AiPD: Autoinhibited Protein Database

Q8N680

Gene name	ZBTB2 (KIAA1483, ZNF437)
Protein name	Zinc finger and BTB domain-containing protein 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57621
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

119-265 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

119-265 (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 Q8N680

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N680-F1	Predicted				AlphaFoldDB

264 variants for Q8N680

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA150133539 rs1044743786	9	I>T		No	ClinGen TOPMed gnomAD
rs776570285 CA150133521	16	A>S		No	ClinGen ExAC gnomAD
rs776570285 CA4050672	16	A>T		No	ClinGen ExAC gnomAD
TCGA novel	18	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366087430 rs1243125720	31	G>S		No	ClinGen gnomAD
CA366087386 rs1386818332	37	A>T		No	ClinGen gnomAD
TCGA novel	42	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	47	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs909346430 CA150133457	47	N>S		No	ClinGen TOPMed
rs201490789 CA4050663	51	M>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1460837701 CA366087258	55	H>Y		No	ClinGen gnomAD
CA366087246 rs1415634952	56	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1484634968 CA366084989	60	C>Y		No	ClinGen TOPMed
CA4050646 rs778293450	62	R>C		No	ClinGen ExAC gnomAD
CA4050645 rs200451298	62	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1562763569 CA366084910	65	P>S		No	ClinGen Ensembl
CA366084897 rs1418742067	66	T>A		No	ClinGen TOPMed
rs142563728 CA4050642	66	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4050643 rs142563728	66	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	68	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751764145 CA4050641	69	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4050636 rs200678419	75	Y>C		No	ClinGen ExAC gnomAD
rs753867546 CA4050635	76	L>V		No	ClinGen ExAC gnomAD
rs913308724 CA150124687	85	M>I		No	ClinGen TOPMed
TCGA novel	85	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4050632 rs772901626	86	A>V		No	ClinGen ExAC TOPMed gnomAD
rs773887447 CA4050630	90	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4050627 rs376506691	94	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376506691 COSM1311670 CA4050626	94	R>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1582912764 CA366084198	103	H>P		No	ClinGen Ensembl
CA150124623 rs1023753989	104	A>T		No	ClinGen TOPMed gnomAD
rs1582912746 CA366084165	105	Y>S		No	ClinGen Ensembl
CA4050623 rs778027788	106	P>A		No	ClinGen ExAC gnomAD
CA366084157 rs778027788	106	P>T		No	ClinGen ExAC gnomAD
CA150124612 rs991826089	110	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	113	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366084066 rs1280430564	113	L>I		No	ClinGen gnomAD
COSM1441214 CA4050620 rs191541534	114	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA366084053 rs1277634972	115	S>C		No	ClinGen gnomAD
CA366084030 rs1308748405	118	A>G		No	ClinGen gnomAD
CA150124602 rs1049423804	118	A>T		No	ClinGen TOPMed gnomAD
CA366084029 rs1308748405	118	A>V		No	ClinGen gnomAD
rs1393608417 CA366084004	122	P>S		No	ClinGen TOPMed
rs1178673551 CA366083991	124	Q>E		No	ClinGen gnomAD
rs1415468635 CA366083988	124	Q>R		No	ClinGen gnomAD
CA366083977 rs1562763430	126	F>L		No	ClinGen Ensembl
TCGA novel	127	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766364669 CA4050617	127	P>S		No	ClinGen ExAC TOPMed gnomAD
CA366083965 rs1157511079	128	L>V		No	ClinGen gnomAD
CA366083915 rs1461100521	131	S>L		No	ClinGen TOPMed
rs1251855178 CA366083909	132	L>V		No	ClinGen TOPMed gnomAD
rs767242285 CA4050614	138	A>T		No	ClinGen ExAC gnomAD
CA4050613 rs761492302	139	D>G		No	ClinGen ExAC gnomAD
rs773940061 CA4050612	140	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763577195 CA4050611	141	Q>H		No	ClinGen ExAC gnomAD
rs762387703 CA4050610	144	Q>H		No	ClinGen ExAC gnomAD
CA4050609 rs774984783	145	A>T		No	ClinGen ExAC TOPMed gnomAD
rs771385662 CA4050608	146	T>N		No	ClinGen ExAC gnomAD
rs772365166 CA4050605	148	I>M		No	ClinGen ExAC gnomAD
rs773605450 CA4050606	148	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1232812558 CA366083670	148	I>V		No	ClinGen gnomAD
