AiPD: Autoinhibited Protein Database

Q8IZ40

Gene name	RCOR2
Protein name	REST corepressor 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:283248
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-71 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-71 (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 Q8IZ40

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IZ40-F1	Predicted				AlphaFoldDB

401 variants for Q8IZ40

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA381043530 rs1417285633	2	P>L		No	ClinGen Ensembl
rs754468663 CA6066373	2	P>S		No	ClinGen ExAC gnomAD
CA381043539 rs754468663	2	P>T		No	ClinGen ExAC gnomAD
CA381043518 rs1368146608	3	S>L		No	ClinGen gnomAD
rs1297600997 CA381043516	4	V>M		No	ClinGen gnomAD
CA6066370 rs573627310	5	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs542345922 CA6066371	5	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751913331 CA6066369	6	E>K		No	ClinGen ExAC gnomAD
CA381043486 rs751913331	6	E>Q		No	ClinGen ExAC gnomAD
rs1419207228 CA381043445	8	P>L		No	ClinGen TOPMed
rs772745604 CA223763793	8	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6066368 rs764640105	9	S>G		No	ClinGen ExAC gnomAD
rs763425952 CA6066367	9	S>R		No	ClinGen ExAC gnomAD
CA381043428 rs1480484973	10	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1268649035 CA381043423	10	A>V		No	ClinGen gnomAD
rs1479842879 CA381043389	13	G>A		No	ClinGen gnomAD
rs372768915 CA223763761	14	I>F		No	ClinGen ESP TOPMed gnomAD
rs775682588 CA6066366	16	S>C		No	ClinGen ExAC
CA381043349 rs1303627722	17	R>G		No	ClinGen TOPMed
rs1323022161 CA381043345	17	R>H		No	ClinGen gnomAD
CA381043318 rs1590736991	19	R>Q		No	ClinGen Ensembl
CA6066363 rs776736781	21	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6066361 rs746869242	24	P>H		No	ClinGen ExAC TOPMed gnomAD
CA381043267 rs1590736979	25	N>S		No	ClinGen Ensembl
rs1409618587 CA381043263	26	G>S		No	ClinGen Ensembl
rs1461630544 CA381043255	27	G>E		No	ClinGen gnomAD
CA223763686 rs964515577	27	G>R		No	ClinGen Ensembl
rs200098023 CA6066358	28	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6066357 rs778860056	28	Q>H		No	ClinGen ExAC gnomAD
COSM107373 rs149356483 CA223763638	29	P>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs867892494 CA223763639	29	P>S		No	ClinGen Ensembl
rs754458985 CA6066356	30	H>Y		No	ClinGen ExAC gnomAD
CA381043221 rs1158987181	33	D>N		No	ClinGen gnomAD
rs1417796119 CA381043215	33	D>V		No	ClinGen gnomAD
rs748764963 CA6066355	39	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	40	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1241528418 CA381043162	40	H>Y		No	ClinGen gnomAD
rs865780769 CA223763615	41	S>*		No	ClinGen gnomAD
rs865780769 CA381043152	41	S>L		No	ClinGen gnomAD
CA6066354 rs779635396	42	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1260169640 CA381043149	42	H>Y		No	ClinGen TOPMed gnomAD
rs1249232163 CA381043127	43	D>E		No	ClinGen TOPMed gnomAD
rs1338586675 CA381043130	43	D>G		No	ClinGen gnomAD
CA6066353 rs755746685	43	D>N		No	ClinGen ExAC TOPMed gnomAD
CA223763600 rs755746685	43	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA223763013 rs1034054539	44	S>C		No	ClinGen gnomAD
CA381043113 rs1282046504	45	M>I		No	ClinGen gnomAD
CA381043101 rs1402560675	47	R>C		No	ClinGen gnomAD
