AiPD: Autoinhibited Protein Database

Q9NPC8

Gene name	SIX2
Protein name	Homeobox protein SIX2
Names	Sine oculis homeobox homolog 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10736
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

74-291 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

74-291 (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 Q9NPC8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NPC8-F1	Predicted				AlphaFoldDB

249 variants for Q9NPC8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1642490 RCV001853346 rs372153489 RCV000416570	236	P>L	Congenital anomaly of kidney and urinary tract [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA346802706 rs1471143290	2	S>A		No	ClinGen gnomAD
CA346802699 rs1572650296	3	M>T		No	ClinGen Ensembl
rs760590442 CA1642643	3	M>V		No	ClinGen ExAC TOPMed gnomAD
rs773074130 CA1642642	5	P>S		No	ClinGen ExAC gnomAD
rs1451062432 CA346802668	8	G>C		No	ClinGen TOPMed gnomAD
CA346802635 rs1279326999	12	E>D		No	ClinGen TOPMed gnomAD
CA346802642 rs1349228254	12	E>K		No	ClinGen gnomAD
rs1235394611 CA346802632	13	Q>*		No	ClinGen gnomAD
rs768328129 CA1642638	14	V>A		No	ClinGen ExAC gnomAD
TCGA novel	16	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	17	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348763009 CA346802596	18	C>Y		No	ClinGen gnomAD
rs1402361886 CA346802581	20	V>A		No	ClinGen gnomAD
rs1382783878 CA346802565	23	Q>*		No	ClinGen gnomAD
rs759005649 CA1642632	24	G>S		No	ClinGen ExAC gnomAD
CA346802552 rs748497053	25	G>C		No	ClinGen ExAC TOPMed gnomAD
CA1642630 rs779195505	25	G>D		No	ClinGen ExAC gnomAD
CA346802553 rs748497053	25	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748497053 CA1642631	25	G>S		No	ClinGen ExAC TOPMed gnomAD
rs755198683 CA1642629	27	I>M		No	ClinGen ExAC gnomAD
CA346802532 rs1477849344	28	E>A		No	ClinGen gnomAD
CA346802535 rs1461446076	28	E>K		No	ClinGen TOPMed
CA1642628 rs754064188	29	R>W		No	ClinGen ExAC TOPMed gnomAD
CA346802518 rs1445356095	31	G>S		No	ClinGen gnomAD
rs1572650203 CA346802507	32	R>H		No	ClinGen Ensembl
rs1193162317 CA346802477	37	L>V		No	ClinGen TOPMed
TCGA novel	40	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346802458 rs1170824168	40	C>Y		No	ClinGen TOPMed
CA1642624 rs767389980	41	E>K		No	ClinGen ExAC gnomAD
CA1642623 rs141233412	42	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs142188105 CA1642622 VAR_071207	43	L>F	a renal hypodysplasia patient [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs761885079 CA1642621	44	H>R		No	ClinGen ExAC gnomAD
rs762656667 CA346802427	45	K>E		No	ClinGen ExAC TOPMed gnomAD
rs762656667 CA1642620	45	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1318978237 CA346802403	48	S>G		No	ClinGen TOPMed
CA346802396 rs1377023303	49	V>L		No	ClinGen gnomAD
CA346802388 rs1162669421	50	L>F		No	ClinGen gnomAD
rs1328060990 CA346802376	52	A>T		No	ClinGen TOPMed
rs775227612 CA1642619	55	V>L		No	ClinGen ExAC gnomAD
rs772685693 CA346802323	60	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772685693 CA1642615	60	R>G		No	ClinGen ExAC gnomAD
rs772685693 CA1642616	60	R>S		No	ClinGen ExAC gnomAD
rs748645065 CA1642614	63	F>I		No	ClinGen ExAC
rs1476186900 CA346802300	63	F>L		No	ClinGen gnomAD
CA1642613 rs541992883	64	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs749666764 CA1642611	66	L>F		No	ClinGen ExAC gnomAD
rs1308451126 CA346802276	67	Y>C	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA346802265 rs1273204133	68	K>N		No	ClinGen TOPMed gnomAD
rs1323853697 CA346802263	69	I>V		No	ClinGen TOPMed
TCGA novel	70	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750476114 CA1642608	76	S>L		No	ClinGen ExAC gnomAD
rs757211278 CA1642606	77	P>L		No	ClinGen ExAC TOPMed gnomAD
CA47020154 rs916070659	77	P>S		No	ClinGen Ensembl
TCGA novel	78	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172750431 CA346802185	80	H>Y		No	ClinGen gnomAD
rs1408470316 CA346802177	81	A>S		No	ClinGen gnomAD
