596 rs1334233075	135	A>P		No	ClinGen TOPMed gnomAD
rs1358252067 CA360880604	135	A>V		No	ClinGen TOPMed gnomAD
CA125941738 rs183437595	136	N>D		No	ClinGen 1000Genomes
CA360880628 rs1561456733	136	N>K		No	ClinGen Ensembl
CA125941747 rs932117383	141	D>E		No	ClinGen TOPMed
rs143461530 CA360880691	141	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3385349 rs143461530	141	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3385348 rs142711818	141	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs775852555 CA125941753	142	I>V		No	ClinGen Ensembl
rs769845907 CA3385350	145	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1405363678 CA360880738	148	D>V		No	ClinGen TOPMed
CA360880794 rs1468339874	154	D>E		No	ClinGen TOPMed
rs1379562838 CA360880798	155	G>D		No	ClinGen gnomAD
CA360880808 rs1309133955	156	M>I		No	ClinGen gnomAD
rs1241570666 CA360880806	156	M>T		No	ClinGen gnomAD
rs1352097178 CA360880820	158	A>S		No	ClinGen gnomAD
CA360880818 rs1352097178	158	A>T		No	ClinGen gnomAD
CA360880822 rs1223898277	158	A>V		No	ClinGen gnomAD
CA360880829 rs1405416300	159	Y>F		No	ClinGen TOPMed
rs760412062 CA125942047	161	A>T		No	ClinGen Ensembl
CA360880849 rs1266050566	162	Y>S		No	ClinGen gnomAD
TCGA novel	163	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488280968 CA360880866	164	V>G		No	ClinGen gnomAD
TCGA novel	164	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA125942066 rs758516163	166	T>I		No	ClinGen Ensembl
TCGA novel	167	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759124364 CA3385401	171	S>A		No	ClinGen ExAC gnomAD
rs764928550 CA3385402	171	S>C		No	ClinGen ExAC gnomAD
CA360881161 rs759124364	171	S>P		No	ClinGen ExAC gnomAD
rs759124364 CA360881159	171	S>T		No	ClinGen ExAC gnomAD
CA125943372 rs751566451	172	M>T		No	ClinGen Ensembl
CA360881201 rs1170418495	174	S>G		No	ClinGen gnomAD
CA360881208 rs1398549561	174	S>N		No	ClinGen gnomAD
rs771488440 CA3385403	174	S>R		No	ClinGen ExAC TOPMed gnomAD
CA360881315 rs762764284	177	E>D		No	ClinGen ExAC gnomAD
rs766827774 CA3385408	186	D>E		No	ClinGen ExAC gnomAD
rs761196086 CA3385407	186	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753855706 CA3385409	190	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3385410 rs755035800	192	S>N		No	ClinGen ExAC gnomAD
rs1320285029 CA360881754	196	S>R		No	ClinGen TOPMed
rs1018972486 CA125943410	197	K>R		No	ClinGen Ensembl
rs904118020 CA125943417	199	L>*		No	ClinGen Ensembl
CA3385411 rs779030719	200	H>P		No	ClinGen ExAC gnomAD
CA360881834 rs1261439861	200	H>Q		No	ClinGen TOPMed
rs752884971 CA3385412	202	G>V		No	ClinGen ExAC
rs1264628787 CA360881904	205	V>L		No	ClinGen gnomAD
rs977945270 CA125943438	207	P>Q		No	ClinGen TOPMed
CA360881931 rs1304128492	207	P>S		No	ClinGen TOPMed
rs777571495 CA3385414	209	P>T		No	ClinGen ExAC TOPMed gnomAD
rs923853978 CA125943458	210	E>A		No	ClinGen TOPMed
rs1416489337 CA360881974	212	S>R		No	ClinGen gnomAD
CA360881989 rs1177187305	213	I>T		No	ClinGen gnomAD
CA125949064 rs143960039	219	V>I		No	ClinGen 1000Genomes
rs756992726 CA360883327	222	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3385438 rs756992726	222	G>S		No	ClinGen ExAC TOPMed gnomAD
rs781203632 CA3385439	223	K>N		No	ClinGen ExAC
TCGA novel	225	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360883461 rs1316257617	228	S>F		No	ClinGen gnomAD
CA125949105 rs370014147	229	T>S		No	ClinGen ESP TOPMed
CA360883504 rs1351850625	230	E>V		No	ClinGen gnomAD
CA125949108 rs557448366	232	V>L		No	ClinGen Ensembl
CA3385440 rs745773104	233	E>G		No	ClinGen ExAC gnomAD
rs1366629396 CA360883605	235	R>Q		No	ClinGen gnomAD
rs1275293322 CA360883601	235	R>W		No	ClinGen gnomAD
CA3385464 rs747733159	244	Q>H		No	ClinGen ExAC gnomAD
rs778524808 CA3385463	244	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	245	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3385466 rs776937242	248	K>E		No	ClinGen ExAC gnomAD
