AiPD: Autoinhibited Protein Database

P50458

Gene name	LHX2 (LH2)
Protein name	LIM/homeobox protein Lhx2
Names	Homeobox protein LH-2, LIM homeobox protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9355
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

4-76 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

4-76 (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 P50458

Entry ID	Method	Resolution	Chain	Position	Source
AF-P50458-F1	Predicted				AlphaFoldDB

267 variants for P50458

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA374860669 rs1179688706	7	S>L		No	ClinGen gnomAD
CA374860715 rs1425252450	13	G>E		No	ClinGen gnomAD
rs968124826 CA199653136	16	D>Y		No	ClinGen Ensembl
rs755380207 CA5233756	17	E>K		No	ClinGen ExAC gnomAD
rs1262723657 CA374860752	18	M>I		No	ClinGen TOPMed
CA5233757 rs767900210	18	M>T		No	ClinGen ExAC TOPMed gnomAD
CA374860756 rs1447163494	19	D>G		No	ClinGen gnomAD
rs752934468 CA5233758	19	D>N		No	ClinGen ExAC gnomAD
TCGA novel	20	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374860763 rs1324987801	20	R>H		No	ClinGen gnomAD
CA374860765 rs1324987801	20	R>L		No	ClinGen gnomAD
CA374860766 rs1407632691	21	R>G		No	ClinGen gnomAD
CA5233759 rs756249258	22	A>T		No	ClinGen ExAC gnomAD
CA374860803 rs777932165	26	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5233760 rs777932165	26	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1042853209 CA199653149	26	A>V		No	ClinGen TOPMed gnomAD
CA374860807 rs1218118920	27	P>A		No	ClinGen gnomAD
rs1211321482 CA374860819	29	I>V		No	ClinGen TOPMed
CA374860838 rs1486620338	31	S>F		No	ClinGen TOPMed
rs1256675627 CA374860839	32	A>S		No	ClinGen TOPMed gnomAD
CA374860853 rs1320625646	34	D>H		No	ClinGen gnomAD
CA374860860 rs1267088691	35	R>S		No	ClinGen gnomAD
CA374860866 rs1200510281	36	G>S		No	ClinGen TOPMed gnomAD
CA374860874 rs1588343930	37	D>A		No	ClinGen Ensembl
rs368708873 CA374860872	37	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368708873 CA5233761	37	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233762 rs757223404	38	T>A		No	ClinGen ExAC gnomAD
CA374860884 rs1360827094	39	E>K		No	ClinGen TOPMed
rs1298032374 CA374860896	40	T>M		No	ClinGen TOPMed
rs758295305 CA5233782	41	T>A		No	ClinGen ExAC gnomAD
rs752440722 CA5233784	42	M>L		No	ClinGen ExAC gnomAD
rs752440722 CA5233783	42	M>V		No	ClinGen ExAC gnomAD
rs532587351 CA199653789	43	P>L		No	ClinGen ExAC gnomAD
rs532587351 CA5233785	43	P>R		No	ClinGen ExAC gnomAD
CA374860933 rs780690752	45	I>F		No	ClinGen ExAC TOPMed gnomAD
rs780690752 CA5233786	45	I>L		No	ClinGen ExAC TOPMed gnomAD
rs780690752 CA374860932	45	I>V		No	ClinGen ExAC TOPMed gnomAD
CA374860941 rs1287779088	46	S>N		No	ClinGen gnomAD
CA374860943 rs1287779088	46	S>T		No	ClinGen gnomAD
rs533198310 CA374860963	49	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5233789 rs533198310	49	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	49	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374860965 rs1564548216	49	R>P		No	ClinGen Ensembl
rs533198310 CA5233788	49	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113895098 CA199653804	50	A>T		No	ClinGen TOPMed gnomAD
rs1188230279 CA374860972	51	A>T		No	ClinGen gnomAD
CA374860993 rs1422020678	54	A>S		No	ClinGen TOPMed