CA346802174 rs1422985242	81	A>V		No	ClinGen gnomAD
CA1642605 rs751507324	83	L>M		No	ClinGen ExAC gnomAD
CA47020152 COSM1021118 rs11540435	85	Q>*	Variant assessed as Somatic; impact. endometrium prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA346802148 rs1255942874	85	Q>H		No	ClinGen TOPMed gnomAD
CA346802149 rs1476471051	85	Q>L		No	ClinGen gnomAD
CA47020151 rs372580849	86	L>V		No	ClinGen ESP TOPMed
rs1481138422 CA346802114	90	A>V		No	ClinGen gnomAD
rs762591882 CA1642603	93	I>V		No	ClinGen ExAC gnomAD
rs202091722 CA1642602	94	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1256860344 CA346802084	95	A>T		No	ClinGen TOPMed gnomAD
rs1201927647 CA346802066	97	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs370882250 CA1642599	98	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	99	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs563107358 CA1642598	100	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA346802044 rs1474185385	101	R>P		No	ClinGen gnomAD
TCGA novel	102	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403498689 CA346802025	105	A>T		No	ClinGen TOPMed
TCGA novel	110	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164647831 CA346801977	112	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1558440805 CA346801973 RCV000723093	113	R>C		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	119	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346801908 rs1469386806	122	W>*		No	ClinGen gnomAD
rs1243948703 CA346801897	124	G>R		No	ClinGen gnomAD
TCGA novel	125	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1642593 rs780441973	126	E>D		No	ClinGen ExAC gnomAD
CA1642592 rs769968755	128	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1558440775 CA346801835	132	K>M		No	ClinGen Ensembl
CA346801823 rs1375897164	134	K>E		No	ClinGen gnomAD
rs1443425620 CA346801796	137	S>R		No	ClinGen TOPMed gnomAD
rs746152954 CA1642591	138	V>L		No	ClinGen ExAC gnomAD
TCGA novel	141	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781233805 CA1642590	141	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1353506423 CA346801753	144	A>T		No	ClinGen TOPMed
rs774627372 CA47020147	144	A>V		No	ClinGen gnomAD
rs777532216 CA1642587	145	H>D		No	ClinGen ExAC TOPMed gnomAD
CA346801733 rs758383352	147	P>A		No	ClinGen ExAC gnomAD
CA1642586 rs758383352	147	P>S		No	ClinGen ExAC gnomAD
rs1572649912 CA346801725	148	Y>S		No	ClinGen Ensembl
CA1642585 rs752521871	151	P>L		No	ClinGen ExAC TOPMed gnomAD
CA346801702 rs1208795514	152	R>C		No	ClinGen gnomAD
CA1642583 rs369994485	152	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA
rs1485912555 CA346801698	153	E>Q		No	ClinGen gnomAD
rs753606261 CA1642582	156	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs17856709 CA47020146	158	A>T		No	ClinGen Ensembl
rs1214390648 CA346801656	159	E>G		No	ClinGen TOPMed gnomAD
CA47020145 rs4143307	160	A>P		No	ClinGen Ensembl
rs766057817 CA1642581	160	A>V		No	ClinGen ExAC TOPMed gnomAD
CA346801643 rs1365366403	161	T>M		No	ClinGen TOPMed
rs1329630486 CA346801639	162	G>V		No	ClinGen gnomAD
rs772796826 CA1642579	164	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1382789688 CA346801620	165	T>I		No	ClinGen gnomAD
rs763491151 CA1642577	167	Q>P		No	ClinGen ExAC gnomAD
CA346801604 rs1419665425	168	V>I		No	ClinGen gnomAD
CA1642576 rs775827253	169	S>R		No	ClinGen ExAC gnomAD
CA346801576 rs1375503887	172	F>L		No	ClinGen gnomAD
CA346801549 rs1426004280	175	R>P		No	ClinGen TOPMed
TCGA novel	176	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346801518 rs1263265447	180	R>Q		No	ClinGen gnomAD
rs776652900 CA1642573	180	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1191384463 CA346801515	181	A>P		No	ClinGen gnomAD
CA346801508 rs1280768384	182	A>S		No	ClinGen gnomAD
CA1642570 rs777958524	183	E>K		No	ClinGen ExAC gnomAD
rs758241331 CA1642569	185	K>R		No	ClinGen ExAC TOPMed gnomAD
CA346801484 rs1391568042	186	E>K		No	ClinGen TOPMed
CA1642568 rs748167157	187	R>G		No	ClinGen ExAC gnomAD