TCGA novel	249	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61762675 CA125954823	249	H>Y		No	ClinGen gnomAD
rs770226643 CA3385468	250	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746234808 CA3385467	250	P>T		No	ClinGen ExAC gnomAD
CA360885314 rs1347239162	253	L>V		No	ClinGen TOPMed
CA3385470 rs763586094	254	Q>K		No	ClinGen ExAC gnomAD
CA3385471 rs764050330	255	D>N		No	ClinGen ExAC TOPMed gnomAD
CA360885338 rs1281385227	257	D>N		No	ClinGen TOPMed gnomAD
CA3385472 rs774539526	257	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1281385227 CA360885340	257	D>Y		No	ClinGen TOPMed gnomAD
rs1443447369 CA360885354	259	R>K		No	ClinGen gnomAD
rs1169751567 CA360885359	260	Q>*		No	ClinGen TOPMed
rs1478961337 CA360885384	263	E>A		No	ClinGen gnomAD
CA3385474 rs762082049	263	E>Q		No	ClinGen ExAC gnomAD
rs371199920 CA3385475	264	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3385494 rs769233216	267	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3385496 rs761992076	268	P>T		No	ClinGen ExAC gnomAD
TCGA novel	270	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360885466 rs1301837595	274	Q>E		No	ClinGen gnomAD
CA3385497 rs772366081	275	A>G		No	ClinGen ExAC gnomAD
CA360885510 rs1260151287	281	I>V		No	ClinGen gnomAD
rs1451939678 CA360885549	286	N>S		No	ClinGen gnomAD
CA360885566 rs1235950050	288	A>V		No	ClinGen gnomAD
rs959657860 CA125955432	289	A>T		No	ClinGen TOPMed
TCGA novel	289	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3385502 rs141703385	290	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs139921480 CA3385500	290	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs528974683 CA3385499	290	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1362704067 CA360885594	293	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3385504 rs752143195	295	M>T		No	ClinGen ExAC
CA3385505 rs757888767	296	T>I		No	ClinGen ExAC
rs777333704 CA3385506	297	I>V		No	ClinGen ExAC TOPMed gnomAD
rs111388443 CA125955459	299	M>V		No	ClinGen TOPMed
CA360885644 rs1162534416	300	N>S		No	ClinGen TOPMed gnomAD
CA125955465 rs866050848	302	S>L		No	ClinGen gnomAD
rs751183435 CA3385507	302	S>T		No	ClinGen ExAC gnomAD
rs866050848 CA360885659	302	S>W		No	ClinGen gnomAD
rs780232720 CA3385509	303	D>G		No	ClinGen ExAC gnomAD
rs942583097 CA125955471	303	D>N		No	ClinGen TOPMed
CA360885690 rs1319708427	305	W>*		No	ClinGen gnomAD
rs754096951 CA3385529	306	F>L		No	ClinGen ExAC gnomAD
rs755360049 CA3385530	310	Q>H		No	ClinGen ExAC gnomAD
rs373778409 CA3385531	312	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1284086475 CA360885755	314	E>Q		No	ClinGen gnomAD
rs1340739949 CA360885764	315	N>Y		No	ClinGen TOPMed gnomAD
CA3385534 rs777956116	317	D>H		No	ClinGen ExAC gnomAD
rs1192653034 CA360885869	326	S>R		No	ClinGen TOPMed
rs367637115 CA3385536	327	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs762907221 CA125955612	327	V>F		No	ClinGen Ensembl
CA3385537 rs776897787	329	A>S		No	ClinGen ExAC TOPMed gnomAD
CA360885921 rs776897787	329	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1127846 CA125955618	331	V>F		No	ClinGen gnomAD
CA125955619 rs982191229	332	C>Y		No	ClinGen Ensembl
CA3385538 rs746141631	333	H>P		No	ClinGen ExAC gnomAD
CA360886012 rs1353280446	334	R>G		No	ClinGen gnomAD
CA125955624 rs189518915	335	K>R		No	ClinGen 1000Genomes TOPMed
rs1220918156 CA360886127	336	E>G		No	ClinGen gnomAD
CA360886133 rs1304114280	337	L>F		No	ClinGen gnomAD
rs768527618 CA3385564	343	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	347	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3385565 rs774261611	354	S>F		No	ClinGen ExAC TOPMed
CA360886259 rs1254761416	356	D>Y		No	ClinGen TOPMed
COSM1737413 rs1214611596 CA360886275	358	T>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA360886281 rs767029285	359	A>P		No	ClinGen ExAC gnomAD