CA6066322 rs767780951	47	R>H		No	ClinGen ExAC gnomAD
CA223762999 COSM1355596 rs145688255	48	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs1316454591 CA381043085	50	T>S		No	ClinGen TOPMed
CA6066320 rs143904903	55	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1175710660 CA381043040	56	I>M		No	ClinGen gnomAD
CA381043038 rs1479533002	57	P>A		No	ClinGen gnomAD
CA223762947 rs1020053570	57	P>L		No	ClinGen gnomAD
CA381043019 rs1197372655	59	C>W		No	ClinGen gnomAD
rs1248094940 CA381043023	59	C>Y		No	ClinGen TOPMed gnomAD
rs768520668 CA381043018	60	K>E		No	ClinGen ExAC TOPMed gnomAD
CA381043012 rs1262136192	60	K>N		No	ClinGen gnomAD
CA6066319 rs768520668	60	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1325148177 CA381043004	62	E>K		No	ClinGen gnomAD
rs1415078935 CA381042982	63	S>N		No	ClinGen TOPMed
CA223762740 rs879218736	64	P>S		No	ClinGen Ensembl
CA6066308 rs780647315	65	A>T		No	ClinGen ExAC gnomAD
CA223762735 rs1020027121	66	R>C		No	ClinGen TOPMed gnomAD
CA381042963 rs1440042929	66	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA381042958 rs1181546861	67	Y>C		No	ClinGen gnomAD
CA381042919 rs1191771301	72	L>P		No	ClinGen gnomAD
rs756266534 CA6066307	76	L>P		No	ClinGen ExAC gnomAD
rs981994837 CA223762720	81	N>S		No	ClinGen TOPMed
CA223762711 rs988587130	82	H>Q		No	ClinGen Ensembl
CA381042841 rs1381545307	84	V>M		No	ClinGen gnomAD
rs949380796 CA223762704	89	L>F		No	ClinGen TOPMed gnomAD
CA6066294 rs746643156	94	A>V		No	ClinGen ExAC TOPMed gnomAD
CA223762468 rs949687258	95	M>T		No	ClinGen gnomAD
rs375233137 CA223762465	99	K>T		No	ClinGen ESP TOPMed
CA381042696 rs1590735811	102	Y>*		No	ClinGen Ensembl
COSM1263958 rs749597002 CA6066291	104	I>V	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs775970103	107	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1312646976 CA381042653	107	A>T		No	ClinGen gnomAD
CA223762313 rs201965783	107	A>V		No	ClinGen 1000Genomes gnomAD
rs1482288790 CA381042636	110	M>V		No	ClinGen TOPMed
rs1451399184 CA381042616	113	W>R		No	ClinGen gnomAD
rs757368709 CA6066268	119	E>D		No	ClinGen ExAC gnomAD
rs1191950846 CA381042547	119	E>Q		No	ClinGen TOPMed
CA223762270 rs972763804	120	K>E		No	ClinGen TOPMed gnomAD
rs778124432 CA6066266	122	L>V		No	ClinGen ExAC gnomAD
TCGA novel	123	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866613764 CA223762205	126	A>T		No	ClinGen Ensembl
rs1254356055 CA381042463	126	A>V		No	ClinGen gnomAD
rs1483658355 CA381042422	129	T>I		No	ClinGen gnomAD
rs1590735603 CA381042427	129	T>P		No	ClinGen Ensembl
rs753839767 CA6066261	134	E>K		No	ClinGen ExAC TOPMed gnomAD
rs370116723 CA223762187	137	V>I		No	ClinGen ESP TOPMed
TCGA novel	139	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355794605 CA381042241	140	K>T		No	ClinGen gnomAD
rs776113705 CA6066259	145	Q>*		No	ClinGen ExAC gnomAD
CA223762151 rs961353274	145	Q>R		No	ClinGen Ensembl
CA6066258 rs767244177	146	A>D		No	ClinGen ExAC TOPMed gnomAD
CA6066257 rs767244177	146	A>G		No	ClinGen ExAC TOPMed gnomAD
CA381042202 rs1314498457	146	A>P		No	ClinGen gnomAD
CA381042172 rs1235499120	150	H>R		No	ClinGen TOPMed
CA381042175 rs1360709037	150	H>Y		No	ClinGen gnomAD
TCGA novel	151	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	153	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1032111495 CA223762107	154	F>Y		No	ClinGen TOPMed
