AiPD: Autoinhibited Protein Database

Q9Y483

Gene name	MTF2 (PCL2)
Protein name	Metal-response element-binding transcription factor 2
Names	Metal regulatory transcription factor 2, Metal-response element DNA-binding protein M96, Polycomb-like protein 2, hPCl2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:22823
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-67 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-67 (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

2 structures for Q9Y483

Entry ID	Method	Resolution	Chain	Position	Source
5XFR	X-ray	225 A	A/B	43-358	PDB
AF-Q9Y483-F1	Predicted				AlphaFoldDB

322 variants for Q9Y483

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1350366036 CA341249145	5	T>I		No	ClinGen gnomAD
rs762923381 CA952869	6	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA341249151 rs1265170548	7	A>T		No	ClinGen gnomAD
rs764436816 CA952870	8	G>A		No	ClinGen ExAC TOPMed gnomAD
CA952871 rs774487835	11	L>V		No	ClinGen ExAC gnomAD
rs1183850511 CA341249189	13	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA952873 rs183737932	13	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750955831 CA952874	14	K>R		No	ClinGen ExAC gnomAD
CA952876 rs766773407	15	R>W		No	ClinGen ExAC TOPMed gnomAD
CA26782402 rs137905512	17	P>S		No	ClinGen ESP
rs754440392 CA952878	19	R>C		No	ClinGen ExAC TOPMed gnomAD
CA952879 rs778633481	19	R>H		No	ClinGen ExAC TOPMed gnomAD
CA952880 COSM176178 rs189234488	20	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs746773581 CA952883	24	T>N		No	ClinGen ExAC
rs1405923338 CA341249536	25	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA341249553 rs1285470717	26	T>I		No	ClinGen TOPMed gnomAD
CA26782415 rs983569243	27	S>F		No	ClinGen TOPMed
rs1343847574 CA341249576	28	L>F		No	ClinGen gnomAD
rs770953603 CA952884	29	T>A		No	ClinGen ExAC TOPMed gnomAD
rs941890613 CA26782421	30	K>R		No	ClinGen Ensembl
TCGA novel	31	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774575875 CA341249642	34	Q>H		No	ClinGen ExAC gnomAD
CA952887 rs768559181	34	Q>R		No	ClinGen ExAC
CA341249655 rs1255287328	35	D>E		No	ClinGen TOPMed
CA26782431 rs1054951816	37	H>L		No	ClinGen gnomAD
CA341249709 rs1199845356	40	K>E		No	ClinGen TOPMed gnomAD
CA341249707 rs1199845356	40	K>Q		No	ClinGen TOPMed gnomAD
rs767694863 CA952890	40	K>R		No	ClinGen ExAC gnomAD
rs1479265285 CA341249748	43	A>T		No	ClinGen gnomAD
CA341249762 rs1266008299	44	C>R		No	ClinGen TOPMed
CA26782436 rs781395811	44	C>Y		No	ClinGen Ensembl
CA341249771 rs1373161287	45	K>T		No	ClinGen TOPMed gnomAD
CA341249786 rs1476077167	46	F>L		No	ClinGen gnomAD
rs760932337 CA952892	47	E>G		No	ClinGen ExAC gnomAD
rs1166723863 CA341249790	47	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA26782440 rs889679212	48	E>D		No	ClinGen TOPMed gnomAD
rs574583820 CA952893	50	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA952894 rs754233865	57	S>L		No	ClinGen ExAC gnomAD
rs1296492211 CA341249970	61	F>I		No	ClinGen gnomAD
TCGA novel	64	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754533215 CA952895	65	T>A		No	ClinGen ExAC gnomAD
rs371292695 CA341250033	65	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA952896 rs371292695	65	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs758169017 CA952898	66	I>V		No	ClinGen ExAC gnomAD
rs545847861 CA952921	69	I>M		No	ClinGen 1000Genomes ExAC
CA341250150 rs1571235174	69	I>T		No	ClinGen Ensembl
rs1160262651 CA341250145	69	I>V		No	ClinGen gnomAD
rs1203929706 CA341250162	70	N>S		No	ClinGen TOPMed
rs748291301 CA952924	71	I>M		No	ClinGen ExAC gnomAD
rs779953209 CA952923	71	I>T		No	ClinGen ExAC gnomAD
CA952922 rs147471959	71	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs772072326 CA952925	72	L>S		No	ClinGen ExAC gnomAD
CA952926 rs777985864	74	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA341250291 rs1307477787	77	F>I		No	ClinGen gnomAD
rs1307477787 CA341250296	77	F>V		No	ClinGen gnomAD
