AiPD: Autoinhibited Protein Database

P35452

Gene name	HOXD12 (HOX4H)
Protein name	Homeobox protein Hox-D12
Names	Homeobox protein Hox-4H
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3238
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

102-175 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

102-175 (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 P35452

Entry ID	Method	Resolution	Chain	Position	Source
AF-P35452-F1	Predicted				AlphaFoldDB

344 variants for P35452

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA349354065 rs1471233511	2	C>*		No	ClinGen gnomAD
rs757708605 CA1976745	2	C>Y		No	ClinGen ExAC gnomAD
CA349354070 rs1174652093	3	E>G		No	ClinGen gnomAD
rs935730680 CA60852348	3	E>Q		No	ClinGen Ensembl
CA349354075 rs779359989	4	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1976746 rs779359989	4	R>S		No	ClinGen ExAC TOPMed gnomAD
rs746273473 CA60852350	5	S>R		No	ClinGen Ensembl
rs1358610228 CA349354083	5	S>T		No	ClinGen TOPMed
CA1976748 rs758111112	7	Y>C		No	ClinGen ExAC gnomAD
rs1409442508 CA349354104	8	R>S		No	ClinGen gnomAD
CA60852361 rs1029875606	9	A>E		No	ClinGen TOPMed gnomAD
rs1244043959 CA349354106	9	A>T		No	ClinGen TOPMed
rs368927800 CA1976750	10	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1976749 rs368927800	10	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1976751 rs372974678	11	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA349354127 rs1559110732	12	V>G		No	ClinGen Ensembl
CA1976753 rs748110054	13	G>A		No	ClinGen ExAC gnomAD
rs1574945922 CA349354129	13	G>R		No	ClinGen Ensembl
CA349354138 rs1315835815	14	S>L		No	ClinGen TOPMed
rs769569431 CA1976754	15	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1976756 rs762620570	17	N>H		No	ClinGen ExAC gnomAD
CA1976757 rs377187797	18	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1478745415 CA349354162	19	Q>*		No	ClinGen gnomAD
rs775673870 CA1976758	19	Q>P		No	ClinGen ExAC gnomAD
rs760823323 CA1976759	20	S>*		No	ClinGen ExAC gnomAD
CA1976762 rs757796640	21	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1976761 rs753870143	21	P>S		No	ClinGen ExAC gnomAD
rs1434341026 CA349354194	24	F>S		No	ClinGen gnomAD
rs750849935 CA1976764	26	F>L		No	ClinGen ExAC gnomAD
rs750849935 CA349354207	26	F>V		No	ClinGen ExAC gnomAD
rs1299526576 CA349354214	27	S>P		No	ClinGen gnomAD
CA1976766 rs775920159	29	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1292109087 CA349354234	30	R>M		No	ClinGen gnomAD
CA1976767 rs751260409	30	R>W		No	ClinGen ExAC gnomAD
rs901179630 CA60852435	32	N>I		No	ClinGen Ensembl
rs370358369 CA1976768	34	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370358369 CA1976769	34	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1976771 rs769806708	37	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1450433529 CA349354277	37	A>S		No	ClinGen TOPMed
CA1976772 rs777546094	38	A>V		No	ClinGen ExAC gnomAD
rs1449296106 CA349354287	39	L>F		No	ClinGen gnomAD
CA349354297 rs749162512	41	P>A		No	ClinGen ExAC TOPMed gnomAD
CA349354300 rs1221775123	41	P>L		No	ClinGen TOPMed
rs1221775123 CA349354299	41	P>R		No	ClinGen TOPMed
CA1976773 rs749162512	41	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA60852482 rs749162512	41	P>T		No	ClinGen ExAC TOPMed gnomAD
rs202101963 CA1976775	42	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1373817873 CA349354312	43	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA349354316 rs1322912633	44	Y>C		No	ClinGen TOPMed gnomAD
rs1322912633 CA349354318	44	Y>S		No	ClinGen TOPMed gnomAD