CA6066254 rs770303901	156	R>Q		No	ClinGen ExAC gnomAD
CA223762101 rs1015588420	156	R>W		No	ClinGen gnomAD
CA381042127 rs1265827392	157	I>F		No	ClinGen TOPMed
rs748170476 CA6066229	161	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6066228 rs779170374	163	D>Y		No	ClinGen ExAC gnomAD
CA381042059 rs1192509341	165	L>S		No	ClinGen TOPMed
rs1329890940 CA381042047	167	P>T		No	ClinGen gnomAD
rs377722799 CA6066227	171	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA381041992 rs1565161124	174	Y>*		No	ClinGen Ensembl
rs1590735419 CA381041949	179	T>P		No	ClinGen Ensembl
rs1420149842 CA381041932	180	R>H		No	ClinGen TOPMed
rs140081088 CA381041912	182	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs140081088 COSM263294 CA6066225	182	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA381041885 rs1565161106	185	V>L		No	ClinGen Ensembl
rs753674888 CA6066223	189	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs756830684 CA6066221	190	A>G		No	ClinGen ExAC gnomAD
CA6066220 rs751111421	191	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201796742 CA223761860	191	R>W	Variant assessed as Somatic; 9.274e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA381041803 rs1438931648	192	R>Q		No	ClinGen TOPMed gnomAD
rs763898573 CA6066219	192	R>W		No	ClinGen ExAC gnomAD
CA381041783 rs1235945067	194	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	195	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6066218 rs762492235	196	R>C		No	ClinGen ExAC gnomAD
rs754270221 CA6066217 COSM1298355	196	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs868425679 CA223761836	198	D>N		No	ClinGen Ensembl
CA6066216 rs766689607	200	E>D		No	ClinGen ExAC TOPMed
TCGA novel	202	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757890020 CA6066195	203	D>A		No	ClinGen ExAC TOPMed gnomAD
CA223761669 rs774904194	204	E>D		No	ClinGen ExAC gnomAD
rs1460261635 CA381041643	206	E>*		No	ClinGen TOPMed gnomAD
rs1460261635 CA381041644	206	E>Q		No	ClinGen TOPMed gnomAD
CA6066192 rs756441627	207	E>G		No	ClinGen ExAC TOPMed gnomAD
rs750770076 CA6066191	208	G>S		No	ClinGen ExAC TOPMed
rs762273099 CA6066189	209	R>G		No	ClinGen ExAC TOPMed gnomAD
rs199984646 CA6066188	209	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6066187 rs369985290	211	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358556288 CA381041616	211	G>S		No	ClinGen TOPMed gnomAD
rs1045550336 CA223761619	212	V>G		No	ClinGen Ensembl
rs375295805 CA6066186	212	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375295805 CA6066185	212	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs770049731 CA6066184	213	S>N		No	ClinGen ExAC gnomAD
rs770049731 CA381041605	213	S>T		No	ClinGen ExAC gnomAD
rs1014102129 CA223761611	214	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1161136307 CA381041591	215	G>E		No	ClinGen gnomAD
CA381041582 rs1473478346	216	E>D		No	ClinGen gnomAD
rs371327834 CA6066182	218	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6066181 rs371327834	218	D>N	Variant assessed as Somatic; 4.66e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6066180 rs746975542	221	D>G		No	ClinGen ExAC gnomAD
rs1488210493 CA381041556	221	D>N		No	ClinGen gnomAD
CA381041548 rs1219246807	222	P>A		No	ClinGen gnomAD
rs1226774197 CA381041532	224	R>T		No	ClinGen gnomAD