rs1220876263 CA366083661	149	A>V		No	ClinGen TOPMed
CA366083645 rs748398649	152	P>L		No	ClinGen ExAC gnomAD
rs748398649 CA4050604	152	P>R		No	ClinGen ExAC gnomAD
CA366083639 rs1344923688	153	E>G		No	ClinGen gnomAD
CA4050602 rs755267853	156	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4050601 rs749318595	156	G>V		No	ClinGen ExAC gnomAD
CA366083617 rs1306833402	157	R>G		No	ClinGen TOPMed
rs756069577 CA4050599	157	R>Q		No	ClinGen ExAC gnomAD
CA4050597 rs767336276	160	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4050598 rs576297041	160	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1272542854 CA366083572	164	S>F		No	ClinGen TOPMed gnomAD
rs139153407 CA4050593	164	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs752151420 CA4050592	165	R>K		No	ClinGen ExAC gnomAD
CA4050590 rs761214440	171	V>A		No	ClinGen ExAC gnomAD
rs900746738 CA150124490	172	P>L		No	ClinGen TOPMed
rs773662031 CA4050589	173	E>G		No	ClinGen ExAC TOPMed gnomAD
CA366083500 rs1427224310	175	S>L		No	ClinGen TOPMed
TCGA novel	176	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295824470 CA366083484	177	L>P		No	ClinGen gnomAD
rs369350793 CA4050587	180	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4050586 rs774863717	183	N>D		No	ClinGen ExAC gnomAD
rs916579587 CA150124452	185	A>D		No	ClinGen Ensembl
rs768964428 CA4050585	185	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4050583 rs780262744	186	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4050582 rs769829470	187	V>E		No	ClinGen ExAC gnomAD
rs1388001016 CA366083418	188	N>K		No	ClinGen TOPMed gnomAD
CA366083415 rs762990228	189	R>L		No	ClinGen ExAC TOPMed gnomAD
rs762990228 CA4050580	189	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4050581 rs745802907	189	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1207934888 CA366083404	191	N>S		No	ClinGen gnomAD
CA366083382 rs1280190536	193	T>S		No	ClinGen TOPMed
rs1232749796 CA366083369	194	P>T		No	ClinGen TOPMed
rs777566439 CA4050577	195	S>A		No	ClinGen ExAC gnomAD
CA4050576 rs758021771	195	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4050575 rs752388287	196	D>E		No	ClinGen ExAC gnomAD
CA366083293 rs1230909867	199	Q>H		No	ClinGen gnomAD
CA366083256 rs1366322491	201	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs928094983 CA150124384	203	S>P		No	ClinGen Ensembl
TCGA novel	205	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	205	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4050573 rs759025849	207	V>L		No	ClinGen ExAC gnomAD
rs767848214 CA4050571	209	T>I		No	ClinGen ExAC TOPMed gnomAD
CA150124359 rs775510475	210	P>L		No	ClinGen Ensembl
rs966877230 CA150124347	211	V>I		No	ClinGen Ensembl
CA4050570 rs762417728	212	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4050569 rs774810289	214	P>A		No	ClinGen ExAC gnomAD
rs374248769 CA4050568	215	P>R		No	ClinGen ESP ExAC TOPMed
CA4050567 rs557266381	216	P>H		No	ClinGen ExAC TOPMed gnomAD
CA366083049 rs557266381	216	P>L		No	ClinGen ExAC TOPMed gnomAD
CA150124301 rs1022480477	217	G>A		No	ClinGen Ensembl
CA4050564 CA4050565 rs148104675	217	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA366083025 rs1268036871	218	E>A		No	ClinGen gnomAD
TCGA novel	218	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770722152 CA4050562	219	E>D		No	ClinGen ExAC gnomAD
rs1249747915 CA366082991	220	T>A		No	ClinGen gnomAD
rs56013233 CA4050560	222	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs758256737 CA4050559	223	E>K		No	ClinGen ExAC gnomAD
CA366082915 rs1231604896	225	S>P		No	ClinGen gnomAD
rs201379095 CA4050555	228	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1309350927 CA366082847	231	P>S		No	ClinGen gnomAD
rs761573898 CA150124238	232	A>E		No	ClinGen ExAC gnomAD
rs761573898 CA4050554 COSM1233129	232	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1170576925 CA366082835	233	S>C		No	ClinGen gnomAD
CA150124233 rs867113043	234	L>F		No	ClinGen Ensembl
CA4050551 rs369552798	236	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4050549 COSM3781581 rs775998685	239	V>I	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1582912310 CA366082796	240	K>E		No	ClinGen Ensembl
