AiPD: Autoinhibited Protein Database

P0CK96

Gene name	SLC35E2B (KIAA0447)
Protein name	Solute carrier family 35 member E2B
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:728661
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-55 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-55 (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 P0CK96

Entry ID	Method	Resolution	Chain	Position	Source
AF-P0CK96-F1	Predicted				AlphaFoldDB

320 variants for P0CK96

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA337915139 rs1172982026	2	S>L		No	ClinGen TOPMed gnomAD
rs1357618719 CA337915160	2	S>P		No	ClinGen TOPMed gnomAD
CA16801894 rs938656330	4	S>*		No	ClinGen TOPMed gnomAD
CA337915086 rs938656330	4	S>L		No	ClinGen TOPMed gnomAD
rs1422925497 CA337915104	4	S>P		No	ClinGen gnomAD
CA337915079 rs1283492188	5	V>M		No	ClinGen TOPMed
rs1228240075 CA337914962	8	P>A		No	ClinGen gnomAD
CA337914853 rs1221966871	11	E>D		No	ClinGen TOPMed
CA337914838 rs1357877660	12	E>G		No	ClinGen TOPMed
CA337914751 rs1444609724	16	G>A		No	ClinGen TOPMed gnomAD
rs927259765 CA16801888	16	G>R		No	ClinGen TOPMed gnomAD
CA337914744 rs1444609724	16	G>V		No	ClinGen TOPMed gnomAD
CA337914740 rs1399679168	17	S>P		No	ClinGen gnomAD
CA337914693 rs1459675188	18	E>*		No	ClinGen TOPMed gnomAD
CA337914713 rs1459675188	18	E>K		No	ClinGen TOPMed gnomAD
CA337914633 rs1347893934	20	K>Q		No	ClinGen TOPMed gnomAD
rs1163877968 CA337914568	21	P>L		No	ClinGen gnomAD
CA337914578 rs1399411593	21	P>S		No	ClinGen TOPMed
CA337914520 rs1382023168	24	R>G		No	ClinGen TOPMed gnomAD
CA337914519 rs1176735244	24	R>K		No	ClinGen gnomAD
CA337914493 rs1438489174	25	S>L		No	ClinGen gnomAD
CA337914487 rs1192567853	26	P>A		No	ClinGen gnomAD
rs1487335158 CA337914351	30	G>A		No	ClinGen gnomAD
CA337914241 rs1488495888	36	R>Q		No	ClinGen TOPMed
rs1045029510 CA16801887	39	K>T		No	ClinGen TOPMed gnomAD
rs1453297136 CA337914136	40	I>V		No	ClinGen TOPMed
CA337914052 rs1354912478	43	A>T		No	ClinGen gnomAD
rs1288725739 CA337914035	44	K>E		No	ClinGen TOPMed gnomAD
CA337914005 rs1279708502	45	S>G		No	ClinGen TOPMed
CA337913983 rs1335212794	46	D>N		No	ClinGen TOPMed gnomAD
rs1335212794 CA337913981	46	D>Y		No	ClinGen TOPMed gnomAD
rs1388725087 CA337913952	47	G>S		No	ClinGen TOPMed gnomAD
rs567636491 CA529789	48	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA337913901 rs1420041620	50	D>Y		No	ClinGen gnomAD
rs777412211 CA529788	53	V>A		No	ClinGen ExAC
rs1156743701 CA337913840	53	V>I		No	ClinGen TOPMed gnomAD
CA529786 rs748078269	56	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1184632194 CA337913732	59	T>M		No	ClinGen TOPMed
CA337913722 rs1193967391	60	E>G		No	ClinGen TOPMed gnomAD
rs778822314 CA529785	61	T>I		No	ClinGen ExAC TOPMed gnomAD
CA337913669 rs1198696817	65	E>K		No	ClinGen TOPMed
CA337913492 rs1257108093	71	W>*		No	ClinGen gnomAD
CA337913381 rs1235422312	73	S>L		No	ClinGen TOPMed gnomAD
rs923664725 CA16801858	74	R>Q		No	ClinGen TOPMed gnomAD
rs756125270 CA337913368	74	R>W		No	ClinGen ExAC TOPMed gnomAD