rs532659358 CA349354324	45	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs532659358 CA1976777	45	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs532659358 CA1976776	45	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1338562459 CA349354323	45	P>S		No	ClinGen TOPMed
CA1976780 rs761777016	46	R>C		No	ClinGen ExAC gnomAD
CA60852513 rs887230889	46	R>P		No	ClinGen Ensembl
rs1006043488 CA60852533	47	G>A		No	ClinGen Ensembl
rs1362735312 CA349354330	47	G>R		No	ClinGen gnomAD
CA349354331 rs1362735312	47	G>S		No	ClinGen gnomAD
CA1976785 rs766861465	48	A>P		No	ClinGen ExAC gnomAD
CA349354334 rs766861465	48	A>S		No	ClinGen ExAC gnomAD
CA60852567 rs766861465	48	A>T		No	ClinGen ExAC gnomAD
rs1226269459 CA349354348	50	P>L		No	ClinGen gnomAD
rs1235045201 CA349354352	51	W>*		No	ClinGen TOPMed
TCGA novel	51	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	54	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1317032777 CA349354373	54	T>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA60852582 rs992037978	56	A>S		No	ClinGen TOPMed gnomAD
rs1184526781 CA349354392	57	S>F	Variant assessed as Somatic; 4.917e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA60852593 rs894260752	58	C>*		No	ClinGen gnomAD
rs1216506512 CA349354401	59	A>P		No	ClinGen TOPMed gnomAD
rs1216506512 CA349354400	59	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA60852603 rs913772468	59	A>V		No	ClinGen TOPMed gnomAD
rs777830866 CA1976793	60	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	60	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA60852643 rs1024148393	61	A>E		No	ClinGen Ensembl
rs749199267 CA1976794	61	A>S		No	ClinGen ExAC TOPMed gnomAD
CA349354414 rs1157058347	62	Q>E		No	ClinGen gnomAD
rs1386311928 CA349354419	62	Q>L		No	ClinGen gnomAD
CA349354430 rs1337080343	64	A>E		No	ClinGen gnomAD
CA1976796 rs778715929	64	A>T		No	ClinGen ExAC gnomAD
rs1342101725 CA349354437	65	G>D		No	ClinGen gnomAD
rs367585361 CA60852650	66	A>V		No	ClinGen Ensembl
CA1976797 rs745636184	69	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1229656917 CA349354465	70	G>C		No	ClinGen gnomAD
CA349354471 rs1204928846	71	G>D		No	ClinGen gnomAD
CA1976800 rs762021556	71	G>S		No	ClinGen ExAC gnomAD
rs1441084937 CA349354493	74	Q>H		No	ClinGen gnomAD
CA1976801 rs769768602	74	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA1976802 rs146731562	75	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1255038370 CA349354504	76	Y>*		No	ClinGen gnomAD
rs529994924 CA1976804	76	Y>F		No	ClinGen ExAC gnomAD
rs763390630 CA1976803	76	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs201839891 CA1976805	77	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM717661 rs1411342095 CA349354515	78	A>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA349354520 rs1456626319	79	G>D		No	ClinGen TOPMed gnomAD
rs1456626319 CA349354519	79	G>V		No	ClinGen TOPMed gnomAD
rs1412494525 CA349354526	80	S>C		No	ClinGen gnomAD
rs1404059970 CA349354523	80	S>P		No	ClinGen gnomAD
CA60852717 rs2551807	81	G>A		No	ClinGen Ensembl
rs957177655 CA60852719	82	P>L		No	ClinGen Ensembl
rs1004805739 CA60852718	82	P>T		No	ClinGen TOPMed gnomAD
rs1443640951 CA349354539	83	L>F		No	ClinGen TOPMed
rs767333315 CA1976808	84	G>C		No	ClinGen ExAC TOPMed gnomAD
CA60852722 rs963124517	84	G>D		No	ClinGen TOPMed gnomAD
rs767333315 CA1976807	84	G>R		No	ClinGen ExAC TOPMed gnomAD
rs767333315 CA349354543	84	G>S		No	ClinGen ExAC TOPMed gnomAD
CA1976810 rs763537852	85	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1976811 rs763537852	85	L>R		No	ClinGen ExAC TOPMed gnomAD