CA366082763 rs1381653011	244	M>I		No	ClinGen TOPMed
rs556446677 CA150124204	244	M>V		No	ClinGen Ensembl
CA366082750 rs1256976148	246	R>K		No	ClinGen TOPMed gnomAD
rs771082263 CA4050545	247	N>S		No	ClinGen ExAC gnomAD
CA366082729 rs1562763004	249	S>N		No	ClinGen Ensembl
CA4050543 rs773192501	257	H>R		No	ClinGen ExAC gnomAD
CA150124162 COSM3019323 rs1036759710	261	R>W	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA4050540 rs778802922	262	R>H		No	ClinGen ExAC gnomAD
rs1287434553 CA366082621	265	L>F		No	ClinGen TOPMed
CA366082612 rs1582912220	267	S>R		No	ClinGen Ensembl
rs749022438 CA4050538	267	S>T		No	ClinGen ExAC gnomAD
CA4050537 rs779403885	270	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1582912187 CA366082572	272	H>P		No	ClinGen Ensembl
CA366082566 rs1183782272	273	L>H		No	ClinGen gnomAD
TCGA novel	273	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1235436344 CA366082546	276	H>Y		No	ClinGen gnomAD
rs377314692 CA4050535	279	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs764626344 CA4050534	280	P>R		No	ClinGen ExAC TOPMed gnomAD
rs759001832 CA4050533	282	T>I		No	ClinGen ExAC gnomAD
CA150124084 rs996347763	283	S>A		No	ClinGen TOPMed
rs996347763 CA366082504	283	S>P		No	ClinGen TOPMed
rs915858493 CA150124076	285	Q>L		No	ClinGen Ensembl
CA4050531 rs200348339	289	S>G		No	ClinGen ExAC TOPMed gnomAD
CA150124061 rs867911053	290	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4050530 rs372574480	290	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA150124058 rs372574480	290	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4050528 rs367759027	291	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4050527 rs367759027	291	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4050524 rs748109168	292	P>R		No	ClinGen ExAC gnomAD
CA4050525 rs771958176	292	P>S		No	ClinGen ExAC gnomAD
rs1053043652 CA150124002	293	L>M		No	ClinGen TOPMed
TCGA novel	293	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773957644 CA150123965	295	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1460877218 CA366082411	296	C>S		No	ClinGen gnomAD
rs1390056371 CA366082377	298	N>K		No	ClinGen TOPMed gnomAD
rs927970346 CA150123944	299	A>T		No	ClinGen Ensembl
CA4050521 rs748892409	300	A>G		No	ClinGen ExAC gnomAD
CA4050522 rs768540407	300	A>P		No	ClinGen ExAC gnomAD
CA4050520 rs779696416	303	G>R		No	ClinGen ExAC gnomAD
CA4050518 rs375763873	304	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs780868028 CA4050517	306	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1232005082 CA366082270	307	M>T		No	ClinGen TOPMed
rs915408261 CA150123826	307	M>V		No	ClinGen TOPMed gnomAD
rs1456151730 CA366082251	308	E>A		No	ClinGen TOPMed
CA366082235 rs1287109701	309	V>G		No	ClinGen gnomAD
CA366082166 rs1170670371	314	M>I		No	ClinGen TOPMed
rs1427172229 CA366082142	316	S>N		No	ClinGen TOPMed
CA366082104 rs1225743434	319	E>D		No	ClinGen gnomAD
CA4050512 rs369110231	320	L>P		No	ClinGen ExAC gnomAD
CA4050511 rs766523582	324	S>A		No	ClinGen ExAC gnomAD
CA366082051 rs1562762670	327	P>L		No	ClinGen Ensembl
rs767635479 CA4050508	328	I>L		No	ClinGen ExAC gnomAD
rs767635479 CA4050509	328	I>V		No	ClinGen ExAC gnomAD
rs761712276 CA366082038	330	D>H		No	ClinGen ExAC TOPMed gnomAD
rs761712276 CA4050507	330	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA366082037 rs761712276	330	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA4050506 rs774417427	331	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4050505 rs768487812	332	Q>K		No	ClinGen ExAC gnomAD
CA366082022 rs1370630987	332	Q>L		No	ClinGen TOPMed
rs762738481 CA4050504	334	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA4050502 rs146906788	335	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4050503 rs775176047	335	S>P		No	ClinGen ExAC gnomAD
rs1582911971 CA366081992	337	T>P		No	ClinGen Ensembl
rs1456183490 CA366081978	339	P>S		No	ClinGen TOPMed
CA4050498 rs748588161	340	P>S		No	ClinGen ExAC gnomAD
rs1450885157 CA366081966	341	S>L		No	ClinGen TOPMed
TCGA novel	341	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4050494 rs149628106	348	N>I		No	ClinGen ESP ExAC gnomAD