CA374860999 rs1362713822	55	G>S		No	ClinGen gnomAD
CA374861012 rs1370844767	57	G>R		No	ClinGen gnomAD
CA374861011 rs1370844767	57	G>W		No	ClinGen gnomAD
TCGA novel	58	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1158464183 CA374861017	58	G>S		No	ClinGen TOPMed
rs370570070 CA5233795	59	K>R		No	ClinGen ESP ExAC gnomAD
rs1415274703 CA374861040	61	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1427452128 CA374861061	64	Y>C		No	ClinGen TOPMed
TCGA novel	69	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374861099 rs1588344843	70	D>G		No	ClinGen Ensembl
CA374861122 rs1376601922	73	W>*		No	ClinGen gnomAD
rs867375573 CA199653837	76	R>C		No	ClinGen Ensembl
rs1353984800 CA374861167	79	K>R		No	ClinGen gnomAD
CA374861189 rs1231821859	82	E>Q		No	ClinGen gnomAD
CA374861202 rs1253724724	83	C>*		No	ClinGen gnomAD
CA374861285 rs1210127636	95	S>T		No	ClinGen TOPMed
rs913850378 CA199653866	100	I>S		No	ClinGen TOPMed
CA374861362 rs1419909165	104	E>G		No	ClinGen gnomAD
rs1564548291 CA374861394	107	Y>N		No	ClinGen Ensembl
rs901719061 CA199654296	109	R>C		No	ClinGen Ensembl
rs1476903416 CA374861901	109	R>L		No	ClinGen gnomAD
CA5233837 rs766398944	116	A>G		No	ClinGen ExAC gnomAD
CA374861981 rs1469059585	117	R>G		No	ClinGen TOPMed
CA374862176 rs1297242646	130	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs943713949 CA374862185	131	A>P		No	ClinGen TOPMed gnomAD
CA199654321 rs943713949	131	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	131	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA199654326 rs538436147	131	A>V		No	ClinGen Ensembl
rs755961022 CA5233842 COSM3699265	132	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	132	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763890377 CA5233843	134	L>F		No	ClinGen ExAC TOPMed gnomAD
rs753512234 CA5233844	139	N>H		No	ClinGen ExAC gnomAD
rs756897654 CA5233845	139	N>S		No	ClinGen ExAC TOPMed gnomAD
CA199654348 rs549494441	142	T>M		No	ClinGen 1000Genomes gnomAD
TCGA novel CA5233849 rs781712063	148	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
rs1207316439 CA374862385	149	M>L		No	ClinGen TOPMed
CA5233850 rs748558803	149	M>T		No	ClinGen ExAC gnomAD
CA374862419 rs1588345478	151	T>I		No	ClinGen Ensembl
CA374862504 rs1228926589	157	G>C		No	ClinGen TOPMed
CA374862506 rs1180683785	157	G>D		No	ClinGen gnomAD
rs1228926589 CA374862492	157	G>S		No	ClinGen TOPMed
CA5233852 rs773524246	159	K>E		No	ClinGen ExAC gnomAD
CA5233853 rs749532336	161	S>N		No	ClinGen ExAC gnomAD
CA374862627 rs1420916571	166	R>C		No	ClinGen gnomAD
rs1318426104 CA374862631	166	R>H		No	ClinGen gnomAD
rs375687666 CA5233856	169	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368805518 CA5233858	174	Q>L		No	ClinGen ESP ExAC gnomAD
rs1292248579 CA374862773	179	A>S		No	ClinGen gnomAD
rs764015032 CA5233860	180	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753641074 CA5233861	182	N>K		No	ClinGen ExAC gnomAD
CA5233862 rs761390346	184	A>D		No	ClinGen ExAC TOPMed gnomAD
rs757898602 CA5233866	185	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5233864 rs567713261	185	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA5233867 rs753230621	186	V>L		No	ClinGen ExAC gnomAD
TCGA novel	187	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5233872 rs778123020	190	A>S		No	ClinGen ExAC gnomAD