CA349354561 rs1389251242	87	P>R		No	ClinGen TOPMed gnomAD
rs1274154319 CA349354559	87	P>S		No	ClinGen gnomAD
rs778803850 CA1976814	92	D>E		No	ClinGen ExAC
rs1182906243 CA349354592	92	D>G		No	ClinGen TOPMed
CA349354599 rs1480833444	93	G>E		No	ClinGen gnomAD
CA349354596 rs1469575547	93	G>R		No	ClinGen TOPMed
rs1231055182 CA349354607	94	P>R		No	ClinGen TOPMed
rs745722143 CA1976815	96	E>D		No	ClinGen ExAC gnomAD
CA349354616 rs1379258167	96	E>K		No	ClinGen gnomAD
CA349354625 rs1171724747	97	Q>*		No	ClinGen gnomAD
rs1189397661 CA349354629	97	Q>H		No	ClinGen TOPMed
CA349354634 rs1431253337	98	A>D		No	ClinGen gnomAD
CA1976816 rs758185139	98	A>T		No	ClinGen ExAC gnomAD
CA1976817 rs371388978	99	K>N		No	ClinGen ESP ExAC gnomAD
rs1369377183 CA349354649	100	F>L		No	ClinGen gnomAD
rs1002252417 CA60852792	101	Y>*		No	ClinGen TOPMed
CA349354652 rs1386793222	101	Y>H		No	ClinGen gnomAD
rs139519037 CA1976819	102	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs558043201 CA1976818	102	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762062868 CA1976820	103	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1976821 rs749355217	103	P>H		No	ClinGen ExAC TOPMed gnomAD
CA60852826 rs749355217	103	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774982008 CA1976823	104	E>G		No	ClinGen ExAC gnomAD
CA1976822 rs771611911	104	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	105	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349354679 rs1323289138	106	A>P		No	ClinGen gnomAD
rs577079710 CA1976825	106	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA349354684 rs1211646314	107	A>S		No	ClinGen TOPMed gnomAD
CA349354682 rs1211646314	107	A>T		No	ClinGen TOPMed gnomAD
rs767996034 CA1976826	108	G>R		No	ClinGen ExAC gnomAD
rs1396044450 CA349354692	108	G>V		No	ClinGen gnomAD
CA349354702 rs1390528586	110	E>A		No	ClinGen TOPMed gnomAD
rs1389122887 CA349354718	112	R>H		No	ClinGen gnomAD
rs1320509423 CA349354722	113	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	114	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349354735 rs1294714783	115	T>S		No	ClinGen gnomAD
CA1976835 rs750366434	116	R>G		No	ClinGen ExAC TOPMed gnomAD
rs572921135 CA349354740	116	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1976836 rs572921135	116	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1976834 rs750366434	116	R>W		No	ClinGen ExAC TOPMed gnomAD
rs756331057 CA1976838	117	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756331057 CA349354744	117	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs756331057 CA1976837	117	P>R		No	ClinGen ExAC TOPMed gnomAD
rs771125796 CA60852917	118	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1976840 rs771125796	118	S>F		No	ClinGen ExAC TOPMed gnomAD
CA1976839 rs370271572	118	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA349354754 rs774503804	119	F>L		No	ClinGen ExAC TOPMed gnomAD
CA349354749 rs1322495619	119	F>L		No	ClinGen gnomAD
CA349354761 rs1263759478	120	A>V		No	ClinGen gnomAD
rs574133358 CA1976843	121	P>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	122	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1976846 rs560220561	125	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA1976848 rs761389454	126	A>S		No	ClinGen ExAC gnomAD
CA349354793 rs761389454	126	A>T		No	ClinGen ExAC gnomAD
CA1976849 rs764741701	126	A>V		No	ClinGen ExAC gnomAD
TCGA novel	128	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371620811 CA1976850	129	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159299631 CA349354824	131	A>G		No	ClinGen gnomAD
