AiPD: Autoinhibited Protein Database

O15266

Gene name	SHOX (PHOG)
Protein name	Short stature homeobox protein
Names	Pseudoautosomal homeobox-containing osteogenic protein, Short stature homeobox-containing protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6473
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

8-152 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

8-152 (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 O15266

Entry ID	Method	Resolution	Chain	Position	Source
AF-O15266-F1	Predicted				AlphaFoldDB

317 variants for O15266

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1334507288 RCV001336882	13	D>G	Langer mesomelic dysplasia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001290977 rs2052635829	17	K>*	SHOX-related short stature [ClinVar]	Yes	ClinVar dbSNP
rs146304983 RCV000723587 RCV000078910 RCV000990466 CA220967	29	K>T	SHOX-related short stature [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA412231042 rs1556457962 RCV000590827	79	K>M	SHOX-related short stature [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA254922 rs137852558 RCV000010559	102	E>*	Leri-Weill dyschondrosteosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000030453 rs193922466 CA214246	116	K>R	SHOX-related short stature [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001267963 rs2052711401 RCV001262830	117	Q>*	SHOX-related short stature [ClinVar]	Yes	ClinVar dbSNP
rs1569493663 RCV000713275 RCV002509522	118	R>missing	Leri-Weill dyschondrosteosis [ClinVar]	Yes	ClinVar dbSNP
RCV000010558 rs1569493663	119	R>missing	Langer mesomelic dysplasia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2052712369 RCV001336881	130	N>T	Langer mesomelic dysplasia syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_019414 rs137852554 RCV000010551 CA254913	132	L>V	Leri-Weill dyschondrosteosis LWD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA254916 VAR_019415 rs137852555 RCV000010552	153	R>L	Leri-Weill dyschondrosteosis LWD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000786992 CA412231578 rs1159449478	160	R>H	SHOX-related short stature [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000010555 VAR_019416 CA212923 rs137852557 RCV000010556	168	R>W	Langer mesomelic dysplasia syndrome Leri-Weill dyschondrosteosis LMD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs397514462 CA259732 RCV000022889	170	A>D	Leri-Weill dyschondrosteosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000022888 RCV000022887 CA128820 rs397514461	170	A>P	Langer mesomelic dysplasia syndrome Leri-Weill dyschondrosteosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000394044 RCV000010554 VAR_012346 rs137852556 CA254919	173	R>C	Variant assessed as Somatic; impact. Leri-Weill dyschondrosteosis LWD [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000256218 rs778921118	176	E>=	SHOX-related short stature [ClinVar]	Yes	ClinVar dbSNP
rs778921118 RCV000518475 CA325623412 RCV000256224 CA10330024	176	E>D	SHOX-related short stature [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002247313 rs137852552 RCV000596801 CA213424 RCV000010547	195	R>*	Variant assessed as Somatic; 0.0 impact. Leri-Weill dyschondrosteosis SHOX-related short stature [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA254909 rs137852553 RCV000010548	199	Y>*	Leri-Weill dyschondrosteosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs757845999 RCV000992980 RCV002249598	243	P>missing	Leri-Weill dyschondrosteosis [ClinVar]	Yes	ClinVar dbSNP
rs757845999 RCV002247314 RCV000010557	244	P>missing	Langer mesomelic dysplasia syndrome Leri-Weill dyschondrosteosis [ClinVar]	Yes	ClinVar dbSNP
rs1060499711 CA412232304 RCV000449504	268	K>R	SHOX-related short stature [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000010560 CA254926 rs137852559	293	L>R	Leri-Weill dyschondrosteosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
TCGA novel	4	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1362741764 CA412230557	4	L>P		No	ClinGen gnomAD
rs1468114661 CA412230560	5	T>A		No	ClinGen TOPMed gnomAD
CA412230563 rs1160241771	5	T>R		No	ClinGen gnomAD
rs745371572 CA412230588	9	S>C		No	ClinGen ExAC TOPMed gnomAD
CA412230589 rs745371572	9	S>F		No	ClinGen ExAC TOPMed gnomAD
CA10329828 rs745371572	9	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1334507288 CA412230615	13	D>A		No	ClinGen gnomAD
RCV001289217 CA412230612 rs1469223043	13	D>N		No	ClinGen ClinVar dbSNP gnomAD