CA366081900 rs1248432511	350	E>D		No	ClinGen TOPMed
rs916497568 CA150123680	351	Q>H		No	ClinGen TOPMed
CA366081888 rs1167440839	352	A>G		No	ClinGen TOPMed
rs1167440839 CA366081887	352	A>V		No	ClinGen TOPMed
CA366081849 rs1562762536	357	E>V		No	ClinGen Ensembl
TCGA novel	370	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	370	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61733841 CA4050489	375	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	377	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366081486 rs1414197248	382	M>V		No	ClinGen gnomAD
rs1410541335 CA366081370	391	K>R		No	ClinGen gnomAD
rs1179452094 CA366081350	392	C>W		No	ClinGen gnomAD
CA366081334 rs1483824617	393	S>R		No	ClinGen gnomAD
CA366081323 rs1252172126	394	T>I		No	ClinGen gnomAD
CA4050485 rs769750895	409	V>M		No	ClinGen ExAC TOPMed gnomAD
CA150123568 rs975336852	412	N>S		No	ClinGen TOPMed
TCGA novel	414	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777180966 CA366081068	415	I>F		No	ClinGen ExAC TOPMed gnomAD
CA4050479 rs140541527	415	I>T		No	ClinGen ESP ExAC gnomAD
CA4050480 rs777180966	415	I>V		No	ClinGen ExAC TOPMed gnomAD
CA366080993 rs1447606573	417	T>I		No	ClinGen gnomAD
CA366080930 rs1336600767	420	M>V		No	ClinGen gnomAD
CA366080901 rs1470575251	421	V>M		No	ClinGen gnomAD
CA150123515 rs938608695	423	K>R		No	ClinGen gnomAD
CA366080611 rs11155787	432	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4050474 rs781320770	433	E>D		No	ClinGen ExAC gnomAD
rs371385923 CA4050472	440	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs376220688 CA4050469	442	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4050468 rs765110554	444	T>I		No	ClinGen ExAC TOPMed gnomAD
rs765110554 CA366080308	444	T>K		No	ClinGen ExAC TOPMed gnomAD
CA366080300 rs1165389894	445	N>D		No	ClinGen TOPMed
CA366080269 rs1331264302	446	K>Q		No	ClinGen gnomAD
CA4050467 rs538122055	446	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1227925246 CA366080224	449	K>E		No	ClinGen gnomAD
COSM326901 rs766015279 CA4050465	461	N>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4050462 rs771525122	469	Q>R		No	ClinGen ExAC gnomAD
CA150123430 rs915355941	473	S>L		No	ClinGen gnomAD
rs1459302026 CA366079866	473	S>T		No	ClinGen gnomAD
rs1400646598 CA366079856	474	D>G		No	ClinGen TOPMed
CA366079861 rs1203026887	474	D>N		No	ClinGen Ensembl
rs776038078 CA4050460	475	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA150123402 rs932780925	478	L>P		No	ClinGen TOPMed
CA4050459 rs770302590	479	D>A		No	ClinGen ExAC gnomAD
CA4050457 rs529081721	480	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4050456 rs140845831	482	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1225710987 CA366079792	485	L>V		No	ClinGen gnomAD
rs976996186 CA150123350	487	G>V		No	ClinGen Ensembl
rs758464418 CA4050453	489	G>E		No	ClinGen ExAC gnomAD
rs146411183 CA4050454	489	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1266996520 CA366079760	490	D>V		No	ClinGen TOPMed
CA4050452 rs144152721	491	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4050450 rs754997786	493	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4050449 rs145574107	494	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4050447 rs760347400	496	P>L		No	ClinGen ExAC gnomAD
CA150123321 rs139557908	497	D>H		No	ClinGen ESP TOPMed
CA4050446 rs772809971 COSM3662203	497	D>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs755594555 CA366079712	498	H>L		No	ClinGen ExAC TOPMed gnomAD
rs755594555 CA4050445	498	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1433598131 CA366079708	499	P>T		No	ClinGen TOPMed gnomAD
rs1351134385 CA366079675	502	A>S		No	ClinGen gnomAD
TCGA novel	503	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs35997444 CA150123307	503	S>Y		No	ClinGen gnomAD
CA366079598 rs1369270185	507	E>*		No	ClinGen TOPMed
COSM108551 rs143773461 CA150123291	509	E>K	lung Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	509	E>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560530881 CA4050442	511	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366079527 rs560530881	511	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1420799742 CA366079474	514	D>V		No	ClinGen TOPMed