CA223761581 rs1031974706	225	E>G		No	ClinGen TOPMed gnomAD
rs535330387 CA6066178	225	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381041528 rs535330387	225	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381041509 rs1590735051	226	P>A		No	ClinGen Ensembl
CA6066159 rs778453300	226	P>L		No	ClinGen ExAC gnomAD
rs768007488 CA6066158	227	L>P		No	ClinGen ExAC gnomAD
CA6066156 rs779623588	228	P>L		No	ClinGen ExAC TOPMed gnomAD
CA381041498 rs779623588	228	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6066157 rs748957660	228	P>S		No	ClinGen ExAC gnomAD
CA381041501 rs748957660	228	P>T		No	ClinGen ExAC gnomAD
rs370485478 CA6066153	230	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs760637710 CA6066154 COSM1355592	230	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1590735033 CA381041479	232	L>P		No	ClinGen Ensembl
rs758917942 CA6066152	235	R>C		No	ClinGen ExAC TOPMed gnomAD
CA223761374 rs376063920	235	R>H		No	ClinGen ESP
rs976856713 CA223761368	237	G>R		No	ClinGen gnomAD
rs940205712 CA223761362	240	K>I		No	ClinGen gnomAD
rs940205712 CA381041429	240	K>T		No	ClinGen gnomAD
CA381041397 rs765390187	243	V>F		No	ClinGen ExAC gnomAD
rs765390187 CA6066150	243	V>I		No	ClinGen ExAC gnomAD
rs1205314194 CA381041387	244	Q>*		No	ClinGen gnomAD
rs1590734985 CA381041368	245	V>G		No	ClinGen Ensembl
CA381041343 rs1276485780	248	Y>H		No	ClinGen gnomAD
rs759640541 CA6066149	249	R>C		No	ClinGen ExAC TOPMed gnomAD
rs533046155 CA6066148	251	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA381041300 rs1393941906	252	P>A		No	ClinGen gnomAD
rs773049104 CA6066146	254	R>*		No	ClinGen ExAC gnomAD
rs1359074535 CA381041276	254	R>P		No	ClinGen TOPMed
CA381041271 rs1402219701	255	T>A		No	ClinGen TOPMed
CA381041265 rs1378665702	255	T>I		No	ClinGen gnomAD
rs1465161218 CA381041259	256	R>Q		No	ClinGen TOPMed gnomAD
rs1331366404 CA381041263	256	R>W	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771940238 CA6066144	257	R>C		No	ClinGen ExAC gnomAD
rs373028969 CA6066143	257	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1416494502 CA381041244	258	R>C		No	ClinGen TOPMed gnomAD
rs774103502 CA6066142	258	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768165208 CA6066141	262	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA223761315 rs200277380	266	S>N		No	ClinGen ESP TOPMed
rs1240275362 CA381041150	267	P>A		No	ClinGen TOPMed gnomAD
CA381041148 rs1240275362	267	P>S		No	ClinGen TOPMed gnomAD
CA6066139 CA381041136 rs10897461	268	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381041143 rs1482991227	268	E>K		No	ClinGen gnomAD
CA381041134 rs1443385988	269	G>S		No	ClinGen gnomAD
rs747380158 CA6066137	271	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6066136 rs145089060	271	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6066135 rs145089060	271	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs779231881 CA6066133	272	A>T		No	ClinGen ExAC gnomAD
CA6066132 rs755118336	272	A>V		No	ClinGen ExAC gnomAD
rs753965999 CA6066131	273	V>M		No	ClinGen ExAC gnomAD
rs150712250 CA381041079	275	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs150712250 CA6066130	275	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs750567813 CA6066128	277	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750567813 CA6066129	277	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6066126 rs774349808	278	D>E		No	ClinGen ExAC gnomAD