rs1396868992 CA412230627	14	Q>H		No	ClinGen gnomAD
TCGA novel	15	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10329830 rs779557567	16	S>N		No	ClinGen ExAC gnomAD
CA412230656 rs368409954	18	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs768402466 CA10329832	18	D>G		No	ClinGen ExAC TOPMed gnomAD
CA412230655 rs768402466	18	D>V		No	ClinGen ExAC TOPMed gnomAD
rs748023493 CA10329834	19	G>D		No	ClinGen ExAC TOPMed gnomAD
rs748023493 CA10329835	19	G>V		No	ClinGen ExAC TOPMed gnomAD
CA412230662 rs1222199010	20	N>D		No	ClinGen gnomAD
rs1569493126 CA412230668 COSM364849	20	N>K	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA10329837 rs773266910	21	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs767687473 CA10329838	22	G>A		No	ClinGen ExAC TOPMed gnomAD
CA412230678 rs767687473 COSM1315627	22	G>E	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA412230676 rs1249317193	22	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10329840 rs761008675	24	G>R		No	ClinGen ExAC TOPMed gnomAD
CA412230697 rs1427274048	26	G>S		No	ClinGen TOPMed
rs968942008 CA325619426	27	G>A		No	ClinGen TOPMed gnomAD
rs747349135 RCV000713283	27	G>missing		No	ClinVar dbSNP
RCV001287957 rs1170526645	28	G>R		No	ClinVar dbSNP
CA412230708 rs1170526645	28	G>S		No	ClinGen TOPMed
rs922119511 CA325619444	30	K>E		No	ClinGen TOPMed gnomAD
rs776789883 RCV001662640 RCV000595064	30	K>missing		No	ClinVar dbSNP
CA325619446 rs954879997	30	K>R		No	ClinGen TOPMed gnomAD
CA325619449 rs987652246	31	D>V		No	ClinGen TOPMed
rs751747648 CA412230751	34	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs751747648 CA325619455	34	T>R		No	ClinGen 1000Genomes gnomAD
TCGA novel	35	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10329846 rs757712337	36	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757408441 CA10329845	36	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs765654795 CA10329847	37	E>K	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1337104552 CA412230770	38	V>I		No	ClinGen gnomAD
rs1274781061 CA412230785	40	E>Q		No	ClinGen gnomAD
rs1443811290 CA412230801 CA412230799	42	G>R		No	ClinGen TOPMed gnomAD
rs779647794 CA10329850	44	A>E		No	ClinGen ExAC TOPMed gnomAD
rs779647794 CA412230813	44	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751167018 CA412230818	45	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751167018 COSM1558522 CA10329851	45	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1169423632 CA412230827	47	R>W		No	ClinGen gnomAD
CA412230846 rs1298294957	50	G>R		No	ClinGen TOPMed
CA412230853 rs1569493153	51	T>K		No	ClinGen Ensembl
CA10329856 rs777550538	53	D>H		No	ClinGen ExAC gnomAD
rs1328530010 CA412230882	55	S>R		No	ClinGen gnomAD
rs150426690 CA412230893	57	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10329858 rs150426690	57	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA412230908 rs1358124000	59	I>T		No	ClinGen gnomAD
CA412230917 rs865836947	61	E>K		No	ClinGen gnomAD
rs865836947 CA325619511	61	E>Q		No	ClinGen gnomAD
CA412230928 rs1259438484	62	G>D		No	ClinGen gnomAD
CA412230924 rs1204450592	62	G>S		No	ClinGen TOPMed gnomAD
CA10329860 rs138243769	63	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	64	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371578837 CA10329861	64	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10329862 rs777056573	65	H>Q		No	ClinGen ExAC gnomAD
CA412230947 rs1443010174 COSM757930	66	C>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA412230958 rs765679079	67	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10329864 rs765679079	67	P>R		No	ClinGen ExAC TOPMed gnomAD
CA10329863 rs200663078	67	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1287586365 CA412230964	68	V>G		No	ClinGen gnomAD
rs1044978354 CA325619555	69	H>L		No	ClinGen TOPMed gnomAD
rs1044978354 CA412230967	69	H>R		No	ClinGen TOPMed gnomAD
rs751077122 CA10329868	69	H>Y		No	ClinGen ExAC gnomAD
CA412230972 rs1241586840	70	L>V		No	ClinGen TOPMed
CA325619558 rs375027970	71	F>L		No	ClinGen ESP TOPMed gnomAD
CA10329869 rs754554221	71	F>S		No	ClinGen ExAC gnomAD
CA325619566 rs778804130	72	K>E		No	ClinGen 1000Genomes
CA412231003 rs1556457955 COSM3694674	74	H>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	75	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	76	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	80	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10329873 rs755835580	82	L>P		No	ClinGen ExAC gnomAD