No associated diseases with Q8N680

5 regional properties for Q8N680

Type	Name	Position	InterPro Accession
domain	BTB/POZ domain	14 - 117	IPR000210
domain	Zinc finger C2H2-type	254 - 278	IPR013087-1
domain	Zinc finger C2H2-type	363 - 390	IPR013087-2
domain	Zinc finger C2H2-type	390 - 410	IPR013087-3
domain	Zinc finger C2H2-type	448 - 468	IPR013087-4

Functions

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

1 GO annotations of cellular component

Name	Definition
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

5 GO annotations of molecular function

Name	Definition
DNA-binding transcription repressor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
identical protein binding	Binding to an identical protein or proteins.
metal ion binding	Binding to a metal ion.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

2 GO annotations of biological process

Name	Definition
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.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

178 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q08DS3	OSR1	Protein odd-skipped-related 1	Bos taurus (Bovine)	PR
Q2VWH6	FEZF2	Fez family zinc finger protein 2	Bos taurus (Bovine)	PR
A6QNZ0	ZSCAN26	Zinc finger and SCAN domain-containing protein 26	Bos taurus (Bovine)	PR
A7MBI1	ZFP69	Zinc finger protein 69 homolog	Bos taurus (Bovine)	PR
Q08705	CTCF	Transcriptional repressor CTCF	Gallus gallus (Chicken)	PR
O42409	GFI1B	Zinc finger protein Gfi-1b	Gallus gallus (Chicken)	PR
A2T6W2	ZNF449	Zinc finger protein 449	Pan troglodytes (Chimpanzee)	PR
Q9U405	grau	Transcription factor grauzone	Drosophila melanogaster (Fruit fly)	PR
Q7K0S9	sug	Zinc finger protein GLIS2 homolog	Drosophila melanogaster (Fruit fly)	PR
P20385	Cf2	Chorion transcription factor Cf2	Drosophila melanogaster (Fruit fly)	PR
Q86P48	ATbp	AT-rich binding protein	Drosophila melanogaster (Fruit fly)	PR
P28698	MZF1	Myeloid zinc finger 1	Homo sapiens (Human)	PR
Q9NTW7	ZFP64	Zinc finger protein 64	Homo sapiens (Human)	PR
O14978	ZNF263	Zinc finger protein 263	Homo sapiens (Human)	PR
O60304	ZNF500	Zinc finger protein 500	Homo sapiens (Human)	PR
P08151	GLI1	Zinc finger protein GLI1	Homo sapiens (Human)	PR
Q9UFB7	ZBTB47	Zinc finger and BTB domain-containing protein 47	Homo sapiens (Human)	PR
P18146	EGR1	Early growth response protein 1	Homo sapiens (Human)	PR
Q9Y5W3	KLF2	Krueppel-like factor 2	Homo sapiens (Human)	PR
Q9UNY5	ZNF232	Zinc finger protein 232	Homo sapiens (Human)	PR
Q96SZ4	ZSCAN10	Zinc finger and SCAN domain-containing protein 10	Homo sapiens (Human)	PR
P17028	ZNF24	Zinc finger protein 24	Homo sapiens (Human)	PR
P57682	KLF3	Krueppel-like factor 3	Homo sapiens (Human)	PR
P25490	YY1	Transcriptional repressor protein YY1	Homo sapiens (Human)	SS
O43296	ZNF264	Zinc finger protein 264	Homo sapiens (Human)	PR
P49711	CTCF	Transcriptional repressor CTCF	Homo sapiens (Human)	PR
Q9NQX1	PRDM5	PR domain zinc finger protein 5	Homo sapiens (Human)	PR
Q8TAX0	OSR1	Protein odd-skipped-related 1	Homo sapiens (Human)	PR
Q9UL58	ZNF215	Zinc finger protein 215	Homo sapiens (Human)	PR
Q8TBJ5	FEZF2	Fez family zinc finger protein 2	Homo sapiens (Human)	PR
Q96SR6	ZNF382	Zinc finger protein 382	Homo sapiens (Human)	PR
Q96IT1	ZNF496	Zinc finger protein 496	Homo sapiens (Human)	PR
Q96N95	ZNF396	Zinc finger protein 396	Homo sapiens (Human)	PR
Q9ULJ3	ZBTB21	Zinc finger and BTB domain-containing protein 21	Homo sapiens (Human)	PR
O75840	KLF7	Krueppel-like factor 7	Homo sapiens (Human)	PR
Q9H9D4	ZNF408	Zinc finger protein 408	Homo sapiens (Human)	PR
Q13127	REST	RE1-silencing transcription factor	Homo sapiens (Human)	PR
Q8IZM8	ZNF654	Zinc finger protein 654	Homo sapiens (Human)	PR