rs149975527 CA952929	79	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs776901012 CA341250405	83	S>G		No	ClinGen ExAC gnomAD
TCGA novel	83	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776901012 CA952930	83	S>R		No	ClinGen ExAC gnomAD
rs148700240 CA952931	89	L>H		No	ClinGen ESP ExAC
TCGA novel	102	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773778714 CA952954	103	M>V		No	ClinGen ExAC gnomAD
rs1424564680 CA341251912	106	T>I		No	ClinGen gnomAD
CA341251949 rs1176419752	107	I>M		No	ClinGen gnomAD
CA952955 rs146740892	107	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA341252115 rs1171133606	114	E>A		No	ClinGen gnomAD
CA952956 rs144047097	115	A>P		No	ClinGen ESP ExAC gnomAD
rs1307205499 CA341252178	117	N>D		No	ClinGen gnomAD
rs1365921366 CA341252223	119	M>T		No	ClinGen gnomAD
rs993057112 CA26783079	119	M>V		No	ClinGen Ensembl
CA952957 rs772851960	121	I>M		No	ClinGen ExAC
rs1272660051 CA341252286	123	D>V		No	ClinGen gnomAD
rs1366365043 CA341252327	127	Q>E		No	ClinGen gnomAD
rs772872603 CA952981	128	G>E		No	ClinGen ExAC gnomAD
TCGA novel	131	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341252422 rs1289492447	131	Q>R		No	ClinGen gnomAD
rs1334438135 CA341252427	132	L>M		No	ClinGen TOPMed
CA341252455 rs1218162567	134	H>Q		No	ClinGen gnomAD
CA341252496 rs1309266161	139	D>G		No	ClinGen TOPMed
CA952984 rs776459109	139	D>H		No	ClinGen ExAC gnomAD
VAR_054765 rs2815427 CA26783131	140	S>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA341252509 rs2815427	140	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372072793 CA952985	140	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs2815427 CA341252507	140	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341252512 rs1338261974	141	S>G		No	ClinGen TOPMed
rs757299708 CA952988	141	S>I		No	ClinGen ExAC gnomAD
CA952989 rs149230809	142	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA952992 rs780407825	150	L>H		No	ClinGen ExAC gnomAD
rs1571239356 CA341252671	157	A>V		No	ClinGen Ensembl
CA952994 rs376411392	158	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA952995 rs376411392	158	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1297904433 CA341252686	159	T>I		No	ClinGen Ensembl
rs748639887 CA341252687	160	T>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	160	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748639887 CA952996	160	T>A		No	ClinGen ExAC TOPMed gnomAD
rs778241732 CA953017	170	P>L		No	ClinGen ExAC gnomAD
rs1472078029 CA341252820	171	N>D		No	ClinGen gnomAD
rs146260596 CA953018	173	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA341252852 rs1378874743	174	A>T		No	ClinGen gnomAD
rs1026397659 CA26783205	182	L>F		No	ClinGen Ensembl
rs1370302054 CA341252956	184	Y>C		No	ClinGen gnomAD
CA341252989 rs1325752303	187	A>V		No	ClinGen gnomAD
rs1351234656 CA341252998	188	D>A		No	ClinGen TOPMed
CA341253009 rs1571239815	190	E>K		No	ClinGen Ensembl
CA26783207 rs866447049	193	A>V		No	ClinGen Ensembl
rs1557553589 CA341253074	195	H>R		No	ClinGen Ensembl
rs372949952 CA953022	198	N>S		No	ClinGen ESP ExAC
TCGA novel	199	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341253140 rs1232577397	201	Q>R		No	ClinGen gnomAD
CA341253268 rs1437206110 CA341253269	212	W>C		No	ClinGen gnomAD
rs1316688371 CA341253276	213	Y>C		No	ClinGen gnomAD
CA26783571 rs934201351	214	L>S		No	ClinGen gnomAD
rs780644573 CA953040	220	C>Y		No	ClinGen ExAC gnomAD
rs1051444513 CA26783574	221	K>R		No	ClinGen TOPMed gnomAD
rs1208832683 CA341253378	223	K>E		No	ClinGen gnomAD
CA953041 rs745344955	223	K>M		No	ClinGen ExAC gnomAD
TCGA novel	225	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247911428 CA341253455	229	A>V		No	ClinGen gnomAD
CA341253497 rs1424813106	234	L>V		No	ClinGen TOPMed
TCGA novel	237	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341253568 rs1186379928	241	G>R		No	ClinGen TOPMed
TCGA novel	242	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA953071 rs779767918	243	R>S		No	ClinGen ExAC TOPMed
CA341253878 rs1466495426	245	Y>F		No	ClinGen gnomAD