rs1417115265 CA381041052	278	D>N		No	ClinGen gnomAD
rs1390390739 CA381041037	279	L>F		No	ClinGen TOPMed
CA6066124 rs764014028	281	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6066123 rs141140296	282	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs774957937 CA6066122	283	T>M		No	ClinGen ExAC TOPMed gnomAD
rs745567946 CA6066120	285	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776098337 CA6066119	286	G>D		No	ClinGen ExAC TOPMed gnomAD
CA381040972 rs1254122824	286	G>R		No	ClinGen gnomAD
rs1485927018 CA381040906	291	L>P		No	ClinGen gnomAD
rs188747389 CA223761156	292	I>L		No	ClinGen 1000Genomes gnomAD
CA381040901 rs188747389	292	I>V		No	ClinGen 1000Genomes gnomAD
rs1246747232 CA381040889	293	S>A		No	ClinGen gnomAD
rs1489170253 CA381040883	293	S>F		No	ClinGen gnomAD
rs748397961 CA6066117	294	L>V		No	ClinGen ExAC gnomAD
rs755530589 CA6066115	296	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1355590 rs562202011 CA6066114	296	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA6066094 rs561320686	300	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA381040750 rs1476311673	300	S>T		No	ClinGen gnomAD
CA381040742 rs781534671	301	M>L		No	ClinGen ExAC TOPMed gnomAD
rs781534671 CA6066093	301	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6066090 rs777576669	304	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6066091 rs777576669	304	T>R		No	ClinGen ExAC TOPMed gnomAD
CA6066087 rs765094575	309	R>C		No	ClinGen ExAC TOPMed gnomAD
rs759155941 CA6066086	309	R>H		No	ClinGen ExAC gnomAD
rs765094575 CA6066088	309	R>S		No	ClinGen ExAC TOPMed gnomAD
rs753276533 CA6066085	311	A>G		No	ClinGen ExAC gnomAD
rs1273194920 CA381040633	311	A>P		No	ClinGen TOPMed
rs766109043 CA6066084	314	G>S		No	ClinGen ExAC gnomAD
rs573148733 CA6066082	315	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6066080 rs376904142	317	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs776203286 CA6066079	318	P>A		No	ClinGen ExAC gnomAD
rs770186505 CA6066078	319	L>V		No	ClinGen ExAC gnomAD
CA223760502 rs144132231	320	R>C		No	ClinGen ESP gnomAD
COSM929971 rs746006936 CA6066077	320	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA381040542 rs746006936	320	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747254445 CA6066074	322	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6066075 rs747254445	322	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	322	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381040456 rs1358341285	325	N>K		No	ClinGen TOPMed gnomAD
rs756937166 CA6066043	328	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6066041 rs751183825	330	S>Y		No	ClinGen ExAC gnomAD
rs759887789 CA6066039	332	W>*		No	ClinGen ExAC gnomAD
CA381039985 rs1590733496	341	V>G		No	ClinGen Ensembl
rs760803120 CA381039981	342	Q>P		No	ClinGen ExAC gnomAD
rs760803120 CA6066036	342	Q>R		No	ClinGen ExAC gnomAD
rs1222305371 CA381039933	344	I>M		No	ClinGen TOPMed gnomAD
CA381039927 rs1353238538	345	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1020367092 CA223760124	345	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA381039916 rs1411039482	346	R>K		No	ClinGen gnomAD