Q14526	HIC1	Hypermethylated in cancer 1 protein	Homo sapiens (Human)	PR
P17022	ZNF18	Zinc finger protein 18	Homo sapiens (Human)	PR
Q86XF7	ZNF575	Zinc finger protein 575	Homo sapiens (Human)	PR
Q06889	EGR3	Early growth response protein 3	Homo sapiens (Human)	PR
Q8NAM6	ZSCAN4	Zinc finger and SCAN domain-containing protein 4	Homo sapiens (Human)	PR
Q08ER8	ZNF543	Zinc finger protein 543	Homo sapiens (Human)	PR
P17029	ZKSCAN1	Zinc finger protein with KRAB and SCAN domains 1	Homo sapiens (Human)	PR
O95625	ZBTB11	Zinc finger and BTB domain-containing protein 11	Homo sapiens (Human)	PR
Q9NPC7	MYNN	Myoneurin	Homo sapiens (Human)	PR
Q96BV0	ZNF775	Zinc finger protein 775	Homo sapiens (Human)	PR
Q8NF99	ZNF397	Zinc finger protein 397	Homo sapiens (Human)	PR
Q63HK3	ZKSCAN2	Zinc finger protein with KRAB and SCAN domains 2	Homo sapiens (Human)	PR
Q5FWF6	ZNF789	Zinc finger protein 789	Homo sapiens (Human)	PR
Q15776	ZKSCAN8	Zinc finger protein with KRAB and SCAN domains 8	Homo sapiens (Human)	PR
Q53GI3	ZNF394	Zinc finger protein 394	Homo sapiens (Human)	PR
O95125	ZNF202	Zinc finger protein 202	Homo sapiens (Human)	PR
Q05516	ZBTB16	Zinc finger and BTB domain-containing protein 16	Homo sapiens (Human)	PR
Q9H116	GZF1	GDNF-inducible zinc finger protein 1	Homo sapiens (Human)	PR
Q8N0Y2	ZNF444	Zinc finger protein 444	Homo sapiens (Human)	PR
Q6P9G9	ZNF449	Zinc finger protein 449	Homo sapiens (Human)	PR
Q8IW36	ZNF695	Zinc finger protein 695	Homo sapiens (Human)	PR
Q5VTD9	GFI1B	Zinc finger protein Gfi-1b	Homo sapiens (Human)	PR
Q6PG37	ZNF790	Zinc finger protein 790	Homo sapiens (Human)	PR
Q9NQV6	PRDM10	PR domain zinc finger protein 10	Homo sapiens (Human)	PR
Q9Y2D9	ZNF652	Zinc finger protein 652	Homo sapiens (Human)	PR
Q9Y4E5	ZNF451	E3 SUMO-protein ligase ZNF451	Homo sapiens (Human)	PR
Q8ND82	ZNF280C	Zinc finger protein 280C	Homo sapiens (Human)	PR
Q49AA0	ZFP69	Zinc finger protein 69 homolog	Homo sapiens (Human)	PR
O43298	ZBTB43	Zinc finger and BTB domain-containing protein 43	Homo sapiens (Human)	PR
P51508	ZNF81	Zinc finger protein 81	Homo sapiens (Human)	PR
Q5JNZ3	ZNF311	Zinc finger protein 311	Homo sapiens (Human)	PR
Q9BRR0	ZKSCAN3	Zinc finger protein with KRAB and SCAN domains 3	Homo sapiens (Human)	PR
Q969J2	ZKSCAN4	Zinc finger protein with KRAB and SCAN domains 4	Homo sapiens (Human)	PR
P49910	ZNF165	Zinc finger protein 165	Homo sapiens (Human)	PR
Q9Y4X4	KLF12	Krueppel-like factor 12	Homo sapiens (Human)	PR
P10074	ZBTB48	Telomere zinc finger-associated protein	Homo sapiens (Human)	PR
P17010	ZFX	Zinc finger X-chromosomal protein	Homo sapiens (Human)	PR
Q9H5H4	ZNF768	Zinc finger protein 768	Homo sapiens (Human)	PR
Q6NSZ9	ZSCAN25	Zinc finger and SCAN domain-containing protein 25	Homo sapiens (Human)	PR
Q9Y2L8	ZKSCAN5	Zinc finger protein with KRAB and SCAN domains 5	Homo sapiens (Human)	PR
Q86UZ6	ZBTB46	Zinc finger and BTB domain-containing protein 46	Homo sapiens (Human)	PR
Q9NX65	ZSCAN32	Zinc finger and SCAN domain-containing protein 32	Homo sapiens (Human)	PR
O14771	ZNF213	Zinc finger protein 213	Homo sapiens (Human)	PR
Q8IWY8	ZSCAN29	Zinc finger and SCAN domain-containing protein 29	Homo sapiens (Human)	PR
Q8NCP5	ZBTB44	Zinc finger and BTB domain-containing protein 44	Homo sapiens (Human)	PR
Q9NQX0	PRDM6	Putative histone-lysine N-methyltransferase PRDM6	Homo sapiens (Human)	PR
Q9BU19	ZNF692	Zinc finger protein 692	Homo sapiens (Human)	PR
Q08AG5	ZNF844	Zinc finger protein 844	Homo sapiens (Human)	PR
Q6R2W3	ZBED9	SCAN domain-containing protein 3	Homo sapiens (Human)	PR
P98182	ZNF200	Zinc finger protein 200	Homo sapiens (Human)	PR
Q9UK11	ZNF223	Zinc finger protein 223	Homo sapiens (Human)	PR