CA3385567 rs767029285	359	A>T		No	ClinGen ExAC gnomAD
CA3385570 rs766130395	365	S>C		No	ClinGen ExAC gnomAD
rs1802375 CA125956242	366	Q>R		No	ClinGen Ensembl
rs1257755261 CA360886401	368	A>V		No	ClinGen TOPMed
CA125956246 rs375160918	370	V>I		No	ClinGen ESP TOPMed
CA3385572 rs753052986	371	E>G		No	ClinGen ExAC gnomAD
rs540992479 CA125956273	372	E>D		No	ClinGen 1000Genomes
rs758822766 CA3385573	372	E>G		No	ClinGen ExAC gnomAD
rs764618088 CA3385574	373	K>E		No	ClinGen ExAC gnomAD
CA3385576 rs757754866	374	I>T		No	ClinGen ExAC gnomAD
rs113054882 CA3385575	374	I>V		No	ClinGen ExAC gnomAD
CA3385577 rs139381831	378	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1284695220 CA360886573	379	Q>E		No	ClinGen TOPMed
rs1239604827 CA360886583	379	Q>R		No	ClinGen TOPMed
CA3385579 rs756262372	382	A>G		No	ClinGen ExAC TOPMed gnomAD
rs780272423 CA3385580	383	F>S		No	ClinGen ExAC gnomAD
CA125956297 rs1044463	384	A>S		No	ClinGen Ensembl
rs1227496348 CA360886695	386	F>V		No	ClinGen TOPMed
rs749573418 CA3385581	387	Y>C		No	ClinGen ExAC gnomAD
rs180823037 CA3385583	388	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA360886711 rs1222888042	388	M>R		No	ClinGen gnomAD
rs1355903917 CA360886738	392	L>I		No	ClinGen TOPMed
CA360886744 rs1327523892	393	L>F		No	ClinGen gnomAD
CA125956313 rs369355196	394	S>R		No	ClinGen ESP TOPMed
CA3385584 rs748065975	397	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA360886780 rs1214720406	398	R>C		No	ClinGen gnomAD
rs186221644 CA125956319	398	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA3385585 rs771931984	400	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1298871499 CA360886790	400	I>V		No	ClinGen TOPMed
CA360886835 rs1561478223	405	G>D		No	ClinGen Ensembl
CA3385609 rs200308921	405	G>S		No	ClinGen ExAC TOPMed gnomAD
CA360886840 rs1409231685	406	V>L		No	ClinGen gnomAD
CA3385610 COSM1227059 rs370224428	410	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3385612 rs759217327	411	M>I		No	ClinGen ExAC
CA3385611 rs776328314	411	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	417	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	419	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	420	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	420	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769364783 CA3385613	420	A>V		No	ClinGen ExAC gnomAD
rs1292330330 CA360886951	421	Q>E		No	ClinGen TOPMed gnomAD
CA360886959 rs1222217221	422	I>F		No	ClinGen TOPMed
rs1230094010 CA360886961	422	I>N		No	ClinGen gnomAD
CA125959529 rs377633295	423	T>A		No	ClinGen ESP gnomAD
CA125959534 rs946389776	425	L>P		No	ClinGen TOPMed gnomAD
rs1235888049 CA360886986	426	K>R		No	ClinGen TOPMed
rs1332422745 CA360886993	427	K>T		No	ClinGen TOPMed
CA3385616 rs767986710	428	R>C		No	ClinGen ExAC gnomAD
CA3385617 rs370738644	428	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3385618 rs374379233	430	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1255697203 CA360887023	432	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377666364 CA3385620	433	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3385621 rs755123716	434	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1373425351 CA360887045	435	M>V		No	ClinGen gnomAD
rs1581648889 CA360887057 COSM230065	436	V>A	NS [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	437	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	438	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA125959575 rs779012736	440	P>S		No	ClinGen ExAC gnomAD
CA3385622 rs779012736	440	P>T		No	ClinGen ExAC gnomAD
rs753017526 CA3385623	441	D>N		No	ClinGen ExAC gnomAD
rs1396769729 CA562314284	443	I>*		No	ClinGen gnomAD
CA360887102 rs1434824496	443	I>V		No	ClinGen TOPMed gnomAD
CA3385624 rs758122825	446	A>T		No	ClinGen ExAC gnomAD
rs777663434 CA3385625	446	A>V		No	ClinGen ExAC gnomAD
CA360887130 rs1581648912	447	K>T		No	ClinGen Ensembl