CA337913342 rs1342106096	75	A>V		No	ClinGen gnomAD
rs1447719356 CA337913309	77	L>F		No	ClinGen TOPMed gnomAD
rs1570330566 CA337913297	78	Y>S		No	ClinGen Ensembl
CA16801856 rs954407411	80	T>M		No	ClinGen TOPMed
CA337913183 rs1174281999	82	W>S		No	ClinGen gnomAD
TCGA novel	87	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376627837 CA337912990	89	T>A		No	ClinGen TOPMed gnomAD
rs767736645 CA529782	89	T>M		No	ClinGen ExAC TOPMed gnomAD
CA16801855 rs1028608132	91	F>L		No	ClinGen TOPMed
rs1478635493 CA337912893	92	L>H		No	ClinGen gnomAD
rs1478635493 CA337912890	92	L>P		No	ClinGen gnomAD
rs1570330426 CA337912817	95	Y>C		No	ClinGen Ensembl
CA337912719 rs1446786444	99	L>P		No	ClinGen gnomAD
CA337912660 rs1257431496	101	G>R		No	ClinGen gnomAD
CA337912609 rs1482303866	103	E>K		No	ClinGen gnomAD
rs1262632719 CA337912534	106	M>T		No	ClinGen gnomAD
CA529762 rs764425754	109	A>V		No	ClinGen ExAC gnomAD
rs1381437048 CA529759	111	Q>R		No	ClinGen TOPMed
rs753145053 CA529758	115	T>I		No	ClinGen ExAC gnomAD
rs765739601 CA529757	116	T>A		No	ClinGen ExAC TOPMed gnomAD
CA529756 rs759941666	116	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771731222 CA529751	119	G>E		No	ClinGen ExAC TOPMed gnomAD
CA529752 CA337912188 rs772790748	119	G>R		No	ClinGen ExAC TOPMed gnomAD
rs747895858 CA529750	120	C>R		No	ClinGen ExAC gnomAD
rs1332398445 CA337912158	120	C>Y		No	ClinGen gnomAD
rs774098330 CA529749	125	V>I		No	ClinGen ExAC TOPMed gnomAD
CA337912059 rs1241185135	126	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1365402823 CA337912043	127	C>Y		No	ClinGen gnomAD
CA529747 rs749168311	131	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA337911954 rs1326985346	132	H>Y		No	ClinGen gnomAD
rs1405872240 CA337911928	133	K>E		No	ClinGen gnomAD
CA16801726 rs1057468133	134	A>V		No	ClinGen TOPMed gnomAD
CA337911897 rs1478398339	135	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA337911887 rs1557758580	136	L>V		No	ClinGen Ensembl
CA529745 rs770848810	138	Y>C		No	ClinGen ExAC gnomAD
rs747134372 CA529744	141	N>S		No	ClinGen ExAC gnomAD
rs753020140 CA529741	143	L>F		No	ClinGen ExAC gnomAD
CA337911746 rs1570329482	144	M>L		No	ClinGen Ensembl
CA337911739 rs1391448235	144	M>T		No	ClinGen TOPMed gnomAD
CA529739 rs755440126	145	T>M		No	ClinGen ExAC TOPMed gnomAD
rs755440126 CA529740	145	T>R		No	ClinGen ExAC TOPMed gnomAD
CA337911687 rs1320321671	146	M>I		No	ClinGen TOPMed
rs775243041 CA529729	156	T>A		No	ClinGen ExAC gnomAD
rs769802573 CA529728	156	T>I		No	ClinGen ExAC gnomAD
CA337911427 rs1449453647	157	V>A		No	ClinGen gnomAD
rs559481478 CA529726	162	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA337911271 rs1469366257	164	L>P		No	ClinGen gnomAD
CA337911224 rs1401253943	166	N>K		No	ClinGen gnomAD
CA337911229 rs1570328518	166	N>S		No	ClinGen Ensembl
rs748379935 CA529724	168	A>V		No	ClinGen ExAC TOPMed gnomAD
CA529722 rs755244665	169	V>G		No	ClinGen ExAC gnomAD
CA337911177 rs1182374930	169	V>I		No	ClinGen TOPMed gnomAD
