AiPD: Autoinhibited Protein Database

O95475

Gene name	SIX6 (OPTX2, SIX9)
Protein name	Homeobox protein SIX6
Names	Homeodomain protein OPTX2, Optic homeobox 2, Sine oculis homeobox homolog 6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4990
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

66-246 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

66-246 (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 O95475

Entry ID	Method	Resolution	Chain	Position	Source
AF-O95475-F1	Predicted				AlphaFoldDB

212 variants for O95475

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000169774 CA215052 rs786204851	37	L>P	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001113381 RCV000765177 rs146737847 CA7212586 RCV000514964	129	E>K	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Anophthalmia-microphthalmia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs367714528 RCV002558131 RCV001113382 CA7212587	130	Q>R	Anophthalmia-microphthalmia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000270432 RCV001675733 CA7212590 rs33912345 RCV000253819 RCV000989235 VAR_031631	141	H>N	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Anophthalmia-microphthalmia syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_026241 RCV000004686 CA214925 rs104894480	165	T>A	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome found in a patient with bilateral asymmetric microphthalmia, cataract and nystagmus; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000169773 RCV000414384 rs786205142	178	N>missing	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [ClinVar]	Yes	ClinVar dbSNP
CA7212606 RCV001090165 rs748077751	183	D>E	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV000845583 rs1594631582 CA390087569	183	D>H	Developmental cataract [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10640357 rs886050563 RCV000271757	203	R>W	Variant assessed as Somatic; impact. Anophthalmia-microphthalmia syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
RCV000877992 RCV000625468 RCV001700427 CA7212639 rs45549246 RCV001113383	205	L>R	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Anophthalmia-microphthalmia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001856509 CA7212649 rs202029915 RCV001114763	212	T>M	Anophthalmia-microphthalmia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000973840 CA7212652 rs201560655 RCV001114764	213	P>S	Anophthalmia-microphthalmia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs746623345 RCV001114766 CA7212670	242	S>I	Anophthalmia-microphthalmia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs372811052 CA7212535	4	L>M		No	ClinGen ESP ExAC gnomAD
CA7212536 rs780214504	4	L>P		No	ClinGen ExAC TOPMed gnomAD
CA7212538 rs199904203	6	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773503265 CA7212542	10	S>N		No	ClinGen ExAC TOPMed gnomAD
CA390086062 rs557328634	12	Q>H		No	ClinGen 1000Genomes gnomAD
rs763048653 CA7212543	13	Q>E		No	ClinGen ExAC gnomAD
CA390086074 rs1454503110	14	V>A		No	ClinGen TOPMed gnomAD
rs770767453 CA7212544	15	A>S		No	ClinGen ExAC gnomAD
rs773962822 CA7212546	16	G>E		No	ClinGen ExAC gnomAD
CA390086081 rs1240398966	16	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	16	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390086087 rs1594631175	17	V>G		No	ClinGen Ensembl
rs759531626 CA262195801	17	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7212547 rs759531626	17	V>L		No	ClinGen ExAC TOPMed gnomAD
CA390086096 rs1265827837	18	C>*		No	ClinGen gnomAD
CA7212549 rs577043418	22	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7212550 rs760159037	23	E>D		No	ClinGen ExAC TOPMed gnomAD
CA390086132 rs1168027662	24	S>G		No	ClinGen gnomAD
CA7212552 rs753530432	26	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA390086158 rs1395116194	28	E>K		No	ClinGen TOPMed
CA390086180 rs1292748120	31	G>D		No	ClinGen gnomAD
CA390086178 rs1296136036	31	G>R		No	ClinGen TOPMed
CA390086186 rs1365376164	32	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	33	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302062809 CA390086214	36	S>P		No	ClinGen gnomAD
rs1325988447 CA390086217	36	S>W		No	ClinGen gnomAD
rs1260162136 CA390086227	38	P>L		No	ClinGen gnomAD
CA390086224 rs1374049884	38	P>S		No	ClinGen TOPMed
CA390086228 rs1213434250	39	V>M		No	ClinGen gnomAD
rs751963683 CA7212555	41	P>R		No	ClinGen ExAC gnomAD
CA262195802 rs1032753134	41	P>S		No	ClinGen TOPMed gnomAD
rs1477173742 CA390086247	42	A>E		No	ClinGen gnomAD
rs1477173742 CA390086249	42	A>V		No	ClinGen gnomAD
CA262195803 rs988434661	45	E>D		No	ClinGen TOPMed gnomAD
CA7212557 rs573299460	45	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA390086272 rs1477969359	46	A>D		No	ClinGen TOPMed gnomAD
rs748615163 CA7212558	46	A>T		No	ClinGen ExAC gnomAD