rs771124607 CA5233874	191	A>S		No	ClinGen ExAC gnomAD
CA5233875 rs779183982	191	A>V		No	ClinGen ExAC gnomAD
CA5233876 rs745984084	192	A>E		No	ClinGen ExAC TOPMed gnomAD
CA374862932 rs1178079328	193	A>V		No	ClinGen TOPMed gnomAD
rs775673483 CA5233879	194	A>T		No	ClinGen ExAC gnomAD
rs1378909150 CA374862947	195	A>T		No	ClinGen TOPMed gnomAD
rs961352521 CA199654443	195	A>V		No	ClinGen gnomAD
rs1372315817 CA374862959	196	A>T		No	ClinGen TOPMed
rs866465572 CA199654450	198	S>R		No	ClinGen Ensembl
rs776576461 CA5233882	199	A>S		No	ClinGen ExAC gnomAD
rs1162316630 CA374863015	201	L>M		No	ClinGen TOPMed
CA5233886 rs762469815	202	G>S		No	ClinGen ExAC gnomAD
rs765895014 CA5233887	203	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756617799 CA5233889	206	A>S		No	ClinGen ExAC gnomAD
CA374863070 rs1465025643	207	N>D		No	ClinGen gnomAD
rs754213670 CA5233891	208	P>L		No	ClinGen ExAC gnomAD
rs1402161306 CA374863084	208	P>S		No	ClinGen gnomAD
rs1200849534 CA374863105	210	G>D		No	ClinGen TOPMed
CA5233893 rs779045579	210	G>S		No	ClinGen ExAC gnomAD
rs1285259902 CA374863129	212	P>L		No	ClinGen TOPMed gnomAD
CA374863137 rs1346306936	213	Y>C		No	ClinGen gnomAD
rs1218534126 CA374863149	214	Y>C		No	ClinGen gnomAD
rs1256772758 CA374863156	215	N>H		No	ClinGen gnomAD
CA374863163 rs1341845501	215	N>S		No	ClinGen gnomAD
CA5233895 rs189601606	217	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1158234741 CA374863198	218	G>D		No	ClinGen gnomAD
rs1221785548 CA374863211	220	V>M		No	ClinGen TOPMed
CA374863275 rs1268970668	225	P>L		No	ClinGen gnomAD
rs1054695991 CA199654503	226	R>K		No	ClinGen Ensembl
rs1191389072 CA374863291	227	K>R		No	ClinGen gnomAD
CA374863300 rs1374754197	228	R>C		No	ClinGen gnomAD
rs1475581575 CA374863303	228	R>P		No	ClinGen gnomAD
CA374863297 rs1374754197	228	R>S		No	ClinGen gnomAD
rs747022702 CA5233897	229	K>T		No	ClinGen ExAC TOPMed gnomAD
rs768784762 CA5233898	230	S>I		No	ClinGen ExAC gnomAD
rs776604677 CA5233899	231	P>L		No	ClinGen ExAC TOPMed gnomAD
CA199654518 rs571577241	231	P>S		No	ClinGen 1000Genomes
TCGA novel	232	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374863350 rs1366254572	233	P>A		No	ClinGen gnomAD
rs754466751 CA199654526	234	G>C		No	ClinGen TOPMed gnomAD
CA374863369 rs1328709712	235	A>V		No	ClinGen gnomAD
rs772832117 CA5233902	236	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs901604624 CA199654534	238	A>S		No	ClinGen gnomAD
rs901604624 CA374863391	238	A>T		No	ClinGen gnomAD
rs995859788 CA199654538	238	A>V		No	ClinGen TOPMed gnomAD
CA374863407 rs1177515868	239	A>G		No	ClinGen TOPMed
CA374863403 rs1363594530	239	A>S		No	ClinGen TOPMed
rs1481720994 CA374863418	240	Y>C		No	ClinGen TOPMed
rs1050701333 CA199654541	241	N>K		No	ClinGen TOPMed
CA374863431 rs1292114193	241	N>S		No	ClinGen TOPMed gnomAD
rs762679057 CA5233903	242	A>T		No	ClinGen ExAC TOPMed gnomAD
rs887606540 CA199654548	242	A>V		No	ClinGen Ensembl
rs560527359 CA5233930	243	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374864347 rs560527359	243	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1588348683 CA374864363	245	S>R		No	ClinGen Ensembl
rs751859167 CA5233933	246	C>S		No	ClinGen ExAC gnomAD