TCGA novel	246	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA953073 rs368305569	246	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA341253884 rs1304461614	246	T>S		No	ClinGen gnomAD
CA341253906 rs530193073	248	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs530193073 CA953076	248	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA341253923 rs1571243218	249	C>F		No	ClinGen Ensembl
rs1226145031 CA341253926	249	C>W		No	ClinGen TOPMed gnomAD
rs1571243238 CA341253937	251	V>F		No	ClinGen Ensembl
rs548487482 CA953078	253	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1483151567 CA341253971	254	S>F		No	ClinGen gnomAD
rs1257528925 CA341253988	256	P>A		No	ClinGen TOPMed
rs1257528925 CA341253987	256	P>S		No	ClinGen TOPMed
rs775805505 CA953080	260	K>R		No	ClinGen ExAC TOPMed gnomAD
CA341254039 rs1181678784	261	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs998752706 CA26783731	262	L>V		No	ClinGen TOPMed gnomAD
CA953081 rs763125498	265	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA26783732 rs927714960	265	Q>K		No	ClinGen Ensembl
CA341254167 rs1366236766	269	I>R		No	ClinGen gnomAD
rs373446756 CA26783888	270	A>T		No	ClinGen ESP
CA953096 COSM1748667 rs769950041	270	A>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA341254181 rs1571244469	271	H>Y		No	ClinGen Ensembl
TCGA novel	276	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768928453 CA953099	280	I>V		No	ClinGen ExAC gnomAD
TCGA novel	292	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26783894 rs79238228	302	R>K		No	ClinGen Ensembl
CA341254761 rs1044683732	304	H>Q		No	ClinGen TOPMed gnomAD
rs1158325892 CA341254742	304	H>Y		No	ClinGen gnomAD
CA341241738 rs1241312573	309	A>G		No	ClinGen TOPMed
CA341241743 rs913784254	310	D>G		No	ClinGen gnomAD
CA341241741 rs1266255498	310	D>H		No	ClinGen gnomAD
CA26762349 rs913784254	310	D>V		No	ClinGen gnomAD
rs201367461 CA26762359	314	S>C		No	ClinGen Ensembl
rs1237861731 CA341241788	317	Y>H		No	ClinGen gnomAD
rs376077677 CA953118	318	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs946750863 CA26762371	320	V>I		No	ClinGen Ensembl
CA953120 rs748327882	328	K>N		No	ClinGen ExAC gnomAD
TCGA novel	336	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	336	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26763941 rs759180756 COSM913368	349	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA341242288 rs1275420195	349	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA341242296 rs1571252389	350	V>F		No	ClinGen Ensembl
rs1347047955 CA341242328	353	V>M		No	ClinGen gnomAD
CA341242356 rs1217369650	355	P>Q		No	ClinGen gnomAD
rs758605189 CA953142	356	N>D		No	ClinGen ExAC gnomAD
rs1206903203 CA341242385	357	V>G		No	ClinGen gnomAD
CA341242379 rs1342584092	357	V>M		No	ClinGen gnomAD
CA26763980 rs913484771	359	F>V		No	ClinGen TOPMed gnomAD
rs778052508 CA953143	365	P>R		No	ClinGen ExAC gnomAD
TCGA novel	369	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	373	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341242621 rs747339157	374	I>S		No	ClinGen ExAC TOPMed
CA953144 rs747339157	374	I>T		No	ClinGen ExAC TOPMed
rs1198970294 CA341242627	375	K>E		No	ClinGen gnomAD
rs1205857215 CA341242669	378	K>R		No	ClinGen TOPMed
CA953145 rs771270375	379	A>T		No	ClinGen ExAC gnomAD
CA953147 rs746340007	383	I>V		No	ClinGen ExAC gnomAD
CA341243191 rs1272978466	388	E>K		No	ClinGen TOPMed
CA341243204 rs1187078244	390	S>G		No	ClinGen gnomAD
CA953164 rs746215566 COSM682685	393	I>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1219730506 CA341243238	394	E>D		No	ClinGen TOPMed
CA953168 rs538754400	396	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs759847587	397	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs759847587	397	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA341243261 rs1388721246	398	K>E		No	ClinGen gnomAD
TCGA novel	399	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748757631 CA953170	401	S>A		No	ClinGen ExAC TOPMed gnomAD