rs1440814733 CA360887192	453	W>*		No	ClinGen gnomAD
CA3385654 rs757196187	455	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3385657 rs755578490	457	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3385656 rs745858910	457	V>L		No	ClinGen ExAC gnomAD
CA360887215 rs745858910	457	V>M		No	ClinGen ExAC gnomAD
rs779659679 CA3385658	459	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	461	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	466	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360887288 rs1192908672	467	I>V		No	ClinGen gnomAD
CA3385661 rs773495760	468	S>C		No	ClinGen ExAC gnomAD
CA3385662 rs149951629	470	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762094497 CA3385665	472	R>Q	Variant assessed as Somatic; 0.0005082 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765209600 CA3385666	475	V>L		No	ClinGen ExAC TOPMed gnomAD
CA360887350 rs1260962175	477	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	477	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3385683 rs761794122	480	K>N		No	ClinGen ExAC TOPMed gnomAD
CA3385684 rs746311148	481	E>Q		No	ClinGen ExAC gnomAD
CA3385686 rs775366501	482	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1228046187 CA360887409	483	V>A		No	ClinGen gnomAD
rs1309253525 CA360887405	483	V>M		No	ClinGen gnomAD
rs768917490 CA3385688	485	D>N		No	ClinGen ExAC TOPMed gnomAD
rs774712258 CA3385689	485	D>V		No	ClinGen ExAC gnomAD
TCGA novel	486	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3385690 rs762169819	487	K>R		No	ClinGen ExAC gnomAD
CA3385691 rs767400859	488	T>S		No	ClinGen ExAC gnomAD
CA3385693 COSM300719 rs760493667	489	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs200347049 CA125960227	490	I>L		No	ClinGen 1000Genomes gnomAD
CA360887452 rs1388810103	490	I>N		No	ClinGen TOPMed gnomAD
rs1388810103 CA360887454	490	I>T		No	ClinGen TOPMed gnomAD
rs200347049 CA360887451	490	I>V		No	ClinGen 1000Genomes gnomAD
CA360887457 rs1436680499	491	I>V		No	ClinGen gnomAD
rs375660293 CA125960231	492	K>R		No	ClinGen ESP TOPMed gnomAD
CA3385694 rs766350588	493	Y>C		No	ClinGen ExAC gnomAD
CA360887499 rs1300922293	497	L>V		No	ClinGen gnomAD
CA360887503 rs1215129713	498	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs754478134 CA3385696	499	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA360887539 rs1339906023	503	Q>*		No	ClinGen gnomAD
rs1378712041 CA360887561	504	L>P		No	ClinGen gnomAD
CA360887558 rs1285935041	504	L>V		No	ClinGen gnomAD
CA3385716 rs753775412	507	Y>S		No	ClinGen ExAC gnomAD
CA360887591 rs1266619177	508	W>*		No	ClinGen gnomAD
TCGA novel	508	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	509	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194778591 CA360887623	513	P>T		No	ClinGen gnomAD
rs1252492130 CA360887644	516	K>R		No	ClinGen TOPMed gnomAD
CA360887649 rs1477099564	517	A>T		No	ClinGen gnomAD
CA360887667 rs1178967050	519	A>V		No	ClinGen gnomAD
rs1408992689 CA360887670	520	A>Q		No	ClinGen gnomAD

No associated diseases with O60749

3 regional properties for O60749

Type	Name	Position	InterPro Accession
domain	Phox homology	56 - 187	IPR001683
domain	Sorting nexin 4, PX domain	58 - 184	IPR034902
domain	Sorting nexin-4, BAR domain	205 - 448	IPR037430

Functions

		Description
EC Number
Subcellular Localization	Early endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Cell projection, lamellipodium	Colocalized with SORT1 to tubular endosomal membrane structures called endosome-to-TGN transport carriers (ETCs) which are budding from early endosome vacuoles just before maturing into late endosome vacuoles (PubMed:18088323) Colocalized with F-actin at the leading edge of lamellipodia in cells in a KALRN-dependent manner (PubMed:20604901)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 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.