rs1182374930 CA337911178	169	V>L		No	ClinGen TOPMed gnomAD
rs1241215880 CA337911165	170	S>L		No	ClinGen gnomAD
rs1457845097 CA337911123	172	A>S		No	ClinGen gnomAD
TCGA novel	172	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs905915292 CA16801540	173	E>D		No	ClinGen TOPMed
rs756610571 CA337911077	174	T>K		No	ClinGen ExAC TOPMed gnomAD
CA529719 rs756610571	174	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1570328357 CA337911056	175	V>G		No	ClinGen Ensembl
rs750975642 CA529718	178	S>F		No	ClinGen ExAC gnomAD
rs761379092 CA529716	179	A>T		No	ClinGen ExAC gnomAD
CA337910951 rs1313558279	180	P>S		No	ClinGen gnomAD
rs1313558279 CA337910956	180	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA529715 rs548945097	181	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1333582549 CA337910917	182	F>S		No	ClinGen gnomAD
CA337910896 rs1353698965	183	T>M		No	ClinGen TOPMed gnomAD
CA337910910 rs1460720136	183	T>P		No	ClinGen gnomAD
rs1406886900 CA337910891	184	V>M		No	ClinGen gnomAD
CA529713 rs529183707	185	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764991297 CA529711	186	M>I		No	ClinGen ExAC TOPMed gnomAD
CA529712 rs775325163	186	M>T		No	ClinGen ExAC gnomAD
rs1395633039 CA337910842	186	M>V		No	ClinGen TOPMed
rs759535910 CA529710	187	S>P		No	ClinGen ExAC TOPMed gnomAD
CA529707 rs748247356	188	R>L		No	ClinGen ExAC TOPMed gnomAD
rs748247356 CA529708	188	R>P		No	ClinGen ExAC TOPMed gnomAD
rs748247356 CA337910789	188	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA529709 rs776774099	188	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1235610925 CA337910784	189	M>V		No	ClinGen gnomAD
rs1230813836 CA337910766	190	I>F		No	ClinGen TOPMed
CA337910727 rs1486825164	193	E>Q		No	ClinGen TOPMed
rs1570328127 CA337910674	194	Y>S		No	ClinGen Ensembl
CA337910653 rs1570328110	195	T>P		No	ClinGen Ensembl
CA529705 rs768957567	196	G>R		No	ClinGen ExAC TOPMed gnomAD
CA529674 rs528339041	198	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA337908174 rs764806836	199	V>A		No	ClinGen ExAC TOPMed gnomAD
CA529673 rs764806836	199	V>D		No	ClinGen ExAC TOPMed gnomAD
CA337908169 rs1189984786	200	N>H		No	ClinGen TOPMed
CA337908156 rs781032424	200	N>S		No	ClinGen TOPMed gnomAD
rs781032424 CA16798989	200	N>T		No	ClinGen TOPMed gnomAD
CA337908126 rs1324489994	202	S>P		No	ClinGen gnomAD
CA337907945 rs1478338267	207	M>T		No	ClinGen gnomAD
rs1170981842 CA337907951	207	M>V		No	ClinGen gnomAD
rs1570319499 CA337907926	208	G>S		No	ClinGen Ensembl
rs1003468614 CA16798976	209	G>R		No	ClinGen TOPMed gnomAD
rs906419487 CA16798968	211	A>T		No	ClinGen TOPMed
rs1428498317 CA337907847	211	A>V		No	ClinGen TOPMed gnomAD
rs1185421030 CA337907844	212	L>P		No	ClinGen gnomAD
CA337907824 rs1310551469	213	C>R		No	ClinGen TOPMed
CA337907816 rs1460060206	213	C>Y		No	ClinGen gnomAD
rs1262692757 CA337907783	214	T>M		No	ClinGen TOPMed gnomAD
rs1262692757 CA337907784	214	T>R		No	ClinGen TOPMed gnomAD
CA529671 rs200687631	215	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA337907747 rs1249462707	217	E>D		No	ClinGen gnomAD