CA953171 rs768160286	401	S>F		No	ClinGen ExAC gnomAD
CA26767818 rs899561841	403	G>V		No	ClinGen TOPMed
rs1275020349 COSM3419585 CA341243301	404	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA953173 rs375713787	404	R>H		No	ClinGen ESP ExAC gnomAD
rs773047530 CA953175	408	P>S		No	ClinGen ExAC gnomAD
CA953176 rs146904489	409	Y>C		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA341243330 rs146904489	409	Y>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs753751265 CA341243338	410	T>I		No	ClinGen ExAC TOPMed gnomAD
rs753751265 CA953178	410	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1324997976 CA341243343	411	R>I		No	ClinGen TOPMed
rs762966323 CA953179	411	R>S		No	ClinGen ExAC gnomAD
rs1466057771 CA341243346	412	K>E		No	ClinGen TOPMed
TCGA novel	412	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA953180 rs764195493	412	K>T		No	ClinGen ExAC gnomAD
TCGA novel CA341243360 rs1261537761	413	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA341243368 rs1424732864	415	Q>K		No	ClinGen TOPMed gnomAD
rs751564516 CA953181	416	K>N		No	ClinGen ExAC gnomAD
TCGA novel	418	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA953182 rs757605105	421	L>F		No	ClinGen ExAC gnomAD
CA26767899 rs141766157	422	L>W		No	ClinGen ESP TOPMed
CA953200 rs761914281	423	D>G		No	ClinGen ExAC gnomAD
CA953199 rs554881537	423	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs767914322 CA953201	424	K>N		No	ClinGen ExAC TOPMed gnomAD
rs750655207 CA953202	425	E>K		No	ClinGen ExAC gnomAD
rs1313302940 CA341243550	428	S>T		No	ClinGen TOPMed gnomAD
CA341243573 rs1303971285	429	E>A		No	ClinGen gnomAD
rs1236208235 CA341243564	429	E>K		No	ClinGen gnomAD
rs1278664913 CA341243585	430	N>D		No	ClinGen gnomAD
CA26768159 rs267598771	431	P>S		No	ClinGen Ensembl
rs1178383773 CA341243619	433	L>S		No	ClinGen TOPMed
rs756589883 CA341243664	436	P>A		No	ClinGen ExAC gnomAD
rs756589883 CA953204	436	P>S		No	ClinGen ExAC gnomAD
rs576246655 CA953206	439	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA953205 rs138260646	439	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	439	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766456138 CA953223	441	R>K		No	ClinGen ExAC gnomAD
CA953224 rs754235699	443	E>*		No	ClinGen ExAC gnomAD
CA953225 rs541149620	446	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs375212833 CA953226	447	H>Y		No	ClinGen ESP ExAC gnomAD
CA26768468 rs754636918	449	S>A		No	ClinGen Ensembl
rs1039525707 CA26768472	449	S>F		No	ClinGen TOPMed
rs143286394 CA953228	450	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA953229 rs777294935	451	T>I		No	ClinGen ExAC TOPMed gnomAD
CA953230 rs746471855	454	V>M		No	ClinGen ExAC TOPMed gnomAD
CA953231 rs756944942	457	T>M		No	ClinGen ExAC TOPMed gnomAD
CA953233 rs745739457	458	G>V		No	ClinGen ExAC gnomAD
CA341243901 rs1214252316	459	A>S		No	ClinGen TOPMed gnomAD
rs1014597465 CA341243909	460	S>C		No	ClinGen TOPMed gnomAD
rs1014597465 CA26768519	460	S>F		No	ClinGen TOPMed gnomAD
CA953234 rs769458705	461	S>G		No	ClinGen ExAC TOPMed gnomAD
CA953235 rs372898714	462	A>T		No	ClinGen ESP ExAC gnomAD
CA953236 rs749273526	462	A>V		No	ClinGen ExAC TOPMed gnomAD
CA341243936 rs773441104	463	K>E		No	ClinGen ExAC TOPMed gnomAD
CA953238 rs773441104	463	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1474285282 CA341243986	466	T>A		No	ClinGen gnomAD
rs760606327 CA953239	467	S>L		No	ClinGen ExAC gnomAD
CA26768587 rs920530055	469	S>C		No	ClinGen TOPMed
rs920530055 CA341244027	469	S>G		No	ClinGen TOPMed
rs141909054 CA953241	469	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs141909054 CA341244034	469	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA341244053 rs1354860391	470	I>S		No	ClinGen TOPMed
CA341244068 rs1462063634	471	S>Y		No	ClinGen TOPMed gnomAD
TCGA novel	474	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169413110 CA341244126	475	G>A		No	ClinGen gnomAD
CA953261 rs747172805	478	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1411724423 CA341244496	479	S>F		No	ClinGen gnomAD