CA381039902 rs1590733088	347	Y>F		No	ClinGen Ensembl
CA6066005 rs146698777	349	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1253926144 CA381039841	352	G>R		No	ClinGen gnomAD
rs1479720117 CA381039830	354	I>V		No	ClinGen gnomAD
CA381039782 rs1565159740	358	I>T		No	ClinGen Ensembl
rs780430073 CA6066000	363	L>R		No	ClinGen ExAC gnomAD
rs144368985 CA6066001 COSM1509371	363	L>V	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA381039719 rs1252089239	364	T>S		No	ClinGen TOPMed
CA223760059 rs375898467	369	F>L		No	ClinGen ESP TOPMed gnomAD
rs756425777 CA6065999	372	S>N		No	ClinGen ExAC gnomAD
CA381039594 rs1443483178	374	R>Q		No	ClinGen TOPMed gnomAD
rs111279077 CA223760058	374	R>W		No	ClinGen gnomAD
CA381039588 rs1359105622	375	R>C		No	ClinGen TOPMed gnomAD
rs768003765 CA6065997	375	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1395883547 CA381039573	376	R>H		No	ClinGen gnomAD
CA6065996 rs761854414	378	N>S		No	ClinGen ExAC TOPMed gnomAD
CA381039535 rs1344140826	380	E>K		No	ClinGen Ensembl
rs1394137404 CA381039515	381	E>V		No	ClinGen TOPMed
CA6065993 rs763264638	384	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs775806181 CA6065992	387	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6065991 rs769724342	390	Q>R		No	ClinGen ExAC gnomAD
CA381039444 rs1212717022	391	D>N		No	ClinGen gnomAD
rs759339665 CA6065990	392	G>E		No	ClinGen ExAC gnomAD
CA6065989 rs776778116	393	A>G		No	ClinGen ExAC gnomAD
TCGA novel	394	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	400	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381039386 rs1318364165	400	M>T		No	ClinGen TOPMed gnomAD
CA6065988 rs202226917	402	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381039373 rs1307018840	402	E>K		No	ClinGen gnomAD
CA381039357 rs1341996927	404	R>T		No	ClinGen TOPMed
rs200852972 CA381039338	407	A>S		No	ClinGen gnomAD
rs200852972 CA223759999	407	A>T		No	ClinGen gnomAD
CA381039333 rs1376392933	408	P>A		No	ClinGen gnomAD
CA381039331 rs1279986340	408	P>Q		No	ClinGen TOPMed
CA381039326 rs1485153595	409	L>W		No	ClinGen TOPMed
rs1257709661 CA381039290	415	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA381039262 rs1159920258	418	D>G		No	ClinGen gnomAD
CA381039265 rs1347192064	418	D>N		No	ClinGen gnomAD
rs771445691 CA6065985	419	E>Q		No	ClinGen ExAC gnomAD
CA381039231 rs1166135326	421	Q>P		No	ClinGen gnomAD
CA381039225 rs1463480588	422	I>V		No	ClinGen gnomAD
CA6065954 rs765607155	424	S>L		No	ClinGen ExAC TOPMed gnomAD
CA381039208 rs1254557881	425	V>F		No	ClinGen gnomAD
rs899447042 CA223759817	427	T>M		No	ClinGen TOPMed gnomAD
CA381039185 rs1194545758	429	V>M		No	ClinGen TOPMed gnomAD
rs1252195222 CA381039176	430	P>H		No	ClinGen gnomAD
rs1179884901 CA381039172	431	R>*		No	ClinGen TOPMed
rs1179884901 CA381039173	431	R>G		No	ClinGen TOPMed
rs548233693 CA6065949	431	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6065948 rs548233693	431	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1345993476 CA381039168	432	S>A		No	ClinGen gnomAD
CA6065947 rs761358841	434	P>S		No	ClinGen ExAC gnomAD
rs773816549 CA6065946	436	A>V		No	ClinGen ExAC gnomAD
rs1294516679 CA381039142	437	P>S		No	ClinGen TOPMed
CA381039133 rs1452148496	438	P>L		No	ClinGen gnomAD
CA381039125 rs1312031987	439	P>L		No	ClinGen gnomAD
rs1397139570 CA381039128	439	P>S		No	ClinGen TOPMed gnomAD