rs1053507205 CA337907740	218	I>L		No	ClinGen TOPMed gnomAD
CA16798954 rs1053507205	218	I>V		No	ClinGen TOPMed gnomAD
rs1340924408 CA337907721	219	S>C		No	ClinGen gnomAD
rs1165397094 CA337907629	224	G>E		No	ClinGen TOPMed
rs1368230572 CA337907572	227	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA337907566 rs923619381	228	A>S		No	ClinGen TOPMed gnomAD
rs923619381 CA16798945	228	A>T		No	ClinGen TOPMed gnomAD
rs1399062753 CA337907555	228	A>V		No	ClinGen gnomAD
rs1369509476 CA337907526	231	T>A		No	ClinGen gnomAD
CA337907497 rs1185989846	232	N>K		No	ClinGen TOPMed gnomAD
CA16798934 rs1051347149	234	M>T		No	ClinGen TOPMed gnomAD
rs933587902 CA16798925	236	C>Y		No	ClinGen TOPMed
rs1233571248 CA337906526	237	L>F		No	ClinGen TOPMed gnomAD
CA337906472 rs1557753163	240	V>L		No	ClinGen Ensembl
TCGA novel	242	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337906430 rs1570316014	243	K>E		No	ClinGen Ensembl
CA16796430 rs978974337	244	K>N		No	ClinGen TOPMed
TCGA novel	245	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1427990499 CA337906381	245	L>V		No	ClinGen TOPMed
CA337906301 rs1400424046	248	G>E		No	ClinGen gnomAD
rs1448463778 CA337906308	248	G>W		No	ClinGen gnomAD
rs1173989766 CA337906284	249	D>A		No	ClinGen TOPMed
rs771550055 CA529656	251	Y>H		No	ClinGen ExAC
rs373497506 CA529655	254	S>L		No	ClinGen ESP ExAC gnomAD
rs1374279593 CA337905926	255	A>V		No	ClinGen TOPMed gnomAD
CA529633 rs199596545	256	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1353745837 CA337905768	259	Q>*		No	ClinGen gnomAD
rs1426532672 CA337905750	259	Q>H		No	ClinGen gnomAD
rs566058136 CA337905733	260	F>I		No	ClinGen 1000Genomes ExAC gnomAD
CA337905729 rs1162309393	260	F>S		No	ClinGen gnomAD
rs566058136 CA529631	260	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA337905705 rs1176755885	261	Y>C		No	ClinGen gnomAD
CA337905681 rs1409646949	262	T>I		No	ClinGen gnomAD
CA337905695 rs1570315113	262	T>P		No	ClinGen Ensembl
CA337905653 rs1479845911	264	A>T		No	ClinGen gnomAD
CA337905623 rs1223865144	265	A>T		No	ClinGen TOPMed gnomAD
CA16796175 rs897719870	266	A>V		No	ClinGen TOPMed
CA337905535 rs1300588173	268	A>V		No	ClinGen TOPMed
CA16796172 rs1014115975	269	M>I		No	ClinGen TOPMed
rs527702193 CA529625	271	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA529626 rs527702193	271	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1222346552 CA337905430	272	P>L		No	ClinGen TOPMed gnomAD
rs1222346552 CA337905437	272	P>R		No	ClinGen TOPMed gnomAD
rs1289375457 CA337905396	273	A>V		No	ClinGen gnomAD
rs1406554894 CA337905387	274	R>Q		No	ClinGen gnomAD
rs1283615430 CA337905391	274	R>W		No	ClinGen TOPMed gnomAD
rs1437028473 CA337905347	277	F>L		No	ClinGen TOPMed
CA529623 rs117820608	278	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA529598 rs774943209	279	D>V		No	ClinGen ExAC
rs762246071 CA529599	279	D>Y		No	ClinGen ExAC gnomAD
rs1382934456 CA337904179	280	V>I		No	ClinGen TOPMed gnomAD