CA374864372 rs1316266589	247	N>H		No	ClinGen Ensembl
CA374864379 rs755198475	247	N>K		No	ClinGen ExAC gnomAD
TCGA novel	248	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs879062209 CA199657918	248	E>G		No	ClinGen Ensembl
rs1303464139 CA374864380	248	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374864393 rs1456308379 CA374864394	249	N>K		No	ClinGen gnomAD
TCGA novel	250	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374864395 rs1306991006	250	D>N		No	ClinGen TOPMed
CA199657923 rs973270362	251	A>S		No	ClinGen TOPMed gnomAD
CA374864405 rs973270362	251	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	252	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781342669 CA5233935	252	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs748107648 CA5233936	253	H>L		No	ClinGen ExAC TOPMed gnomAD
rs1471239345 CA374864440	254	L>V		No	ClinGen gnomAD
rs1177834475 CA374864450	255	D>N		No	ClinGen gnomAD
rs777556738 CA5233938	256	R>C		No	ClinGen ExAC TOPMed gnomAD
rs777556738 CA199657937	256	R>G		No	ClinGen ExAC TOPMed gnomAD
rs749130254 CA199657952 COSM1459940	256	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749130254 CA5233939	256	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5233941 rs770682530	257	D>A		No	ClinGen ExAC gnomAD
rs979762975 CA199657970	258	Q>K		No	ClinGen Ensembl
CA5233942 rs140229756	259	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771568317 CA5233944	261	P>L		No	ClinGen ExAC TOPMed gnomAD
rs771568317 CA374864522	261	P>R		No	ClinGen ExAC TOPMed gnomAD
rs760101514 CA5233946	266	T>I		No	ClinGen ExAC gnomAD
CA5233949 rs763510121	269	M>I		No	ClinGen ExAC gnomAD
CA5233951 rs751912499	286	A>T		No	ClinGen ExAC gnomAD
rs1274615285 CA374865310	288	N>D		No	ClinGen gnomAD
CA199658014 rs767627020	292	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	297	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374865444 rs1355543482	298	Q>H		No	ClinGen gnomAD
CA5233954 rs752878477	300	A>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	301	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374865509 rs1405055112	304	G>D		No	ClinGen gnomAD
rs779800895 CA5233981	317	A>T		No	ClinGen ExAC gnomAD
rs747654439 CA5233985	321	F>L		No	ClinGen ExAC gnomAD
rs1449784215 CA374866161	323	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA374866164 rs1338436392	323	R>L		No	ClinGen gnomAD
CA374866188 rs1453619025	327	R>Q		No	ClinGen gnomAD
CA5233986 rs771622276	329	E>G		No	ClinGen ExAC gnomAD
rs774975929 CA5233987	330	N>K		No	ClinGen ExAC gnomAD
rs1371216473 CA374866209	330	N>T		No	ClinGen gnomAD
CA5233989 rs772345058	332	G>A		No	ClinGen ExAC gnomAD
rs1462081942 CA374866226	333	V>E		No	ClinGen gnomAD
rs151109428 CA5233990	333	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA374866236 rs1564553864	334	D>E		No	ClinGen Ensembl
rs764241410 CA5233992	336	S>L		No	ClinGen ExAC gnomAD
TCGA novel	336	S>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762693228 CA374866267	339	A>E		No	ClinGen ExAC gnomAD
rs1177285065 CA374866264	339	A>T		No	ClinGen gnomAD
rs762693228 CA5233994	339	A>V		No	ClinGen ExAC gnomAD
CA374866269 rs1195957735 COSM752738	340	A>T	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1178554096 CA374866274	340	A>V		No	ClinGen TOPMed gnomAD