O15156	ZBTB7B	Zinc finger and BTB domain-containing protein 7B	Homo sapiens (Human)	PR
Q6ZMS7	ZNF783	Zinc finger protein 783	Homo sapiens (Human)	PR
P59923	ZNF445	Zinc finger protein 445	Homo sapiens (Human)	PR
Q8N859	ZNF713	Zinc finger protein 713	Homo sapiens (Human)	PR
Q99612	KLF6	Krueppel-like factor 6	Homo sapiens (Human)	PR
Q8TD17	ZNF398	Zinc finger protein 398	Homo sapiens (Human)	PR
A6NGD5	ZSCAN5C	Zinc finger and SCAN domain-containing protein 5C	Homo sapiens (Human)	PR
Q05215	EGR4	Early growth response protein 4	Homo sapiens (Human)	PR
Q7Z398	ZNF550	Zinc finger protein 550	Homo sapiens (Human)	PR
Q96N20	ZNF75A	Zinc finger protein 75A	Homo sapiens (Human)	PR
A6NJL1	ZSCAN5B	Zinc finger and SCAN domain-containing protein 5B	Homo sapiens (Human)	PR
A1YPR0	ZBTB7C	Zinc finger and BTB domain-containing protein 7C	Homo sapiens (Human)	PR
Q9NWS9	ZNF446	Zinc finger protein 446	Homo sapiens (Human)	PR
Q96N38	ZNF714	Zinc finger protein 714	Homo sapiens (Human)	PR
Q86YH2	ZNF280B	Zinc finger protein 280B	Homo sapiens (Human)	PR
P24278	ZBTB25	Zinc finger and BTB domain-containing protein 25	Homo sapiens (Human)	PR
Q9Y330	ZBTB12	Zinc finger and BTB domain-containing protein 12	Homo sapiens (Human)	PR
Q9Y2K1	ZBTB1	Zinc finger and BTB domain-containing protein 1	Homo sapiens (Human)	PR
P41182	BCL6	B-cell lymphoma 6 protein	Homo sapiens (Human)	PR
Q5TC79	ZBTB37	Zinc finger and BTB domain-containing protein 37	Homo sapiens (Human)	PR
Q9HBE1	PATZ1	POZ-, AT hook-, and zinc finger-containing protein 1	Homo sapiens (Human)	PR
P52739	ZNF131	Zinc finger protein 131	Homo sapiens (Human)	PR
Q13105	ZBTB17	Zinc finger and BTB domain-containing protein 17	Homo sapiens (Human)	PR
O08584	Klf6	Krueppel-like factor 6	Mus musculus (Mouse)	PR
Q61164	Ctcf	Transcriptional repressor CTCF	Mus musculus (Mouse)	PR
Q810A1	Znf18	Zinc finger protein 18	Mus musculus (Mouse)	PR
Q8BGS3	Zkscan1	Zinc finger protein with KRAB and SCAN domains 1	Mus musculus (Mouse)	PR
Q00899	Yy1	Transcriptional repressor protein YY1	Mus musculus (Mouse)	PR
P41183	Bcl6	B-cell lymphoma 6 protein homolog	Mus musculus (Mouse)	PR
Q9DAI4	Zbtb43	Zinc finger and BTB domain-containing protein 43	Mus musculus (Mouse)	PR
O70237	Gfi1b	Zinc finger protein Gfi-1b	Mus musculus (Mouse)	PR
Q99KZ6	Znf639	Zinc finger protein 639	Mus musculus (Mouse)	PR
Q9Z1D9	Znf394	Zinc finger protein 394	Mus musculus (Mouse)	PR
Q9CXE0	Prdm5	PR domain zinc finger protein 5	Mus musculus (Mouse)	PR
P43300	Egr3	Early growth response protein 3	Mus musculus (Mouse)	PR
Q9DAU9	Znf654	Zinc finger protein 654	Mus musculus (Mouse)	PR
Q9R1Y5	Hic1	Hypermethylated in cancer 1 protein	Mus musculus (Mouse)	PR
Q8R0T2	Znf768	Zinc finger protein 768	Mus musculus (Mouse)	PR
Q9WVG7	Osr1	Protein odd-skipped-related 1	Mus musculus (Mouse)	PR
Q8BI73	Znf775	Zinc finger protein 775	Mus musculus (Mouse)	PR
Q8VCZ7	Zbtb7c	Zinc finger and BTB domain-containing protein 7C	Mus musculus (Mouse)	PR
Q91VN1	Znf24	Zinc finger protein 24	Mus musculus (Mouse)	PR
Q9DB38	Znf580	Zinc finger protein 580	Mus musculus (Mouse)	PR
A7KBS4	Zscan4d	Zinc finger and SCAN domain containing protein 4D	Mus musculus (Mouse)	PR
Q91VW9	Zkscan3	Zinc finger protein with KRAB and SCAN domains 3	Mus musculus (Mouse)	PR
P10925	Zfy1	Zinc finger Y-chromosomal protein 1	Mus musculus (Mouse)	PR
P08046	Egr1	Early growth response protein 1	Mus musculus (Mouse)	PR
Q3TTC2	Yy2	Transcription factor YY2	Mus musculus (Mouse)	PR
Q3UTQ7	Prdm10	PR domain zinc finger protein 10	Mus musculus (Mouse)	PR
Q6P3Y5	Znf280c	Zinc finger protein 280C	Mus musculus (Mouse)	PR
Q9ERU3	Znf22	Zinc finger protein 22	Mus musculus (Mouse)	PR