CA390086274 rs1477969359	46	A>V		No	ClinGen TOPMed gnomAD
rs1371320967 CA390086279	47	L>P		No	ClinGen gnomAD
rs1248467011 CA390086287	48	N>K		No	ClinGen TOPMed
rs146507408 CA7212560	48	N>S		No	ClinGen ESP ExAC gnomAD
rs749539161 CA7212561	51	E>D		No	ClinGen ExAC gnomAD
CA390086313 rs1594631252	52	S>A		No	ClinGen Ensembl
rs771046683 CA7212562	52	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	53	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200859196 CA262195804	54	L>V		No	ClinGen TOPMed gnomAD
CA390086328 rs1280231718	55	R>C		No	ClinGen gnomAD
rs1232976575 CA390086332	56	A>T		No	ClinGen gnomAD
CA390086341 rs1323822988	57	R>L		No	ClinGen gnomAD
CA390086343 rs1222783875	58	A>T		No	ClinGen gnomAD
CA7212566 rs775430989	59	I>M		No	ClinGen ExAC TOPMed gnomAD
CA390086356 rs1213792967	60	V>L		No	ClinGen gnomAD
CA7212569 rs775987768	64	G>S		No	ClinGen ExAC gnomAD
rs1180981020 CA390086388	65	G>S		No	ClinGen TOPMed gnomAD
CA262195805 rs1041005718	66	N>D		No	ClinGen Ensembl
CA7212570 rs761590129	68	R>P		No	ClinGen ExAC TOPMed gnomAD
CA390086409 rs1411196233 COSM216327	68	R>S	lung Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs764765669 CA390086420 CA7212571	69	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1165256829 CA390086414	69	E>K		No	ClinGen gnomAD
rs1408726290 CA390086427	71	Y>H		No	ClinGen TOPMed
rs201846510 CA262195807	72	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1211910049 CA390086446	73	I>T		No	ClinGen gnomAD
rs1594631325 CA390086443	73	I>V		No	ClinGen Ensembl
CA390086459 rs1470067846	75	E>A		No	ClinGen TOPMed
TCGA novel	76	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447414831 CA390086491	78	K>N		No	ClinGen gnomAD
CA7212573 rs755414940	80	T>N		No	ClinGen ExAC gnomAD
CA390086523 rs1362510658	81	K>R		No	ClinGen TOPMed
rs1242791026 CA390086570	84	H>Q		No	ClinGen TOPMed
CA390086578 rs1229203102	85	A>D		No	ClinGen gnomAD
CA390086572 rs1376068996 COSM1225809	85	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA390086607 rs1309047087	88	Q>*		No	ClinGen gnomAD
CA390086614 rs1459844362	89	A>T		No	ClinGen TOPMed
CA7212575 rs753263476	89	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1243036174 CA390086629	91	W>R		No	ClinGen gnomAD
rs78954112 CA262195808	93	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488297932 CA390086659	93	E>A		No	ClinGen gnomAD
rs78954112 CA7212576	93	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7212577 rs777967121	94	A>P		No	ClinGen ExAC gnomAD
rs749323881 CA7212578	95	H>R		No	ClinGen ExAC gnomAD
CA7212580 rs779088115	103	R>C		No	ClinGen ExAC gnomAD
CA390086787 rs1237413105 COSM1225808	103	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA390086854 rs1594631394	110	V>L		No	ClinGen Ensembl
rs1380851786 CA390086866	111	D>N		No	ClinGen gnomAD
rs746044192 CA7212581	116	R>K		No	ClinGen ExAC TOPMed gnomAD
CA7212583 rs775205400	117	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1177655070 CA390086939	119	F>L		No	ClinGen gnomAD
CA390086961 rs1375218895	122	P>L		No	ClinGen gnomAD
TCGA novel	123	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA262195810 rs996715610	124	T>S		No	ClinGen Ensembl
rs556168853 CA262195811	127	D>G		No	ClinGen TOPMed
CA390086996 rs1344962002	128	G>C		No	ClinGen gnomAD
rs1344962002 CA390086997	128	G>R		No	ClinGen gnomAD
CA390086998 rs1344962002	128	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA390087010 rs1383480571	130	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1203971178 CA390087024	131	K>R		No	ClinGen gnomAD
CA262195812 rs1047689079	132	T>A		No	ClinGen TOPMed gnomAD
CA390087034 rs1047689079	132	T>S		No	ClinGen TOPMed gnomAD
CA7212588 rs764754489	133	H>D		No	ClinGen ExAC gnomAD
CA262195813 rs112601907	138	R>H		No	ClinGen TOPMed
CA390087129 rs1238665108	139	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1594631470 CA390087142	140	R>L		No	ClinGen Ensembl
rs33912345 CA262195814	141	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390087178 rs1166499175	144	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA390087179 rs1446659494	144	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7212592 rs753099890	145	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA390087186 rs753099890	145	E>Q		No	ClinGen ExAC gnomAD
CA390087199 rs1398379921	146	W>G		No	ClinGen gnomAD
CA7212594 rs764482008	146	W>L		No	ClinGen ExAC gnomAD
CA390087223 rs1446171341	147	Y>F		No	ClinGen TOPMed
CA390087229 rs1331010443	148	L>V		No	ClinGen gnomAD
rs868338623 CA262195815	155	P>S		No	ClinGen Ensembl
rs1272560627 CA390087322	156	S>C		No	ClinGen TOPMed gnomAD
CA390087327 rs1243388385	156	S>R		No	ClinGen TOPMed
CA390087330 rs1369024871	157	K>E		No	ClinGen gnomAD
rs778926562 CA7212597	158	K>N		No	ClinGen ExAC gnomAD
CA7212596 rs749617848	158	K>T		No	ClinGen ExAC gnomAD
CA390087360 rs1315708072	159	R>H		No	ClinGen gnomAD