CA374866282 rs1564553894	342	Q>*		No	ClinGen Ensembl
rs1328391312 CA374866286	342	Q>H		No	ClinGen gnomAD
rs1325983747 CA374866298	344	G>E		No	ClinGen TOPMed
rs1444394983 CA374866303	345	T>M		No	ClinGen gnomAD
rs751314499 CA5233999	346	P>S		No	ClinGen ExAC gnomAD
CA5234000 rs751314499	346	P>T		No	ClinGen ExAC gnomAD
CA199663328 rs369099431	347	S>L		No	ClinGen ESP TOPMed gnomAD
rs780990221 COSM752737 CA5234001	348	G>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA374866321 rs1166683585	349	P>A		No	ClinGen TOPMed
rs1324665644 CA374866323	349	P>L		No	ClinGen TOPMed gnomAD
rs1324665644 CA374866325	349	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	350	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374866345 rs1267522986	352	E>D		No	ClinGen gnomAD
rs777369931 CA5234006	353	L>F		No	ClinGen ExAC gnomAD
CA5234007 rs746392772	355	N>D		No	ClinGen ExAC gnomAD
CA374866363 rs1429949286	355	N>K		No	ClinGen TOPMed gnomAD
rs893877314 CA199663365	355	N>S		No	ClinGen Ensembl
CA5234008 rs772563433	356	A>T		No	ClinGen ExAC gnomAD
CA5234009 COSM384154 rs775730128	357	S>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA374866400 rs1203399461	359	S>R		No	ClinGen TOPMed
CA374866492 rs1329850991	365	T>A		No	ClinGen gnomAD
CA5234012 rs776799769	365	T>I		No	ClinGen ExAC gnomAD
CA374866507 rs1403212401	366	T>I		No	ClinGen gnomAD
CA374866518 rs1305418533	367	L>R		No	ClinGen gnomAD
rs761926920 CA5234013	368	T>K		No	ClinGen ExAC gnomAD
rs765319512 CA5234014	369	D>G		No	ClinGen ExAC gnomAD
rs551135959 CA5234015	371	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762815287 CA5234016	371	T>I		No	ClinGen ExAC gnomAD
rs762815287 CA374866568	371	T>N		No	ClinGen ExAC gnomAD
CA374866564 rs551135959	371	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1448778106 CA374866615	375	L>V		No	ClinGen gnomAD
CA374866639 rs1489617052	377	T>A		No	ClinGen TOPMed gnomAD
CA5234018 rs569272766	377	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1489617052 CA374866635	377	T>P		No	ClinGen TOPMed gnomAD
TCGA novel	378	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5234020 rs533321722	379	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA5234021 rs752421293	379	T>M		No	ClinGen ExAC gnomAD
rs533321722 CA5234019	379	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA374866684 rs1475631589	381	V>I		No	ClinGen gnomAD
rs1169421382 CA374866715	383	T>S		No	ClinGen gnomAD
rs1352151504 CA374866733	385	V>L		No	ClinGen TOPMed
CA374866758 rs1305979331	387	G>D		No	ClinGen TOPMed
CA5234023 rs777152260	387	G>R		No	ClinGen ExAC gnomAD
CA374866773 rs1165531483	388	N>K		No	ClinGen gnomAD
CA374866785 rs1366341343	389	L>R		No	ClinGen gnomAD
TCGA novel	394	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374866848 rs1316908197	394	P>T		No	ClinGen gnomAD
rs1455981403 CA374866890	397	P>T		No	ClinGen TOPMed
rs1588354517 CA374866913	398	S>L		No	ClinGen Ensembl
CA5234028 rs768983413	399	Q>R		No	ClinGen ExAC gnomAD
rs781483915 CA5234029	400	T>A		No	ClinGen ExAC gnomAD
CA199663472 rs998449551	400	T>M		No	ClinGen TOPMed
rs1203260098 CA374866944	401	T>A		No	ClinGen gnomAD
rs769950167 CA5234031	404	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	406	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with P50458