rs1348459071 CA341244537	482	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	482	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770893619 CA953263	483	T>K		No	ClinGen ExAC TOPMed gnomAD
rs770893619 CA953262	483	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769952594 COSM3741433 CA953265	484	R>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA953266 rs775843760	484	R>H		No	ClinGen ExAC gnomAD
CA341244561 rs775843760	484	R>P		No	ClinGen ExAC gnomAD
rs763234602 CA953267	488	S>C		No	ClinGen ExAC gnomAD
TCGA novel	488	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26770954 rs927209944	489	W>S		No	ClinGen TOPMed gnomAD
rs1170694359 CA341244629	490	P>L		No	ClinGen TOPMed
CA953268 rs764649997	493	I>V		No	ClinGen ExAC TOPMed gnomAD
rs751992913 CA953269	495	H>N		No	ClinGen ExAC gnomAD
rs1397317301 CA341244704	496	L>V		No	ClinGen gnomAD
CA953271 rs139375903	497	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA953270 rs1046801	497	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA953273 rs749903364	498	R>S		No	ClinGen ExAC TOPMed gnomAD
CA341244739 rs1411801351	498	R>T		No	ClinGen gnomAD
rs755739276 CA953274	500	R>G		No	ClinGen ExAC TOPMed gnomAD
rs943981469 CA26771016	502	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA341244824 rs1277007961	502	R>H		No	ClinGen TOPMed
rs943981469 CA26771019	502	R>S		No	ClinGen TOPMed
rs1441447157 CA341244849	504	P>L		No	ClinGen gnomAD
rs1352120665 CA341244851	505	R>G		No	ClinGen TOPMed
COSM682684 rs753754787 CA953276	511	Q>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs200133449 CA953275	511	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	515	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868639197 CA26771036	515	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA953278 rs754808853	518	D>G		No	ClinGen ExAC
CA953279 rs779044413	519	D>E		No	ClinGen ExAC TOPMed gnomAD
rs748005336 CA953280	520	E>K		No	ClinGen ExAC gnomAD
rs141738080 CA953281	521	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781152693 CA953283	522	K>E		No	ClinGen ExAC
rs781152693 CA953282	522	K>Q		No	ClinGen ExAC
CA341245106 rs1331996088	522	K>R		No	ClinGen TOPMed
CA341245151 rs1200280911	525	Y>D		No	ClinGen gnomAD
CA341245166 rs1255430118	525	Y>F		No	ClinGen gnomAD
CA26771123 rs112099255	528	D>G		No	ClinGen TOPMed
rs918600672 CA26771131	531	N>D		No	ClinGen TOPMed gnomAD
CA341245299 rs1391127271	532	T>P		No	ClinGen gnomAD
CA341245362 rs1224001064	535	L>P		No	ClinGen Ensembl
CA953285 rs775682377	539	A>G		No	ClinGen ExAC gnomAD
TCGA novel	539	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411352685 CA341245427	540	D>G		No	ClinGen TOPMed
rs371327740 CA26771134	540	D>N		No	ClinGen ESP TOPMed
CA341245445 rs1571259275	541	Q>R		No	ClinGen Ensembl
CA341245453 rs1395908728	542	E>K		No	ClinGen gnomAD
rs1406020444 CA341245479	544	Q>K		No	ClinGen gnomAD
rs768981663 CA953287	546	N>H		No	ClinGen ExAC gnomAD
CA953288 rs77900924	546	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768013188 CA953290	550	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA26771215 rs865794919	553	T>N		No	ClinGen Ensembl
CA341245693 rs1276331915	558	A>T		No	ClinGen gnomAD
rs1357480461 CA341245707	559	A>S		No	ClinGen TOPMed gnomAD
rs1207427135 CA341245811	565	G>D		No	ClinGen TOPMed
CA26771258 rs1001044433	567	K>N		No	ClinGen TOPMed gnomAD
rs778604065 CA953296	567	K>Q		No	ClinGen ExAC gnomAD
rs1356266521 CA740425021	568	Y>*		No	ClinGen Ensembl
rs752487729 CA953297	569	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs777697964 CA953299	573	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777697964 CA341245945	573	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	577	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA953300 rs745998380	580	K>R		No	ClinGen ExAC gnomAD
rs1415709116 CA341246056	583	Y>H		No	ClinGen gnomAD
CA26771294 rs867752694	585	V>M		No	ClinGen Ensembl
rs1365696331 CA341246178	592	A>V		No	ClinGen TOPMed