CA349354820 rs1456926051	131	A>T		No	ClinGen TOPMed gnomAD
rs1159299631 CA349354823	131	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1976851 rs762907983	132	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA349354829 rs1456125553	132	L>P		No	ClinGen TOPMed gnomAD
CA349354826 rs762907983	132	L>V		No	ClinGen ExAC TOPMed gnomAD
rs376577026 CA1976853	134	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA349354843 rs1397979277	134	A>V		No	ClinGen gnomAD
CA349354845 rs754784858	135	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1976854 rs754784858	135	A>T		No	ClinGen ExAC TOPMed gnomAD
CA349354850 rs1161481667	136	K>E		No	ClinGen TOPMed
CA349354857 rs1229035328	136	K>N		No	ClinGen TOPMed gnomAD
CA1976855 rs777920895	138	D>H		No	ClinGen ExAC gnomAD
rs1206806789 CA349354877	139	Y>C		No	ClinGen TOPMed gnomAD
rs754114080 CA1976856	139	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs33921199 CA1976857	140	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779167416 CA1976858	140	A>V		No	ClinGen ExAC gnomAD
rs745915759 CA1976859	141	G>S		No	ClinGen ExAC gnomAD
CA349354890 rs1422884286	142	V>M		No	ClinGen gnomAD
rs964223599 CA60853085	143	G>S		No	ClinGen Ensembl
rs1413609020 CA349354903	144	R>H		No	ClinGen TOPMed gnomAD
CA1976860 rs772507540	144	R>S		No	ClinGen ExAC gnomAD
rs1242544270 CA349354908	145	A>D		No	ClinGen gnomAD
rs372364913 CA349354907	145	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372364913 CA1976861	145	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1467853960 CA349354920	147	P>L		No	ClinGen TOPMed gnomAD
CA1976863 rs369707719	147	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401682092 CA349354925	148	G>D		No	ClinGen gnomAD
rs1410678188 CA349354937	150	T>K		No	ClinGen gnomAD
rs1410678188 CA349354939	150	T>M		No	ClinGen gnomAD
CA1976870 rs766284496	155	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1976871 rs766284496	155	G>W		No	ClinGen ExAC TOPMed gnomAD
rs759320612 CA1976872	156	A>T		No	ClinGen ExAC gnomAD
TCGA novel	156	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767354582 CA1976873	157	P>T		No	ClinGen ExAC gnomAD
rs898663752 CA60853156	159	A>S		No	ClinGen TOPMed gnomAD
CA349354987 rs898663752	159	A>T		No	ClinGen TOPMed gnomAD
CA60853158 rs868390508	159	A>V		No	ClinGen Ensembl
CA1976874 rs374833814	160	P>A		No	ClinGen ESP ExAC gnomAD
rs750591839 CA1976877	161	G>D		No	ClinGen ExAC TOPMed gnomAD
rs779258952 CA1976876	161	G>S		No	ClinGen ExAC gnomAD
rs1174323547 CA349355016	164	D>N		No	ClinGen gnomAD
COSM717658 rs758504160 CA1976878	165	D>Y	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1976881 rs563160578	166	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1976879 rs779932058	166	T>P		No	ClinGen ExAC gnomAD
rs563160578 CA1976882	166	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1976880 rs779932058	166	T>S		No	ClinGen ExAC gnomAD
CA349355044 rs1319377000	168	G>D		No	ClinGen TOPMed gnomAD
rs1409232133 CA349355041	168	G>S		No	ClinGen gnomAD
rs1413093789 CA349355048	169	P>T		No	ClinGen gnomAD
rs200595232 CA1976887	171	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772837892 CA1976886	171	N>S		No	ClinGen ExAC gnomAD
rs1276278397 CA349355071	172	L>F		No	ClinGen gnomAD
rs1038473772 CA60853269	173	N>K		No	ClinGen Ensembl
rs770475280 CA1976888	174	M>R		No	ClinGen ExAC TOPMed gnomAD
rs770475280 CA349355082	174	M>T		No	ClinGen ExAC TOPMed gnomAD
CA349355080 rs1481889152	174	M>V		No	ClinGen gnomAD
rs916020660 CA60853273	175	T>A		No	ClinGen Ensembl
rs1246795816 CA349355089	175	T>K		No	ClinGen gnomAD