rs1397139570 CA381039130	439	P>T		No	ClinGen TOPMed gnomAD
CA381039119 rs1432701421	440	P>L		No	ClinGen gnomAD
rs1396486077 CA381039109	442	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA381039110 rs1271927098	442	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1173821841 CA381039104	443	P>S		No	ClinGen TOPMed gnomAD
rs1590732406 CA381039098	444	T>P		No	ClinGen Ensembl
rs1223622574 CA381039096	444	T>S		No	ClinGen TOPMed
CA223759772 rs886753107	449	P>T		No	ClinGen TOPMed
rs774946706 CA6065943	451	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1565159396 CA381039028	456	P>S		No	ClinGen Ensembl
rs1046803371 CA223759741	459	T>M		No	ClinGen TOPMed gnomAD
CA381038993 rs1350232824	462	T>A		No	ClinGen TOPMed gnomAD
rs1277791369 CA381038990	462	T>N		No	ClinGen gnomAD
CA381038987 rs1241346711	463	L>V		No	ClinGen gnomAD
CA381038976 rs1336274625	465	R>*		No	ClinGen gnomAD
CA381038966 rs1166072914	466	Q>H		No	ClinGen TOPMed
rs778402351 CA6065940	474	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6065939 rs758952584	474	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381038885 rs1376306119	479	R>Q		No	ClinGen TOPMed
rs1382407396 CA381038887	479	R>W		No	ClinGen TOPMed gnomAD
rs1159794220 CA381038873	481	A>G		No	ClinGen gnomAD
CA381038865 rs1413310058	482	P>L		No	ClinGen gnomAD
CA381038868 rs1590732265	482	P>S		No	ClinGen Ensembl
CA223759718 rs1016361028	483	N>H		No	ClinGen TOPMed
rs942532268 CA223759708	483	N>S		No	ClinGen TOPMed gnomAD
CA381038855 rs1187792830	484	Q>P		No	ClinGen gnomAD
CA381038854 rs1187792830	484	Q>R		No	ClinGen gnomAD
CA381038845 rs1259964050	485	P>L		No	ClinGen TOPMed gnomAD
CA381038848 rs1474529240	485	P>S		No	ClinGen gnomAD
CA381038840 rs1276449231	486	P>R		No	ClinGen TOPMed
rs565254520 CA381038834	487	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA223759694 rs565254520	487	P>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs565254520 CA381038835	487	P>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs1446623377 CA381038838	487	P>T		No	ClinGen gnomAD
CA381038817 rs1427201653	490	I>T		No	ClinGen TOPMed
rs1231309893 CA381038812	491	R>C		No	ClinGen gnomAD
rs1357305016 CA381038809	491	R>H		No	ClinGen gnomAD
rs1201738931 CA381038802	493	A>T		No	ClinGen gnomAD
rs1429851752 CA381038782	496	A>V		No	ClinGen gnomAD
CA381038772 rs754130043	498	R>C		No	ClinGen ExAC TOPMed gnomAD
rs946033018 CA223759663	498	R>H		No	ClinGen TOPMed
rs946033018 CA381038771	498	R>P		No	ClinGen TOPMed
rs754130043 CA6065935	498	R>S		No	ClinGen ExAC TOPMed gnomAD
CA381038760 rs1299598927	500	S>G		No	ClinGen TOPMed
rs1319940283 CA381038758	500	S>N		No	ClinGen gnomAD
rs546151519 CA6065933	501	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA223759653 rs913201485	502	R>C		No	ClinGen TOPMed gnomAD
CA381038744 rs1460282317	502	R>H		No	ClinGen TOPMed gnomAD
CA381038737 rs1420726482	504	G>C		No	ClinGen TOPMed gnomAD
rs1420726482 CA381038735	504	G>S		No	ClinGen TOPMed gnomAD
rs1164194467 CA381038729	505	P>S		No	ClinGen TOPMed gnomAD
rs750159142 CA6065932	506	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1465519398 CA381038716	507	P>H		No	ClinGen gnomAD
CA381038717 rs992833469	507	P>S		No	ClinGen TOPMed gnomAD
CA223759637 rs992833469	507	P>T		No	ClinGen TOPMed gnomAD