CA390087395 rs1200284928	162	A>V		No	ClinGen TOPMed gnomAD
rs750655249 CA7212599	164	A>T		No	ClinGen ExAC TOPMed gnomAD
rs779887646 CA7212601 CA390087429	166	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA262195816 rs905808214	168	T>A		No	ClinGen TOPMed
rs746746157 CA7212602	169	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1478357698 CA390087466	170	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA262195817 rs57656073	171	Q>R		No	ClinGen Ensembl
rs1193079699 CA390087478	172	V>L		No	ClinGen gnomAD
CA390087491 rs1421692802	173	G>A		No	ClinGen TOPMed gnomAD
CA390087488 rs1421692802	173	G>V		No	ClinGen TOPMed gnomAD
rs768687648 CA7212603	176	F>L		No	ClinGen ExAC
CA7212604 rs78978726	178	N>T		No	ClinGen ExAC
rs1171826962 CA390087545	179	R>H		No	ClinGen gnomAD
rs769430744 CA7212607	184	R>G		No	ClinGen ExAC TOPMed gnomAD
CA390087576 rs772792063	184	R>P		No	ClinGen ExAC TOPMed
CA7212608 rs772792063	184	R>Q		No	ClinGen ExAC TOPMed
CA390087582 rs1326036486	185	A>E		No	ClinGen TOPMed gnomAD
CA7212609 rs370851549	185	A>T		No	ClinGen ESP ExAC gnomAD
rs1351011016 CA390087588	186	A>V		No	ClinGen gnomAD
CA390087596 rs1277078601	188	A>P		No	ClinGen gnomAD
rs1337925767 CA390087601	189	K>Q		No	ClinGen gnomAD
rs1355421682 CA390087618	191	R>*		No	ClinGen gnomAD
rs745496406 CA7212631	193	Q>H		No	ClinGen ExAC gnomAD
rs768908961 CA7212632	194	Q>K		No	ClinGen ExAC gnomAD
rs1335932984 CA390087672	197	L>Q		No	ClinGen gnomAD
rs762371105 CA7212634	198	S>T		No	ClinGen ExAC gnomAD
rs1445777026 CA390087681	199	Q>E		No	ClinGen gnomAD
rs1444831808 CA390087704	202	G>A		No	ClinGen TOPMed
CA390087703 rs1444831808	202	G>E		No	ClinGen TOPMed
rs1239830717 CA390087700	202	G>R		No	ClinGen gnomAD
CA390087706 rs886050563	203	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7212637 rs201991012	203	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs766404727 CA7212638	204	A>T		No	ClinGen ExAC gnomAD
rs1358529052 CA390087715	205	L>V		No	ClinGen TOPMed
CA7212641 rs148118869	206	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7212642 rs752534682	206	R>Q		No	ClinGen ExAC gnomAD
COSM1225807 rs148118869 CA390087718	206	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7212644 rs540804738	207	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA390087728 rs1239541440	208	E>A		No	ClinGen TOPMed
CA7212646 rs146372482	208	E>K		No	ClinGen ESP ExAC gnomAD
rs897409621 CA262195958	209	G>S		No	ClinGen Ensembl
CA390087748 rs1178060835	211	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7212648 rs745524344	211	G>R		No	ClinGen ExAC gnomAD
rs745524344 CA390087746	211	G>S		No	ClinGen ExAC gnomAD
rs202029915 CA7212650	212	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	214	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7212653 rs773738794	214	E>K		No	ClinGen ExAC gnomAD
CA7212654 rs763383468	215	V>M		No	ClinGen ExAC gnomAD
rs1300656876 CA390087776	216	L>Q		No	ClinGen gnomAD
rs759745079 CA7212657	218	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1411963750 CA390087790	219	A>S		No	ClinGen gnomAD
rs767750775 CA7212659	219	A>V		No	ClinGen ExAC gnomAD
rs999129819 CA262195961	220	T>I		No	ClinGen TOPMed gnomAD
rs530622461 CA262195960	220	T>P		No	ClinGen 1000Genomes
CA390087810 rs752483519	222	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752483519 CA7212660	222	P>R		No	ClinGen ExAC TOPMed gnomAD
CA390087814 rs1310202054	223	A>D		No	ClinGen TOPMed
CA7212661 rs372216093	223	A>P		No	ClinGen ESP ExAC gnomAD
CA7212662 rs372216093	223	A>T		No	ClinGen ESP ExAC gnomAD
CA390087818 rs1265888751	224	A>P		No	ClinGen TOPMed gnomAD
rs1265888751 CA390087817	224	A>T		No	ClinGen TOPMed gnomAD
rs200339406 CA7212663	224	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390087827 rs1566691625	225	S>T		No	ClinGen Ensembl
rs757206532 CA390087844	228	S>N		No	ClinGen ExAC gnomAD
CA7212664 rs757206532	228	S>T		No	ClinGen ExAC gnomAD
CA390087859 rs1450117500	230	A>E		No	ClinGen TOPMed
rs1450117500 CA390087860	230	A>V		No	ClinGen TOPMed
CA262195962 rs958745864	231	A>T		No	ClinGen TOPMed gnomAD
CA7212666 rs778350770	232	T>I		No	ClinGen ExAC gnomAD
CA7212667 rs745349858	233	S>*		No	ClinGen ExAC gnomAD
CA262195963 rs1011681192	236	S>P		No	ClinGen TOPMed
rs1462321963 CA390087901	237	I>M		No	ClinGen gnomAD
CA390087900 rs1381798176	237	I>T		No	ClinGen TOPMed
CA390087935 rs770148963	242	S>R		No	ClinGen ExAC TOPMed gnomAD
rs778051865 CA7212672	243	E>D		No	ClinGen ExAC gnomAD
CA390087945 rs1184169244	244	C>R		No	ClinGen TOPMed
CA262195964 rs763918148	244	C>Y		No	ClinGen Ensembl
CA390087951 rs1217105745	245	D>N		No	ClinGen gnomAD
CA7212673 rs114981075 RCV000945851	246	I>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs114981075 CA390087962	246	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7212674 rs771466473	247	I>C		No	ClinGen ExAC gnomAD