rs1306002994 CA349355096	176	V>A		No	ClinGen TOPMed
rs1489744795 CA349355106	178	A>T		No	ClinGen gnomAD
rs766187461 CA1976889	178	A>V		No	ClinGen ExAC TOPMed gnomAD
rs759538472 CA1976890	179	A>V		No	ClinGen ExAC gnomAD
rs1013559664 CA60853306	181	V>L		No	ClinGen TOPMed gnomAD
CA349355129 rs1170899381	182	A>S		No	ClinGen TOPMed gnomAD
rs548576948 CA1976893	183	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs548576948 CA1976894	183	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs758492954 CA1976897	186	R>*		No	ClinGen ExAC TOPMed gnomAD
VAR_071211 CA1976898 rs35817516	186	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA60853434 rs979333924	187	P>H		No	ClinGen TOPMed
rs755547207 CA1976900	189	L>M		No	ClinGen ExAC gnomAD
CA349355168 rs1299545617	190	P>T		No	ClinGen gnomAD
rs200423501	191	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA1976902 rs200423501	191	D>E		No	ClinGen ExAC TOPMed gnomAD
rs754288865 CA1976939	193	L>Q		No	ClinGen ExAC gnomAD
rs779274101 CA1976941	194	P>L		No	ClinGen ExAC gnomAD
rs746489417 CA349355273	195	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1234671693 CA349355275	195	W>*		No	ClinGen gnomAD
CA1976944 rs556070596	195	W>G		No	ClinGen 1000Genomes ExAC TOPMed
CA1976945 rs746489417	195	W>L		No	ClinGen ExAC TOPMed gnomAD
CA1976943 rs556070596	195	W>R		No	ClinGen 1000Genomes ExAC TOPMed
rs746489417 CA349355274	195	W>S		No	ClinGen ExAC TOPMed gnomAD
CA1976946 rs768766133	196	G>A		No	ClinGen ExAC gnomAD
rs1233810199 CA349355289	197	A>E		No	ClinGen gnomAD
rs1344619575	199	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1249926361 CA349355313	199	P>T		No	ClinGen gnomAD
TCGA novel	200	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1976949 rs748039138	200	G>E		No	ClinGen ExAC TOPMed gnomAD
CA60853689 rs1020914707	200	G>R		No	ClinGen TOPMed gnomAD
rs1020914707 CA349355321	200	G>W		No	ClinGen TOPMed gnomAD
CA349355332 rs1452291234	201	R>W		No	ClinGen gnomAD
rs2593776 CA349355351	202	A>D		No	ClinGen gnomAD
rs2593776 CA60853708	202	A>G		No	ClinGen gnomAD
rs1172817097 CA349355345	202	A>S		No	ClinGen gnomAD
CA349355355 rs2593776	202	A>V		No	ClinGen gnomAD
CA1976950 rs769477079	203	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1395222154 CA349355369	203	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA349355363 rs769477079	203	R>S		No	ClinGen ExAC TOPMed gnomAD
CA349355393 rs1387822652	205	K>E		No	ClinGen gnomAD
CA60853740 rs902509811	206	R>G		No	ClinGen TOPMed gnomAD
rs1369457034 CA349355439	208	P>L		No	ClinGen TOPMed gnomAD
CA1976952 rs759776588	210	T>K		No	ClinGen ExAC gnomAD
CA349355461 rs759776588	210	T>R		No	ClinGen ExAC gnomAD
rs1298802916 CA349355479	211	K>R		No	ClinGen TOPMed gnomAD
CA1976955 rs775585976	212	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1976953 rs772240327	212	Q>P		No	ClinGen ExAC gnomAD
CA1976956 rs764730141	214	I>T		No	ClinGen ExAC gnomAD
rs200022510 CA1976958	215	A>E		No	ClinGen 1000Genomes TOPMed
rs754307410 CA1976957	215	A>T		No	ClinGen ExAC TOPMed gnomAD
CA349355554 rs1227715345	216	E>D		No	ClinGen TOPMed
CA349355557 rs374634672	217	L>M		No	ClinGen ESP TOPMed gnomAD
rs765547858 CA1976961	217	L>W		No	ClinGen ExAC gnomAD
rs750764141 CA1976962	218	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA1976964 rs535102738	219	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA349355593 rs1453069790	219	N>S		No	ClinGen Ensembl
COSM1009843 CA1976965 rs751170501	220	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs754528726 CA1976966	221	F>L		No	ClinGen ExAC gnomAD