rs1385747758 CA412231066	83	K>E		No	ClinGen TOPMed
rs777653076 CA10329875	86	G>R		No	ClinGen ExAC gnomAD
rs777653076 CA10329874	86	G>S		No	ClinGen ExAC gnomAD
rs780215482 CA10329877	87	T>I		No	ClinGen ExAC TOPMed gnomAD
CA10329878 rs747077800	88	A>S		No	ClinGen ExAC gnomAD
rs747077800 CA412231098	88	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768911508 CA10329879	89	R>S		No	ClinGen ExAC gnomAD
CA412231118 rs1214244701	91	A>E		No	ClinGen TOPMed gnomAD
rs1365989267 CA412231127	92	E>D		No	ClinGen gnomAD
rs746224384 CA10329939	93	G>A		No	ClinGen ExAC gnomAD
rs1458226053 CA412231129	93	G>W		No	ClinGen gnomAD
CA10329940 rs780588714	94	I>F		No	ClinGen ExAC gnomAD
CA412231157 rs1200647044	95	Y>S		No	ClinGen gnomAD
CA412231161 rs1271721584	96	E>K		No	ClinGen TOPMed gnomAD
CA412231175 rs1481782573	97	C>*		No	ClinGen TOPMed
rs1481760686 CA412231170	97	C>R		No	ClinGen gnomAD
TCGA novel	98	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	98	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10329943 rs776301574 COSM1123836	99	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs768170715 CA412231186	99	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768170715 CA10329942	99	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA412231197 rs1358528513	100	K>N		No	ClinGen TOPMed
rs761493152 CA10329944	101	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758706054 CA10329945 COSM3694676	101	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs758706054 CA412231201	101	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761493152 CA325621117	101	R>S		No	ClinGen ExAC TOPMed gnomAD
CA10329946 rs773058151	103	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1167515860 CA412231220	104	V>A		No	ClinGen gnomAD
rs199774904 CA325621133	106	S>W		No	ClinGen Ensembl
CA412231239 rs1308710931	107	E>G		No	ClinGen gnomAD
rs1431633029 CA412231237	107	E>K		No	ClinGen TOPMed gnomAD
CA10329950 rs746842667 CA412231255	109	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs202119896 CA10329949	109	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA10329948 rs202119896	109	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA412231257 rs1424555604	110	D>Y		No	ClinGen TOPMed
CA10329952 rs753917136	111	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs764179159 CA10329951	111	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA412231270 rs1425206026	112	Q>E		No	ClinGen TOPMed
rs779090116 CA10329954 CA412231273	112	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA412231268 rs1425206026	112	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10329953 rs757391565	112	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA10329955 rs750688301	113	T>A		No	ClinGen ExAC TOPMed gnomAD
rs758757973 CA10329956	113	T>N		No	ClinGen ExAC TOPMed gnomAD
CA412231276 rs758757973	113	T>S		No	ClinGen ExAC TOPMed gnomAD
CA325621154 rs200593538	114	K>E		No	ClinGen Ensembl
CA412231283 rs1215651574	114	K>N		No	ClinGen gnomAD
rs1451917593 CA412231291	116	K>E		No	ClinGen TOPMed gnomAD
rs1156913752 CA412231303	117	Q>H		No	ClinGen TOPMed
CA10329958 rs747499580	118	R>K		No	ClinGen ExAC gnomAD
rs747499580 CA10329957	118	R>T		No	ClinGen ExAC gnomAD
rs1169361224 CA412231313	119	R>H		No	ClinGen gnomAD
rs2052711755 RCV001289216	121	R>G		No	ClinVar dbSNP
rs1384656900 CA412231327	121	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA412231329 rs1384656900 RCV000594385	121	R>P		No	ClinGen ClinVar dbSNP gnomAD
rs772968320 CA10329962	122	T>S		No	ClinGen ExAC TOPMed gnomAD
CA412231340 rs1489046955	123	N>K		No	ClinGen gnomAD
rs988552397 CA412231338	123	N>S		No	ClinGen TOPMed gnomAD
CA325621174 rs988552397	123	N>T		No	ClinGen TOPMed gnomAD
rs1364193794 CA412231360	126	L>R		No	ClinGen TOPMed
rs1404909730 CA412231357	126	L>V		No	ClinGen TOPMed
rs1362654411 CA412231365	127	E>G		No	ClinGen gnomAD
rs1318947960 CA412231362 RCV000713276	127	E>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs770714249 CA412231388 CA10329964	130	N>K		No	ClinGen ExAC TOPMed gnomAD
CA10329965 rs374188319	131	E>D		No	ClinGen ESP ExAC gnomAD
CA412231389 rs1297741376	131	E>K		No	ClinGen gnomAD
rs1297741376 CA412231390	131	E>Q		No	ClinGen gnomAD
rs1603285352 CA412231406 RCV000992976	133	E>D		No	ClinGen ClinVar Ensembl dbSNP
CA412231401 rs767349016	133	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10329967 rs767349016	133	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1413572528 CA412231412	134	R>L		No	ClinGen TOPMed