rs200344733 CA47019885	189	N>D		No	ClinGen TOPMed
CA346801439 rs1194969033	190	N>D		No	ClinGen TOPMed gnomAD
rs1356335988 CA346801435	190	N>S		No	ClinGen TOPMed gnomAD
CA47019884 rs766837477	191	E>K		No	ClinGen ExAC
CA1642535 rs766837477	191	E>Q		No	ClinGen ExAC
CA1642533 rs760797511	192	N>K		No	ClinGen ExAC gnomAD
CA346801425 rs1241543297	192	N>Y		No	ClinGen gnomAD
CA346801406 rs1306574028	194	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA346801409 rs1572648555	194	N>S		No	ClinGen Ensembl
rs773427889 CA1642532	195	S>T		No	ClinGen ExAC gnomAD
rs200287647 CA346801397	196	N>I		No	ClinGen ExAC TOPMed gnomAD
rs200287647 CA1642531	196	N>S		No	ClinGen ExAC TOPMed gnomAD
CA47019883 rs200287647	196	N>T		No	ClinGen ExAC TOPMed gnomAD
rs761932667 CA1642530	199	N>S		No	ClinGen ExAC
CA346801375 rs761932667	199	N>T		No	ClinGen ExAC
CA1642528 rs768678682	200	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1642529 rs768678682	200	P>R		No	ClinGen ExAC TOPMed gnomAD
CA346801369 rs1389842225	200	P>S		No	ClinGen gnomAD
rs779699277 CA1642526	201	L>P		No	ClinGen ExAC gnomAD
rs1572648511 CA346801356	202	N>K		No	ClinGen Ensembl
rs1301911629 CA346801360	202	N>T		No	ClinGen TOPMed
rs1313834146 CA346801352	203	G>D		No	ClinGen TOPMed
rs1274235733 CA346801346	204	S>N		No	ClinGen gnomAD
rs780785395 CA1642523	205	G>S		No	ClinGen ExAC TOPMed gnomAD
CA346801337 rs1353780152	205	G>V		No	ClinGen TOPMed
CA1642521 rs756926148	207	S>L		No	ClinGen ExAC TOPMed gnomAD
CA346801322 rs1190926704	208	V>L		No	ClinGen TOPMed
rs1190926704 CA346801323	208	V>M		No	ClinGen TOPMed
rs777305156 CA1642519	209	L>S		No	ClinGen ExAC
CA1642518 rs755475328	210	G>A		No	ClinGen ExAC gnomAD
CA346801305 rs1351919311	211	S>G		No	ClinGen TOPMed gnomAD
rs375228554 CA1642516	212	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1285812583 CA346801297	212	S>P		No	ClinGen gnomAD
rs375228554 CA47019881	212	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	213	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276252658 CA346801293	213	E>K		No	ClinGen gnomAD
CA346801280 rs1441777211	214	D>E		No	ClinGen TOPMed gnomAD
rs202035375 CA1642513	215	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1642510 rs199560829	217	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs267599389 CA1642509	218	P>L		No	ClinGen ExAC gnomAD
rs267599390 CA47019880	218	P>S		No	ClinGen Ensembl
rs762954429 CA1642508	219	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368309754 CA1642505	220	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1642504 rs368309754	220	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1642502 rs929368932	221	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs770541388 CA1642501	222	P>T		No	ClinGen ExAC gnomAD
rs1572648392 CA346801224	224	H>P		No	ClinGen Ensembl
CA346801209 rs1196438825	226	S>L		No	ClinGen gnomAD
TCGA novel	228	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	230	A>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	230	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777256147 CA1642499	230	A>T		No	ClinGen ExAC TOPMed gnomAD
rs747619226 CA1642497	231	L>P		No	ClinGen ExAC gnomAD
CA346801180 rs747619226	231	L>R		No	ClinGen ExAC gnomAD
rs757871683 CA1642498	231	L>V		No	ClinGen ExAC gnomAD
CA1642496 rs148356487	232	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374628970 CA1642495	232	L>P		No	ClinGen ESP ExAC gnomAD
rs148356487 CA346801179	232	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750781834 CA1642494	234	S>G		No	ClinGen ExAC gnomAD
CA346801164 rs1572648360	234	S>R		No	ClinGen Ensembl
rs143323460 CA1642493	235	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA346801160 COSM4141118 rs1278334054	235	P>S	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs751772244 CA1642491	236	P>A		No	ClinGen ExAC gnomAD
CA1642489 rs763047709 COSM3799028	237	P>S	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763047709 CA346801153	237	P>T		No	ClinGen ExAC TOPMed gnomAD