early endosome membrane	The lipid bilayer surrounding an early endosome.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane	The lipid bilayer surrounding an endosome.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
retromer complex	A conserved hetero-pentameric membrane-associated complex involved in retrograde transport from endosomes to the Golgi apparatus. The budding yeast retromer comprises Vps35p, Vps29p, Vps26p, Vps5p, and Vps17p. The mammalian complex shows slight variation in composition compared to yeast, and comprises SNX1 or SNX2, SNX5 or SNX6, VPS26A or VPS26B, VPS29, and VPS35.
retromer, tubulation complex	The dimeric subcomplex of the retromer, believed to be peripherally associated with the membrane. This dimeric complex is responsible for remodelling endosomal membranes to form a tube-structure to which cargo molecules are selected for recycling. The budding yeast complex comprises Vps5p and Vps17p, and may contain multiple copies of a Vps5p/Vps17p dimer. The mammalian complex contains SNX1 or SNX2 dimerized with SNX5 or SNX6.

9 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
epidermal growth factor receptor binding	Binding to an epidermal growth factor receptor.
identical protein binding	Binding to an identical protein or proteins.
insulin receptor binding	Binding to an insulin receptor.
leptin receptor binding	Binding to a leptin receptor.
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
transferrin receptor binding	Binding to a transferrin receptor.

5 GO annotations of biological process

Name	Definition
early endosome to Golgi transport	The directed movement of substances from early endosomes to the Golgi.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
lamellipodium morphogenesis	A process that is carried out at the cellular level and in which the structure of a lamellipodium is organized.
retrograde transport, endosome to Golgi	The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q05B62	SNX1	Sorting nexin-1	Bos taurus (Bovine)	PR
Q3ZBM5	SNX5	Sorting nexin-5	Bos taurus (Bovine)	PR
O95219	SNX4	Sorting nexin-4	Homo sapiens (Human)	PR
Q13596	SNX1	Sorting nexin-1	Homo sapiens (Human)	PR
Q9Y5X3	SNX5	Sorting nexin-5	Homo sapiens (Human)	PR
Q9WV80	Snx1	Sorting nexin-1	Mus musculus (Mouse)	PR
Q9CWK8	Snx2	Sorting nexin-2	Mus musculus (Mouse)	PR
Q99N27	Snx1	Sorting nexin-1	Rattus norvegicus (Rat)	PR
Q9FG38	SNX1	Sorting nexin 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAAEREPPPL	GDGKPTDFED	LEDGEDLFTS	TVSTLESSPS	SPEPASLPAE	DISANSNGPK
70	80	90	100	110	120
PTEVVLDDDR	EDLFAEATEE	VSLDSPEREP	ILSSEPSPAV	TPVTPTTLIA	PRIESKSMSA
130	140	150	160	170	180
PVIFDRSREE	IEEEANGDIF	DIEIGVSDPE	KVGDGMNAYM	AYRVTTKTSL	SMFSKSEFSV
190	200	210	220	230	240
KRRFSDFLGL	HSKLASKYLH	VGYIVPPAPE	KSIVGMTKVK	VGKEDSSSTE	FVEKRRAALE
250	260	270	280	290	300
RYLQRTVKHP	TLLQDPDLRQ	FLESSELPRA	VNTQALSGAG	ILRMVNKAAD	AVNKMTIKMN
310	320	330	340	350	360
ESDAWFEEKQ	QQFENLDQQL	RKLHVSVEAL	VCHRKELSAN	TAAFAKSAAM	LGNSEDHTAL
370	380	390	400	410	420
SRALSQLAEV	EEKIDQLHQE	QAFADFYMFS	ELLSDYIRLI	AAVKGVFDHR	MKCWQKWEDA
430	440	450	460	470	480
QITLLKKREA	EAKMMVANKP	DKIQQAKNEI	REWEAKVQQG	ERDFEQISKT	IRKEVGRFEK
490	500	510
ERVKDFKTVI	IKYLESLVQT	QQQLIKYWEA	FLPEAKAIA