RCV000992977 CA412231415 rs1603285354	135	L>V		No	ClinGen ClinVar Ensembl dbSNP
rs367787242 CA10329969	137	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10329968 rs761855403	137	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750602920 CA10329970	138	E>D		No	ClinGen ExAC gnomAD
rs758570651 CA10329971	139	T>I		No	ClinGen ExAC gnomAD
rs1265251936 CA412231441	139	T>P		No	ClinGen TOPMed
TCGA novel	140	H>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192844455 CA412231447	140	H>Y		No	ClinGen TOPMed
CA325621235 rs781759203	143	D>E		No	ClinGen ExAC TOPMed gnomAD
rs748705087 CA10329976	144	A>P		No	ClinGen ExAC gnomAD
COSM3694679 rs748705087 CA412231475	144	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10329977 rs755649879	145	F>L		No	ClinGen ExAC gnomAD
CA10329978 rs777451265	146	M>L		No	ClinGen ExAC gnomAD
rs532052827 RCV000322951 CA10329979	146	M>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA325621250 rs886043634 RCV000369436	147	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA412231496 rs886043634	147	R>L		No	ClinGen TOPMed gnomAD
rs1341043286 CA412231509	149	E>A		No	ClinGen gnomAD
CA412231506 rs1304106430	149	E>K		No	ClinGen TOPMed
CA10329986 rs765251991	155	G>R		No	ClinGen ExAC gnomAD
CA412231551 rs1482394464	156	L>I		No	ClinGen TOPMed gnomAD
rs751858866 CA412231572	159	A>S		No	ClinGen ExAC gnomAD
rs751858866 CA10329990	159	A>T		No	ClinGen ExAC gnomAD
CA412231575 rs1180599491	159	A>V		No	ClinGen gnomAD
COSM1123837 CA10329992 rs768025022	160	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1159449478 CA412231579	160	R>P		No	ClinGen TOPMed gnomAD
RCV001269664 rs2052840352	165	F>L		No	ClinVar dbSNP
rs2052840553 RCV001194240	169	R>K		No	ClinVar dbSNP
rs1222850684 CA412231671	172	C>G		No	ClinGen gnomAD
CA10330023 rs746801054	173	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1249369035 CA412231698	176	E>Q		No	ClinGen gnomAD
CA10330025 rs748251503	178	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA10330026 rs748149272	179	M>L		No	ClinGen ExAC gnomAD
rs1171735445 CA412231722	179	M>T		No	ClinGen TOPMed
rs371772960 CA10330027	180	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs202144835 CA10330030 RCV002248809 RCV000595500	181	K>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs759770015 CA10330029	181	K>T		No	ClinGen ExAC gnomAD
rs138998412	182	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10330059 rs752189039	183	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10330058 RCV000713279 rs752189039	183	V>I		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs754674232 CA10330060	184	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1275922514 CA412231778	186	G>D		No	ClinGen gnomAD
rs752536855 CA10330062	187	T>A		No	ClinGen ExAC gnomAD
CA412231783 rs1251071525	187	T>K		No	ClinGen TOPMed gnomAD
CA412231791 rs1603287323	188	A>V		No	ClinGen Ensembl
CA412231797 rs1445888745	189	N>T		No	ClinGen gnomAD
CA412231794 rs1482023376	189	N>Y		No	ClinGen gnomAD
CA412231819 rs200088460	192	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
RCV002222476 rs376330042 CA10330066 RCV000344860	193	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs188370909 CA412231835	195	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10330068 rs188370909	195	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1369309485 CA412231837	196	V>M		No	ClinGen gnomAD
CA412231851 rs1356032089	198	P>S		No	ClinGen TOPMed
CA412231858 rs1309060961	199	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs371048081 CA10330071	200	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
RCV001269649 rs2052845246	202	M>missing		No	ClinVar dbSNP
COSM1644048 CA412231880 rs1461126707	202	M>I	stomach [Cosmic]	No	ClinGen cosmic curated TOPMed
rs773671345 CA10330072	202	M>R		No	ClinGen ExAC TOPMed gnomAD
CA412231888 rs1346676639	203	G>V		No	ClinGen gnomAD
rs763473105 CA412231892	204	A>D		No	ClinGen ExAC TOPMed gnomAD
rs763473105 CA412231893	204	A>G		No	ClinGen ExAC TOPMed gnomAD
CA10330073 rs763473105	204	A>V		No	ClinGen ExAC TOPMed gnomAD
rs765818786 CA10330074	205	L>S		No	ClinGen ExAC gnomAD
rs759039782 CA10330076	206	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10330075 rs773859404	206	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA412231911 rs1251005489	207	M>I		No	ClinGen gnomAD
CA412231917 rs1249876386	208	P>L		No	ClinGen TOPMed
CA412231914 rs1450768132	208	P>S		No	ClinGen gnomAD