rs74473757 CA1642488	238	P>L		No	ClinGen ExAC
rs74473757 CA47019877	238	P>R		No	ClinGen ExAC
rs368542610 CA47019875	239	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs368542610 CA1642487	239	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178977297 CA346801142	239	G>W		No	ClinGen TOPMed
CA1642486 rs147806994 VAR_071208	241	P>L	a renal hypodysplasia patient [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147806994 CA47019874	241	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs955789502 CA47019873	244	H>D		No	ClinGen Ensembl
rs770774500 CA1642484	245	S>G		No	ClinGen ExAC gnomAD
rs267599388 CA47019872	247	G>S		No	ClinGen Ensembl
rs1207562028 CA346801090	248	H>Q		No	ClinGen gnomAD
CA1642482 rs772787033	249	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1258142065 CA346801080	250	P>L		No	ClinGen gnomAD
CA346801074 rs1558439771	251	G>D		No	ClinGen Ensembl
rs747669139 CA1642480	251	G>S		No	ClinGen ExAC gnomAD
rs1558439766 CA346801065	253	S>G		No	ClinGen Ensembl
rs191828218 CA47019871	253	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756635283 CA346801059	254	A>S		No	ClinGen ExAC TOPMed gnomAD
rs756635283 CA1642478 RCV000430726	254	A>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1642477 rs201764520	254	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs140763514 CA1642475	255	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752002260 CA1642474	256	P>L		No	ClinGen ExAC gnomAD
rs764326435 CA1642473	257	V>M		No	ClinGen ExAC gnomAD
COSM575239 rs373961258 CA1642471	258	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1642472 rs373961258	258	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA346801024 rs1426126643	261	G>S		No	ClinGen TOPMed gnomAD
rs766312512 CA1642466	262	G>R		No	ClinGen ExAC TOPMed gnomAD
CA346801013 rs1182666595	263	G>S		No	ClinGen TOPMed
CA1642464 rs146753226	264	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346800999 rs761435514	265	A>G		No	ClinGen ExAC gnomAD
rs771722023 CA346801001	265	A>S		No	ClinGen ExAC TOPMed gnomAD
rs771722023 CA1642463	265	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1642462 rs761435514	265	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA346800996 rs1323497287	266	D>A		No	ClinGen gnomAD
rs1038178246 CA47019870	266	D>H		No	ClinGen Ensembl
rs1227471715 CA346800977	269	Q>P		No	ClinGen gnomAD
rs938226527 CA346800966	270	H>Q		No	ClinGen gnomAD
rs1332096871 CA346800952	272	H>R		No	ClinGen TOPMed
rs1399615363 CA346800956	272	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	273	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370231701 CA1642457	273	G>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	276	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_071209 CA1642454 rs201675842	276	D>N	a renal hypodysplasia patient [UniProt]	No	ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD
rs779212821 CA1642452	277	S>F		No	ClinGen ExAC gnomAD
CA1642453 rs752920874	277	S>T		No	ClinGen ExAC gnomAD
rs754988790 CA1642451	279	L>V		No	ClinGen ExAC gnomAD
rs751880162 CA47019867	280	N>D		No	ClinGen Ensembl
CA1642450 rs753952589	280	N>S		No	ClinGen ExAC gnomAD
rs1156338487 CA346800898	281	P>S		No	ClinGen gnomAD
CA346800893 rs1489182063	282	M>V		No	ClinGen gnomAD
TCGA novel	284	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766259257 CA1642449	284	A>V		No	ClinGen ExAC gnomAD
CA346800874 rs1572648156	285	N>H		No	ClinGen Ensembl
CA1642447 rs750226051	285	N>K		No	ClinGen ExAC gnomAD
rs544354787 CA1642448	285	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1642445 rs773807534	287	V>L		No	ClinGen ExAC TOPMed gnomAD
RCV000782258 CA1642444 rs773807534	287	V>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346800852 rs1278011609	288	D>E		No	ClinGen TOPMed
rs768385373 CA1642443	288	D>V		No	ClinGen ExAC gnomAD
rs1302254296 CA346800848	289	L>Q		No	ClinGen gnomAD
CA346800845 rs1388536611	290	G>R		No	ClinGen gnomAD
rs988414365 CA47019866	291	S>F		No	ClinGen TOPMed gnomAD