CA529594 rs769403176	282	V>G		No	ClinGen ExAC gnomAD
rs574748107 CA529595	282	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200570843 CA529593	283	I>V		No	ClinGen ExAC TOPMed gnomAD
CA529591 CA529590 rs746825617	284	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1169021217 CA337903986	285	R>M		No	ClinGen TOPMed gnomAD
CA337903958 rs1570312724	286	S>N		No	ClinGen Ensembl
CA337903952 rs2072923 CA337903934	286	S>R		No	ClinGen ExAC TOPMed gnomAD
CA529587 rs748129505	287	G>E		No	ClinGen ExAC gnomAD
rs371970201 CA529588	287	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA529586 rs779987611	288	K>*		No	ClinGen ExAC gnomAD
CA16795346 rs374843767	288	K>R		No	ClinGen Ensembl
CA529584 rs750547118	289	S>N		No	ClinGen ExAC TOPMed gnomAD
CA337903828 rs781493691	289	S>R		No	ClinGen ExAC TOPMed gnomAD
CA529585 rs750547118	289	S>T		No	ClinGen ExAC TOPMed gnomAD
CA337903807 rs1341270868	290	F>V		No	ClinGen gnomAD
rs1249512460 CA337903770	291	S>G		No	ClinGen gnomAD
rs1359516813 CA337903752	292	Y>H		No	ClinGen gnomAD
CA529580 rs764593513	293	N>S		No	ClinGen ExAC TOPMed gnomAD
CA529579 rs368042065	295	D>E		No	ClinGen ESP ExAC gnomAD
rs764584341 CA529577	296	V>M		No	ClinGen ExAC TOPMed gnomAD
CA337903604 rs1392313333	297	V>L		No	ClinGen gnomAD
CA529574 rs770644820	300	L>P		No	ClinGen ExAC gnomAD
CA529571 rs772965517	301	L>R		No	ClinGen ExAC gnomAD
CA337903434 rs1368092350	302	T>R		No	ClinGen gnomAD
rs202089060 CA337903408	303	D>E		No	ClinGen ExAC gnomAD
CA529569 rs748076608	304	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1360693605 CA337903376	305	V>I		No	ClinGen TOPMed
CA337903334 rs1490473136	306	L>P		No	ClinGen gnomAD
CA529567 rs745984328	307	F>L		No	ClinGen ExAC gnomAD
rs946755371 CA16795288	310	Q>*		No	ClinGen TOPMed
CA337903156 rs12729295	312	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA529563 rs12729295	312	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA337903155 rs12729295	312	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA337903115 rs1286785714	313	T>A		No	ClinGen gnomAD
RCV000785717 rs778277949 CA529562	313	T>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA529560 rs753086217	314	A>S		No	ClinGen ExAC
CA529559 rs765795153	314	A>V		No	ClinGen ExAC TOPMed gnomAD
CA337903058 rs1390191932	315	Y>C		No	ClinGen gnomAD
CA529556 rs538722664	316	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1362282184 CA337903007	317	L>F		No	ClinGen gnomAD
rs1198890195 CA337902963	318	M>I		No	ClinGen TOPMed
CA337902992 rs1181135338	318	M>L		No	ClinGen gnomAD
rs200237814 CA529554	319	G>R		No	ClinGen ExAC gnomAD
rs772918833 CA529553	320	K>E		No	ClinGen ExAC TOPMed
CA16795228 rs892464780	320	K>N		No	ClinGen TOPMed
CA529552 rs771792354	321	I>V		No	ClinGen ExAC gnomAD
CA337902854 rs1557751095	322	S>C		No	ClinGen Ensembl
CA529551 rs761684335	323	P>L		No	ClinGen ExAC gnomAD
CA337902813 rs761684335	323	P>Q		No	ClinGen ExAC gnomAD
CA337902649 rs1228117285	327	S>I		No	ClinGen TOPMed gnomAD