9 regional properties for P50458

Type	Name	Position	InterPro Accession
repeat	Leucine-rich repeat	86 - 152	IPR001611-1
repeat	Leucine-rich repeat	153 - 211	IPR001611-2
repeat	Leucine-rich repeat	222 - 280	IPR001611-3
repeat	Leucine-rich repeat, typical subtype	105 - 127	IPR003591-1
repeat	Leucine-rich repeat, typical subtype	128 - 151	IPR003591-2
repeat	Leucine-rich repeat, typical subtype	175 - 197	IPR003591-3
repeat	Leucine-rich repeat, typical subtype	198 - 220	IPR003591-4
repeat	Leucine-rich repeat, typical subtype	221 - 243	IPR003591-5
repeat	Leucine-rich repeat, typical subtype	244 - 267	IPR003591-6

Functions

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

2 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.

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 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, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
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.
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.

18 GO annotations of biological process

Name	Definition
axon extension	Long distance growth of a single axon process involved in cellular development.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cerebral cortex development	The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon.
dorsal/ventral pattern formation	The regionalization process in which the areas along the dorsal/ventral axis are established that will lead to differences in cell differentiation. The dorsal/ventral axis is defined by a line that runs orthogonal to both the anterior/posterior and left/right axes. The dorsal end is defined by the upper or back side of an organism. The ventral end is defined by the lower or front side of an organism.
hair follicle development	The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open.
maintenance of epithelial cell apical/basal polarity	The maintenance of the apicobasal polarity of an epithelial cell.
mesoderm development	The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue.
negative regulation of gene expression, epigenetic	An epigenetic process that silences gene expression at specific genomic regions through chromatin remodelling either by modifying higher order chromatin fiber structure, nucleosomal histones, or the DNA.
negative regulation of neurogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system.
negative regulation of transcription regulatory region DNA binding	Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding.
neural tube closure	The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
olfactory bulb development	The progression of the olfactory bulb over time from its initial formation until its mature state. The olfactory bulb coordinates neuronal signaling involved in the perception of smell. It receives input from the sensory neurons and outputs to the olfactory cortex.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of neural precursor cell proliferation	Any process that activates or increases the frequency, rate or extent of neural precursor cell proliferation.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
retina development in camera-type eye	The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.
telencephalon regionalization	The regionalization process that creates areas within the forebrain that will direct the behavior of cell migration in differentiation as the telencephalon develops.

21 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A0JNI8	LHX9	LIM/homeobox protein Lhx9	Bos taurus (Bovine)	PR
Q90881	LHX9	LIM/homeobox protein Lhx9	Gallus gallus (Chicken)	PR
F1NEA7	DMBX1	Diencephalon/mesencephalon homeobox protein 1	Gallus gallus (Chicken)	PR
Q90963	PRRX2	Paired mesoderm homeobox protein 2	Gallus gallus (Chicken)	PR
Q8IRC7	Awh	LIM/homeobox protein Awh	Drosophila melanogaster (Fruit fly)	PR
Q8NHV9	RHOXF1	Rhox homeobox family member 1	Homo sapiens (Human)	PR
O95076	ALX3	Homeobox protein aristaless-like 3	Homo sapiens (Human)	PR
Q9BQY4	RHOXF2	Rhox homeobox family member 2	Homo sapiens (Human)	PR
Q99811	PRRX2	Paired mesoderm homeobox protein 2	Homo sapiens (Human)	PR
O15266	SHOX	Short stature homeobox protein	Homo sapiens (Human)	PR
Q9NQ69	LHX9	LIM/homeobox protein Lhx9	Homo sapiens (Human)	PR
P63013	Prrx1	Paired mesoderm homeobox protein 1	Mus musculus (Mouse)	PR
Q8VIH1	Nobox	Homeobox protein NOBOX	Mus musculus (Mouse)	PR
Q06348	Prrx2	Paired mesoderm homeobox protein 2	Mus musculus (Mouse)	PR
O88933	Esx1	Extraembryonic, spermatogenesis, homeobox 1 (Homeobox protein SPX1) (Homeodomain protein EPX)	Mus musculus (Mouse)	EV
Q9WUH2	Lhx9	LIM/homeobox protein Lhx9	Mus musculus (Mouse)	PR
Q80W90	Lhx9	LIM/homeobox protein Lhx9	Rattus norvegicus (Rat)	PR
P36198	Lhx2	LIM/homeobox protein Lhx2	Rattus norvegicus (Rat)	PR
Q28G02	siamois	Homeobox protein siamois	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q566X8	dmbx1b	Diencephalon/mesencephalon homeobox protein 1-B	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q1LWV4	lhx9	LIM/homeobox protein Lhx9	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MLFHSLSGPE	VHGVIDEMDR	RAKSEAPAIS	SAIDRGDTET	TMPSISSDRA	ALCAGCGGKI
70	80	90	100	110	120
SDRYYLLAVD	KQWHMRCLKC	CECKLNLESE	LTCFSKDGSI	YCKEDYYRRF	SVQRCARCHL
130	140	150	160	170	180
GISASEMVMR	ARDLVYHLNC	FTCTTCNKML	TTGDHFGMKD	SLVYCRLHFE	ALLQGEYPAH
190	200	210	220	230	240
FNHADVAAAA	AAAAAAKSAG	LGAAGANPLG	LPYYNGVGTV	QKGRPRKRKS	PGPGADLAAY
250	260	270	280	290	300
NAALSCNEND	AEHLDRDQPY	PSSQKTKRMR	TSFKHHQLRT	MKSYFAINHN	PDAKDLKQLA
310	320	330	340	350	360
QKTGLTKRVL	QVWFQNARAK	FRRNLLRQEN	TGVDKSTDAA	LQTGTPSGPA	SELSNASLSP
370	380	390	400
SSTPTTLTDL	TSPTLPTVTS	VLTSVPGNLE	GHEPHSPSQT	TLTNLF