Q8VIG1	Rest	RE1-silencing transcription factor	Mus musculus (Mouse)	PR
Q9Z1D8	Zkscan5	Zinc finger protein with KRAB and SCAN domains 5	Mus musculus (Mouse)	PR
Q8BID6	Zbtb46	Zinc finger and BTB domain-containing protein 46	Mus musculus (Mouse)	PR
P17012	Zfx	Zinc finger X-chromosomal protein	Mus musculus (Mouse)	PR
Q9WUK6	Zbtb18	Zinc finger and BTB domain-containing protein 18	Mus musculus (Mouse)	PR
O35738	Klf12	Krueppel-like factor 12	Mus musculus (Mouse)	PR
B2RXC5	Znf382	Zinc finger protein 382	Mus musculus (Mouse)	PR
O08900	Ikzf3	Zinc finger protein Aiolos	Mus musculus (Mouse)	PR
Q5DU09	Znf652	Zinc finger protein 652	Mus musculus (Mouse)	PR
Q5RJ54	Zscan26	Zinc finger and SCAN domain-containing protein 26	Mus musculus (Mouse)	PR
Q8BLM0	Klf8	Krueppel-like factor 8	Mus musculus (Mouse)	PR
Q99JB0	Klf7	Krueppel-like factor 7	Mus musculus (Mouse)	PR
Q8R0A2	Zbtb44	Zinc finger and BTB domain-containing protein 44	Mus musculus (Mouse)	PR
P20662	Zfy2	Zinc finger Y-chromosomal protein 2	Mus musculus (Mouse)	PR
Q80VJ6	Zscan4c	Zinc finger and SCAN domain containing protein 4C	Mus musculus (Mouse)	PR
Q3URS2	Zscan4f	Zinc finger and SCAN domain containing protein 4F	Mus musculus (Mouse)	PR
Q60980	Klf3	Krueppel-like factor 3	Mus musculus (Mouse)	PR
Q8K3J5	Znf131	Zinc finger protein 131	Mus musculus (Mouse)	PR
Q9Z2K3	Znf394	Zinc finger protein 394	Rattus norvegicus (Rat)	PR
Q642B9	Znf18	Zinc finger protein 18	Rattus norvegicus (Rat)	PR
B0K011	Osr1	Protein odd-skipped-related 1	Rattus norvegicus (Rat)	PR
D3ZUU2	Gzf1	GDNF-inducible zinc finger protein 1	Rattus norvegicus (Rat)	PR
B1WBU4	Zbtb8a	Zinc finger and BTB domain-containing protein 8A	Rattus norvegicus (Rat)	PR
Q7TNK3	Znf24	Zinc finger protein 24	Rattus norvegicus (Rat)	PR
O35819	Klf6	Krueppel-like factor 6	Rattus norvegicus (Rat)	PR
Q9R1D1	Ctcf	Transcriptional repressor CTCF	Rattus norvegicus (Rat)	PR
P43301	Egr3	Early growth response protein 3	Rattus norvegicus (Rat)	PR
P08154	Egr1	Early growth response protein 1	Rattus norvegicus (Rat)	PR
A0JPL0	Znf382	Zinc finger protein 382	Rattus norvegicus (Rat)	PR
Q4KLI1	Zkscan1	Zinc finger protein with KRAB and SCAN domains 1	Rattus norvegicus (Rat)	PR
A1L1J6	Znf652	Zinc finger protein 652	Rattus norvegicus (Rat)	PR
Q9SHD0	ZAT4	Zinc finger protein ZAT4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LFU0	DOT3	BTB/POZ domain-containing protein DOT3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q0P4X6	zbtb44	Zinc finger and BTB domain-containing protein 44	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
A4II20	egr1	Early growth response protein 1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q6P882	zbtb8a.2	Zinc finger and BTB domain-containing protein 8A.2	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q567C6	znf367	Zinc finger protein 367	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
A7Y7X5	znf711	Zinc finger protein 711	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MDLANHGLIL	LQQLNAQREF	GFLCDCTVAI	GDVYFKAHKS	VLASFSNYFK	MLFVHQTSEC
70	80	90	100	110	120
VRLKPTDIQP	DIFSYLLHLM	YTGKMAPQLI	DPVRLEQGIK	FLHAYPLIQE	ASLASQGAFS
130	140	150	160	170	180
HPDQVFPLAS	SLYGIQIADH	QLRQATKIAS	APEKLGRDPR	PQTSRISQEQ	VPEASQLSQL
190	200	210	220	230	240
TSNLAQVNRT	NMTPSDPLQT	SLSPELVSTP	VPPPPPGEET	NLEASSSDEQ	PASLTIAHVK
250	260	270	280	290	300
PSIMKRNGSF	PKYYACHLCG	RRFTLRSSLR	EHLQIHTGVP	FTSSQQGESR	VPLTLCSNAA
310	320	330	340	350	360
DLGKDAMEVP	EAGMISDSEL	QHISDSPIID	GQQQSETPPP	SDIADIDNLE	QADQEREVKR
370	380	390	400	410	420
RKYECTICGR	KFIQKSHWRE	HMYIHTGKPF	KCSTCDKSFC	RANQAARHVC	LNQSIDTYTM
430	440	450	460	470	480
VDKQTLELCT	FEEGSQMDNM	LVQTNKPYKC	NLCDKTFSTP	NEVVKHSCQN	QNSDVFALDE
490	500	510
GRSILLGSGD	SEVTEPDHPV	LASIKKEQET	VLLD