CA337901864 rs1453729571	328	V>G		No	ClinGen gnomAD
CA16793769 rs923052477	328	V>I		No	ClinGen TOPMed gnomAD
CA529537 rs754356640	329	A>T		No	ClinGen ExAC TOPMed gnomAD
CA16793750 rs771780169	331	T>I		No	ClinGen TOPMed gnomAD
CA16793749 rs200790419	332	V>A		No	ClinGen TOPMed gnomAD
CA337901805 rs1447125641	332	V>M		No	ClinGen TOPMed gnomAD
CA337901760 rs1241038402	334	H>R		No	ClinGen TOPMed
rs867610765 CA16793748	336	L>F		No	ClinGen Ensembl
CA337901645 rs1208394641	340	L>F		No	ClinGen gnomAD
CA16793744 rs916896310	342	V>I		No	ClinGen TOPMed gnomAD
CA529532 rs560020082	343	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA16793726 rs543333170	344	V>F		No	ClinGen 1000Genomes TOPMed gnomAD
CA16793728 rs543333170	344	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs1557748887 CA337901554	345	F>L		No	ClinGen Ensembl
CA337901533 rs1385214158	346	G>D		No	ClinGen gnomAD
CA529530 rs114859950	346	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1166232629 CA337901519	347	N>S		No	ClinGen TOPMed
rs1446989026 CA337901494	349	I>N		No	ClinGen gnomAD
CA529529 rs762935324	352	L>F		No	ClinGen ExAC TOPMed gnomAD
rs184119053 CA16793723	353	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs1389484502 CA337901375	354	A>T		No	ClinGen gnomAD
CA337901325 rs1570307296	355	V>G		No	ClinGen Ensembl
CA529526 rs557853424	355	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1054436729 CA16793716	356	G>S		No	ClinGen TOPMed
rs541155330 CA337901246	358	A>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA16793713 rs541155330	358	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1018870672 CA16793711	358	A>V		No	ClinGen TOPMed gnomAD
rs1207761609 CA337901225	359	L>M		No	ClinGen TOPMed gnomAD
rs1570307212 CA337901196	360	V>G		No	ClinGen Ensembl
rs1274593712 CA337901169	361	T>I		No	ClinGen TOPMed gnomAD
CA529521 rs755361233	362	V>A		No	ClinGen ExAC gnomAD
rs140704937 CA529522	362	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs796387531 CA16793686	363	G>E		No	ClinGen TOPMed gnomAD
rs1570307122 CA337901084	364	V>G		No	ClinGen Ensembl
rs1349003767 CA337901105	364	V>I		No	ClinGen TOPMed
rs1162321574 CA337901061	366	L>F		No	ClinGen TOPMed
rs1460245759 CA337901024	367	Y>*		No	ClinGen TOPMed
rs749740257 CA529519	372	Q>H		No	ClinGen ExAC gnomAD
CA16793680 rs865845837	373	H>L		No	ClinGen Ensembl
CA337900819 rs780556613 CA529518	373	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA16793657 rs923060893	376	E>D		No	ClinGen TOPMed
CA16793665 rs994690465	376	E>G		No	ClinGen TOPMed gnomAD
CA337900723 rs1425968888	377	A>T		No	ClinGen gnomAD
CA16793653 rs569938232	377	A>V		No	ClinGen 1000Genomes gnomAD
rs1405456627 CA337900673	379	Q>*		No	ClinGen TOPMed
rs1405456627 CA337900678	379	Q>K		No	ClinGen TOPMed
rs1320218663 CA337900668	379	Q>P		No	ClinGen TOPMed
rs1409718919 CA337900654	380	S>R		No	ClinGen gnomAD
CA337900587 rs376454398	382	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA529515 rs376454398	382	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	383	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs79791328 CA16793641	383	A>P		No	ClinGen TOPMed gnomAD