COSM757926 rs1197034794 CA412231925	209	F>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs962604174 CA325624585	213	Q>H		No	ClinGen TOPMed
rs1335171952 CA412231968 RCV000713281	214	A>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs760264969 CA10330097	214	A>V		No	ClinGen ExAC gnomAD
rs1266544141 CA412231990	217	Q>R		No	ClinGen gnomAD
rs1323149819 CA412232017	221	V>G		No	ClinGen TOPMed
CA10330098 rs763919225	221	V>L		No	ClinGen ExAC gnomAD
CA412232018 rs1190158649	222	A>T		No	ClinGen gnomAD
rs1472432567 CA412232030	223	H>Q		No	ClinGen gnomAD
CA10330101 rs761766955	226	P>A		No	ClinGen ExAC gnomAD
rs1448365660 CA412232050	226	P>R		No	ClinGen TOPMed
rs1400826023 CA412232053	227	H>Y		No	ClinGen gnomAD
CA412232073 rs1294980290	230	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	230	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	230	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356005674 CA412232080	231	H>N		No	ClinGen gnomAD
rs1447553695 CA412232081	231	H>P		No	ClinGen TOPMed
TCGA novel	231	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356005674 CA412232079	231	H>Y		No	ClinGen gnomAD
rs750375727 CA412232093	233	A>E		No	ClinGen ExAC TOPMed gnomAD
rs765253480 CA10330102	233	A>T		No	ClinGen ExAC gnomAD
CA10330103 rs750375727 RCV000516780	233	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1239977542 CA412232100	234	A>V		No	ClinGen gnomAD
rs1202713206 CA412232106	235	H>Q		No	ClinGen TOPMed gnomAD
CA10330105 rs781156315	235	H>R		No	ClinGen ExAC gnomAD
TCGA novel	235	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258915378 CA412232110	236	A>P		No	ClinGen TOPMed gnomAD
rs1258915378 CA412232108	236	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	236	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412232119 rs1483008877	237	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
RCV000517711 rs1556468777	238	Y>missing		No	ClinVar dbSNP
CA412232139 rs1414612496	240	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1227869922 CA412232135	240	M>L		No	ClinGen TOPMed
rs752020837 CA10330107	241	F>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752020837 CA10330106 RCV000713284	241	F>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA412232146 rs886042718	241	F>L		No	ClinGen TOPMed gnomAD
CA412232144 rs1299862673	241	F>S		No	ClinGen TOPMed
rs752020837 CA412232142	241	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412232150 rs1464162820	242	P>R		No	ClinGen gnomAD
CA10330109 rs778039535	242	P>T		No	ClinGen ExAC gnomAD
rs374024890 CA325624638	243	P>A		No	ClinGen ExAC gnomAD
CA412232156 rs1376045127	243	P>L		No	ClinGen gnomAD
rs757845999	243	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10330110 rs374024890	243	P>S		No	ClinGen ExAC gnomAD
rs757845999	244	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1319210411 CA412232166	245	P>H		No	ClinGen gnomAD
rs1224552361 CA412232182	247	G>E		No	ClinGen gnomAD
rs1375188285 CA412232177	247	G>R		No	ClinGen gnomAD
TCGA novel	250	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416524454 CA412232195	250	I>V		No	ClinGen TOPMed
rs746390527 CA10330113	251	A>E		No	ClinGen ExAC gnomAD
CA412232210 rs1281106288	252	S>*		No	ClinGen gnomAD
TCGA novel	256	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1481131773 CA412232237	257	A>S		No	ClinGen gnomAD
rs1481131773 CA412232238	257	A>T		No	ClinGen gnomAD
rs760304872 CA10330116	257	A>V		No	ClinGen ExAC gnomAD
CA412232253 rs1569495211	259	A>G		No	ClinGen Ensembl
CA412232248 rs1185240022	259	A>T		No	ClinGen TOPMed
CA412232254 rs1175018131	260	A>T		No	ClinGen gnomAD
rs1395116910 CA412232264	261	A>G		No	ClinGen gnomAD
rs928327753 CA325624668	262	V>A		No	ClinGen TOPMed gnomAD
rs1292719934 CA412232279	264	A>S		No	ClinGen gnomAD
rs1340369865 CA412232289	266	A>T		No	ClinGen TOPMed
TCGA novel	267	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412232295 rs1365822521	267	A>T		No	ClinGen gnomAD
CA325624678 rs988593612	268	K>Q		No	ClinGen TOPMed
rs1282959443 CA412232311	269	S>I		No	ClinGen TOPMed
rs398123403 CA412232370	277	A>S		No	ClinGen TOPMed
RCV000078909 rs398123403 CA220964	277	A>T		No	ClinGen ClinVar TOPMed dbSNP
CA412232391 rs1476996812	280	R>P		No	ClinGen TOPMed gnomAD
rs1221356869 CA412232388	280	R>W		No	ClinGen gnomAD
TCGA novel	283	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161412116 CA412232435	287	A>T		No	ClinGen TOPMed
rs1195056311 CA412232438	287	A>V		No	ClinGen gnomAD
CA412232452 rs1448279451	289	A>V		No	ClinGen gnomAD
rs1410446442 CA412232468	292	L>P		No	ClinGen gnomAD