1 associated diseases with O95475

[MIM: 212550]: Optic disk anomalies with retinal and/or macular dystrophy (ODRMD)

An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia. {ECO:0000269|PubMed:23167593}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia. {ECO:0000269|PubMed:23167593}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for O95475

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.

3 GO annotations of molecular function

Name	Definition
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.
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.

4 GO annotations of biological process

Name	Definition
animal organ morphogenesis	Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
eye development	The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

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
Q15475	SIX1	Homeobox protein SIX1	Homo sapiens (Human)	PR
Q9NPC8	SIX2	Homeobox protein SIX2	Homo sapiens (Human)	PR
Q62231	Six1	Homeobox protein SIX1	Mus musculus (Mouse)	PR
Q62232	Six2	Homeobox protein SIX2	Mus musculus (Mouse)	PR
Q62233	Six3	Homeobox protein SIX3	Mus musculus (Mouse)	PR
Q9QZ28	Six6	Homeobox protein SIX6	Mus musculus (Mouse)	PR
Q94165	ceh-34	Homeobox protein ceh-34	Caenorhabditis elegans	PR
Q6NZ04	six1b	Homeobox protein six1b	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q6DHF9	six1a	Homeobox protein six1a	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MFQLPILNFS	PQQVAGVCET	LEESGDVERL	GRFLWSLPVA	PAACEALNKN	ESVLRARAIV
70	80	90	100	110	120
AFHGGNYREL	YHILENHKFT	KESHAKLQAL	WLEAHYQEAE	KLRGRPLGPV	DKYRVRKKFP
130	140	150	160	170	180
LPRTIWDGEQ	KTHCFKERTR	HLLREWYLQD	PYPNPSKKRE	LAQATGLTPT	QVGNWFKNRR
190	200	210	220	230	240
QRDRAAAAKN	RLQQQVLSQG	SGRALRAEGD	GTPEVLGVAT	SPAASLSSKA	ATSAISITSS

DSECDI