No associated diseases with Q9NPC8

2 regional properties for Q9NPC8

Type	Name	Position	InterPro Accession
domain	Homeobox domain	126 - 190	IPR001356
domain	Homeobox protein SIX1, N-terminal SD domain	9 - 123	IPR031701

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.
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.
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.

6 GO annotations of molecular function

Name	Definition
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
protein-containing complex binding	Binding to a macromolecular complex.
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.

24 GO annotations of biological process

Name	Definition
anatomical structure morphogenesis	The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
anterior/posterior axis specification	The establishment, maintenance and elaboration of the anterior/posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
chondrocyte differentiation	The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage.
condensed mesenchymal cell proliferation	The multiplication or reproduction of cells, resulting in the expansion of a condensed mesenchymal cell population. A condensed mesenchymal cell population is a population of adherent mesenchymal cells.
embryonic cranial skeleton morphogenesis	The process in which the anatomical structures of the cranial skeleton are generated and organized during the embryonic phase.
embryonic digestive tract morphogenesis	The process in which the anatomical structures of the digestive tract are generated and organized during embryonic development. The digestive tract is the anatomical structure through which food passes and is processed.
kidney development	The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.
mesenchymal cell differentiation involved in kidney development	The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of the kidney as it progresses from its formation to the mature state.
mesenchymal stem cell maintenance involved in nephron morphogenesis	The process in which an organism retains a population of mesenchymal stem cells that contributes to the shaping of a nephron. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.
mesenchymal stem cell proliferation	The multiplication or reproduction of mesenchymal stem cells, resulting in the expansion of a stem cell population. A mesenchymal stem cell, or MSC, is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.
mesenchymal to epithelial transition involved in metanephros morphogenesis	A transition where a mesenchymal cell establishes apical/basolateral polarity,forms intercellular adhesive junctions, synthesizes basement membrane components and becomes an epithelial cell that will contribute to the shaping of the metanephros.
mesodermal cell fate specification	The cell fate determination process in which a cell becomes capable of differentiating autonomously into a mesoderm cell in an environment that is neutral with respect to the developmental pathway; upon specification, the cell fate can be reversed.
middle ear morphogenesis	The process in which the anatomical structures of the middle ear are generated and organized. The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window).
negative regulation of epithelial cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation.
nephron development	The process whose specific outcome is the progression of the nephron over time, from its formation to the mature structure. A nephron is the functional unit of the kidney.
nephron morphogenesis	The process in which the anatomical structures of the nephron are generated and organized. A nephron is the functional unit of the kidney.
positive regulation of chondrocyte proliferation	Any process that increases the frequency, rate or extent of the multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population. A chondrocyte is a polymorphic cell that forms cartilage.
protein import into nucleus	The directed movement of a protein from the cytoplasm to the nucleus.
regulation of branching involved in ureteric bud morphogenesis	Any process that modulates the rate, frequency or extent of branching involved in ureteric bud morphogenesis, the process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules.
regulation of chondrocyte differentiation	Any process that modulates the frequency, rate or extent of chondrocyte differentiation.
regulation of ossification	Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O93307	SIX6	Homeobox protein SIX6	Gallus gallus (Chicken)	PR
Q95RW8	Optix	Protein Optix	Drosophila melanogaster (Fruit fly)	PR
O95343	SIX3	Homeobox protein SIX3	Homo sapiens (Human)	PR
O95475	SIX6	Homeobox protein SIX6	Homo sapiens (Human)	PR
Q15475	SIX1	Homeobox protein SIX1	Homo sapiens (Human)	PR
Q9QZ28	Six6	Homeobox protein SIX6	Mus musculus (Mouse)	PR
Q62231	Six1	Homeobox protein SIX1	Mus musculus (Mouse)	PR
Q62233	Six3	Homeobox protein SIX3	Mus musculus (Mouse)	PR
Q62232	Six2	Homeobox protein SIX2	Mus musculus (Mouse)	PR
Q94165	ceh-34	Homeobox protein ceh-34	Caenorhabditis elegans	PR
Q6DHF9	six1a	Homeobox protein six1a	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q6NZ04	six1b	Homeobox protein six1b	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MSMLPTFGFT	QEQVACVCEV	LQQGGNIERL	GRFLWSLPAC	EHLHKNESVL	KAKAVVAFHR
70	80	90	100	110	120
GNFRELYKIL	ESHQFSPHNH	AKLQQLWLKA	HYIEAEKLRG	RPLGAVGKYR	VRRKFPLPRS
130	140	150	160	170	180
IWDGEETSYC	FKEKSRSVLR	EWYAHNPYPS	PREKRELAEA	TGLTTTQVSN	WFKNRRQRDR
190	200	210	220	230	240
AAEAKERENN	ENSNSNSHNP	LNGSGKSVLG	SSEDEKTPSG	TPDHSSSSPA	LLLSPPPPGL
250	260	270	280	290
PSLHSLGHPP	GPSAVPVPVP	GGGGADPLQH	HHGLQDSILN	PMSANLVDLG	S