No associated diseases with O15266

5 regional properties for O15266

Type	Name	Position	InterPro Accession
domain	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain	481 - 814	IPR002073
domain	GAF domain	71 - 230	IPR003018-1
domain	GAF domain	252 - 439	IPR003018-2
domain	HD/PDEase domain	554 - 741	IPR003607
conserved_site	3'5'-cyclic nucleotide phosphodiesterase, conserved site	597 - 608	IPR023174

Functions

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

4 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

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

3 GO annotations of biological process

Name	Definition
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).

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
Q9NQ69	LHX9	LIM/homeobox protein Lhx9	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
P50458	LHX2	LIM/homeobox protein Lhx2	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
MEELTAFVSK	SFDQKSKDGN	GGGGGGGGKK	DSITYREVLE	SGLARSRELG	TSDSSLQDIT
70	80	90	100	110	120
EGGGHCPVHL	FKDHVDNDKE	KLKEFGTARV	AEGIYECKEK	REDVKSEDED	GQTKLKQRRS
130	140	150	160	170	180
RTNFTLEQLN	ELERLFDETH	YPDAFMREEL	SQRLGLSEAR	VQVWFQNRRA	KCRKQENQMH
190	200	210	220	230	240
KGVILGTANH	LDACRVAPYV	NMGALRMPFQ	QVQAQLQLEG	VAHAHPHLHP	HLAAHAPYLM
250	260	270	280	290
FPPPPFGLPI	ASLAESASAA	AVVAAAAKSN	SKNSSIADLR	LKARKHAEAL	GL