No associated diseases with Q9Y483

No regional properties for Q9Y483

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9Y483

Functions

		Description
EC Number
Subcellular Localization	Nucleus	Localizes to chromatin as part of the PRC2 complex
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
ESC/E(Z) complex	A multimeric protein complex that can methylate lysine-27 and lysine-9 residues of histone H3. In Drosophila the core subunits of the complex include ESC, E(Z), CAF1 (NURF-55) and SU(Z)12. In mammals the core subunits of the complex include EED, EZH2, SUZ12 and RBBP4.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

6 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
metal ion binding	Binding to a metal ion.
methylated histone binding	Binding to a histone in which a residue has been modified by methylation.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
transcription corepressor binding	Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery.

10 GO annotations of biological process

Name	Definition
cellular response to leukemia inhibitory factor	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus.
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
negative regulation of histone H3-K27 methylation	Any process that decreases the rate, frequency, or extent of histone H3-K27 methylation. Histone H3-K27 methylation is the modification of histone H3 by addition of a methyl group to lysine at position 27 of the histone.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of histone H3-K27 methylation	Any process that increases the rate, frequency, or extent of histone H3-K27 methylation. Histone H3-K27 methylation is the modification of histone H3 by addition of a methyl group to lysine at position 27 of the histone.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
segment specification	The process in which segments assume individual identities; exemplified in insects by the actions of the products of the homeotic genes.
stem cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
stem cell population maintenance	The process by which an organism or tissue maintains a population of stem cells of a single type. This can be achieved by a number of mechanisms: stem cell asymmetric division maintains stem cell numbers; stem cell symmetric division increases them; maintenance of a stem cell niche maintains the conditions for commitment to the stem cell fate for some types of stem cell; stem cells may arise de novo from other cell types.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O43189	PHF1	PHD finger protein 1	Homo sapiens (Human)	PR
Q9Z1B8	Phf1	PHD finger protein 1	Mus musculus (Mouse)	PR
Q02395	Mtf2	Metal-response element-binding transcription factor 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MRDSTGAGNS	LVHKRSPLRR	NQKTPTSLTK	LSLQDGHKAK	KPACKFEEGQ	DVLARWSDGL
70	80	90	100	110	120
FYLGTIKKIN	ILKQSCFIIF	EDSSKSWVLW	KDIQTGATGS	GEMVCTICQE	EYSEAPNEMV
130	140	150	160	170	180
ICDKCGQGYH	QLCHTPHIDS	SVIDSDEKWL	CRQCVFATTT	KRGGALKKGP	NAKALQVMKQ
190	200	210	220	230	240
TLPYSVADLE	WDAGHKTNVQ	QCYCYCGGPG	DWYLKMLQCC	KCKQWFHEAC	VQCLQKPMLF
250	260	270	280	290	300
GDRFYTFICS	VCSSGPEYLK	RLPLQWVDIA	HLCLYNLSVI	HKKKYFDSEL	ELMTYINENW
310	320	330	340	350	360
DRLHPGELAD	TPKSERYEHV	LEALNDYKTM	FMSGKEIKKK	KHLFGLRIRV	PPVPPNVAFK
370	380	390	400	410	420
AEKEPEGTSH	EFKIKGRKAS	KPISDSREVS	NGIEKKGKKK	SVGRPPGPYT	RKMIQKTAEP
430	440	450	460	470	480
LLDKESISEN	PTLDLPCSIG	RTEGTAHSSN	TSDVDFTGAS	SAKETTSSSI	SRHYGLSDSR
490	500	510	520	530	540
KRTRTGRSWP	AAIPHLRRRR	GRLPRRALQT	QNSEIVKDDE	GKEDYQFDEL	NTEILNNLAD
550	560	570	580	590
QELQLNHLKN	SITSYFGAAG	RIACGEKYRV	LARRVTLDGK	VQYLVEWEGA	TAS