rs1336854674 CA381038709	508	P>Q		No	ClinGen gnomAD
rs1211967425 CA381038711	508	P>S		No	ClinGen gnomAD
rs1211967425 CA381038713	508	P>T		No	ClinGen gnomAD
rs761767716 CA381038705	509	P>H		No	ClinGen ExAC gnomAD
rs761767716 CA6065930	509	P>L		No	ClinGen ExAC gnomAD
rs767526390 CA381038707	509	P>S		No	ClinGen ExAC gnomAD
CA6065931 rs767526390	509	P>T		No	ClinGen ExAC gnomAD
CA381038703 rs1271743284	510	T>P		No	ClinGen gnomAD
CA381038697 rs1369802384	511	L>M		No	ClinGen gnomAD
CA381038693 rs1590732016	511	L>P		No	ClinGen Ensembl
rs1442554480 CA381038688	512	I>T		No	ClinGen TOPMed gnomAD
rs1397285182 CA381038683	513	G>*		No	ClinGen gnomAD
VAR_025516 rs320108 CA6065929	514	T>A		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1440041088 CA381038675	514	T>I		No	ClinGen TOPMed gnomAD
rs1440041088 CA381038677	514	T>N		No	ClinGen TOPMed gnomAD
CA381038679 rs320108	514	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1450308109 CA381038671	515	P>H		No	ClinGen TOPMed gnomAD
rs1450308109 CA381038669	515	P>L		No	ClinGen TOPMed gnomAD
rs1170024483 CA381038672	515	P>S		No	ClinGen gnomAD
CA381038668 rs1191790864	516	L>M		No	ClinGen gnomAD
CA381038666 rs1469913661	516	L>Q		No	ClinGen gnomAD
CA381038663 rs1247383623	517	E>*		No	ClinGen gnomAD
rs1203689985 CA381038656	517	E>D		No	ClinGen gnomAD
CA381038650 rs1436015681	518	P>L		No	ClinGen gnomAD
rs1274791839 CA381038647	519	P>L		No	ClinGen gnomAD
rs1034419377 CA223759632	519	P>S		No	ClinGen TOPMed
rs1346699799 CA381038639	520	A>V		No	ClinGen gnomAD
CA223759619 rs980705434	521	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA381038630 rs1367647379	522	S>*		No	ClinGen gnomAD

No associated diseases with Q8IZ40

5 regional properties for Q8IZ40

Type	Name	Position	InterPro Accession
domain	ELM2 domain	44 - 129	IPR000949
domain	SANT/Myb domain	131 - 179	IPR001005-1
domain	SANT/Myb domain	328 - 376	IPR001005-2
domain	SANT domain	130 - 181	IPR017884-1
domain	SANT domain	327 - 378	IPR017884-2

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
histone deacetylase complex	A protein complex that possesses histone deacetylase activity.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

2 GO annotations of molecular function

Name	Definition
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

3 GO annotations of biological process

Name	Definition
histone deacetylation	The modification of histones by removal of acetyl groups.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8C796	Rcor2	REST corepressor 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPSVMEKPSA	GSGILSRSRA	KTVPNGGQPH	SEDDSSEEEH	SHDSMIRVGT	NYQAVIPECK
70	80	90	100	110	120
PESPARYSNK	ELKGMLVWSP	NHCVSDAKLD	KYIAMAKEKH	GYNIEQALGM	LLWHKHDVEK
130	140	150	160	170	180
SLADLANFTP	FPDEWTVEDK	VLFEQAFGFH	GKCFQRIQQM	LPDKLIPSLV	KYYYSWKKTR
190	200	210	220	230	240
SRTSVMDRQA	RRLGGRKDKE	DSDELEEGRG	GVSEGEPDPA	DPKREPLPSR	PLNARPGPGK
250	260	270	280	290	300
KEVQVSQYRH	HPLRTRRRPP	KGMYLSPEGL	TAVSGSPDLA	NLTLRGLDSQ	LISLKRQVQS
310	320	330	340	350	360
MKQTNSSLRQ	ALEGGIDPLR	PPEANTKFNS	RWTTDEQLLA	VQAIRRYGKD	FGAIAEVIGN
370	380	390	400	410	420
KTLTQVKTFF	VSYRRRFNLE	EVLQEWEAEQ	DGAPGAPVPM	EEARRGAPLP	APALEEDDEV
430	440	450	460	470	480
QITSVSTSVP	RSVPPAPPPP	PPPTSLSQPP	PLLRPPLPTA	PTLLRQPPPL	QQGRFLQPRL
490	500	510	520
APNQPPPPLI	RPALAAPRHS	ARPGPQPPPT	LIGTPLEPPA	PSL