CA337900564 rs79791328	383	A>T		No	ClinGen TOPMed gnomAD
CA337900524 rs1251243545	384	A>V		No	ClinGen TOPMed gnomAD
CA337900469 rs769751984	387	R>G		No	ClinGen TOPMed gnomAD
rs1263696580 CA337900466	387	R>P		No	ClinGen gnomAD
rs1263696580 CA337900468	387	R>Q		No	ClinGen gnomAD
CA16793634 rs769751984	387	R>W		No	ClinGen TOPMed gnomAD
rs745905266 CA529513	388	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1317701626 CA337900423	389	P>S		No	ClinGen gnomAD
CA337900368 CA337900369 rs539438648	390	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA529511 rs762669423	391	D>N		No	ClinGen ExAC TOPMed gnomAD
CA337900322 rs1349688911	392	T>I		No	ClinGen TOPMed gnomAD
rs1349688911 CA337900324	392	T>R		No	ClinGen TOPMed gnomAD
rs775518008 CA529510	393	V>A		No	ClinGen ExAC TOPMed gnomAD
rs765296565 CA529509	395	P>L		No	ClinGen ExAC TOPMed gnomAD
CA337900215 rs1380824851	399	Q>*		No	ClinGen gnomAD
rs1191764213 CA337900164	400	D>E		No	ClinGen TOPMed
rs1252482025 CA337900191	400	D>N		No	ClinGen TOPMed
TCGA novel	406	P>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with P0CK96

1 regional properties for P0CK96

Type	Name	Position	InterPro Accession
domain	Sugar phosphate transporter domain	74 - 368	IPR004853

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name	Definition
antiporter activity	Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out).

1 GO annotations of biological process

Name	Definition
blastocyst hatching	The hatching of the cellular blastocyst from the zona pellucida.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P0CK97	SLC35E2A	Solute carrier family 35 member E2A	Homo sapiens (Human)	PR
Q96K37	SLC35E1	Solute carrier family 35 member E1	Homo sapiens (Human)	PR
Q8CD26	Slc35e1	Solute carrier family 35 member E1	Mus musculus (Mouse)	PR
Q8C811	Slc35e2a	Solute carrier family 35 member E2A	Mus musculus (Mouse)	PR
Q8RXL8	UXT3	UDP-xylose transporter 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SRE4	URGT1	UDP-rhamnose/UDP-galactose transporter 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8H0T6	PPT2	Phosphoenolpyruvate/phosphate translocator 2, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SS40	At3g10290	Probable sugar phosphate/phosphate translocator At3g10290	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSSSVKTPAL	EELVPGSEEK	PKGRSPLSWG	SLFGHRSEKI	VFAKSDGGTD	ENVLTVTITE
70	80	90	100	110	120
TTVIESDLGV	WSSRALLYLT	LWFFFSFCTL	FLNKYILSLL	GGEPSMLGAV	QMLSTTVIGC
130	140	150	160	170	180
VKTLVPCCLY	QHKARLSYPP	NFLMTMLFVG	LMRFATVVLG	LVSLKNVAVS	FAETVKSSAP
190	200	210	220	230	240
IFTVIMSRMI	LGEYTGLLVN	LSLIPVMGGL	ALCTATEISF	NVLGFSAALS	TNIMDCLQNV
250	260	270	280	290	300
FSKKLLSGDK	YRFSAPELQF	YTSAAAVAML	VPARVFFTDV	PVIGRSGKSF	SYNQDVVLLL
310	320	330	340	350	360
LTDGVLFHLQ	SVTAYALMGK	ISPVTFSVAS	TVKHALSIWL	SVIVFGNKIT	SLSAVGTALV
370	380	390	400
TVGVLLYNKA	RQHQQEALQS	LAAATGRAPD	DTVEPLLPQD	PRQHP