rs201890634 CA1976967	221	F>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1976968 rs748044473	223	V>I		No	ClinGen ExAC gnomAD
rs374418286 CA1976969	226	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370963153 CA60853915	226	F>V		No	ClinGen ESP TOPMed
rs777458680 CA1976970	227	I>M		No	ClinGen ExAC gnomAD
rs1291532918 CA349355809	230	Q>K		No	ClinGen gnomAD
CA349355822 rs1332577024	230	Q>L		No	ClinGen gnomAD
CA1976974 rs370854190	232	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370854190 CA1976973	232	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs772327874 CA1976972	232	R>S		No	ClinGen ExAC gnomAD
CA349355897 rs1475871822	234	E>A		No	ClinGen TOPMed
rs768632749 CA1976975	235	L>F		No	ClinGen ExAC gnomAD
rs545532882 CA1976976	236	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs765746572 CA1976978	237	N>K		No	ClinGen ExAC TOPMed gnomAD
CA1976977 rs199589140	237	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1976979 rs200542466	238	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200542466 CA1976980	238	R>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766199008 CA1976981	240	N>K		No	ClinGen ExAC gnomAD
rs751258470 CA1976982	242	S>R		No	ClinGen ExAC TOPMed gnomAD
rs754597040 CA1976983	243	D>H		No	ClinGen ExAC TOPMed gnomAD
COSM4138303 CA60854010 rs754597040	243	D>Y	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA60854019 rs938234226	244	Q>*		No	ClinGen TOPMed
rs938234226 CA349356075	244	Q>E		No	ClinGen TOPMed
CA349356089 rs752211766	246	V>I		No	ClinGen ExAC TOPMed gnomAD
rs752211766 CA1976985	246	V>L		No	ClinGen ExAC TOPMed gnomAD
CA60854024 rs1015750749	247	K>T		No	ClinGen gnomAD
CA1976986 rs756044524	248	I>T		No	ClinGen ExAC TOPMed gnomAD
CA349356112 rs1398063955	249	W>*		No	ClinGen gnomAD
rs777742860 CA1976987	249	W>R		No	ClinGen ExAC gnomAD
rs1249300933 CA349356122	250	F>L		No	ClinGen TOPMed
CA349356123 rs1291502828	251	Q>K		No	ClinGen gnomAD
CA349356127 rs1559111320	251	Q>R		No	ClinGen Ensembl
CA1976988 rs371944705	252	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs375056968 CA1976991	254	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs778622137 CA1976990	254	R>S		No	ClinGen ExAC gnomAD
rs918046041 CA60854096	255	M>K		No	ClinGen TOPMed
rs368697335 CA1976992	255	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs372188817 CA60854124	258	K>Q		No	ClinGen ESP TOPMed
rs974293161 CA60854141	259	R>L		No	ClinGen gnomAD
rs776618268 CA1976994	259	R>S		No	ClinGen ExAC TOPMed gnomAD
rs748239619 CA1976995	260	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770264230 CA1976996	261	V>A		No	ClinGen ExAC gnomAD
CA349356189 rs1175734609	261	V>L		No	ClinGen TOPMed
CA1976997 rs773849521	262	L>F		No	ClinGen ExAC gnomAD
CA349356199 rs1370140832	263	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763483706 CA1976998	263	R>W		No	ClinGen ExAC TOPMed gnomAD
rs200302685 CA1977001	264	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA349356202 rs752197047	264	E>A		No	ClinGen ExAC TOPMed gnomAD
CA1977003 rs752197047	264	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1977002 rs200302685	264	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs200302685 CA1977000	264	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs755634796 CA1977004	266	A>T		No	ClinGen ExAC gnomAD
CA1977005 rs544798154	266	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1574946629 CA349356623	267	L>R		No	ClinGen Ensembl
rs757138560 CA1977007	268	A>E		No	ClinGen ExAC gnomAD
rs757138560 CA349356636	268	A>G		No	ClinGen ExAC gnomAD
rs778711881 CA1977008	270	Y>C		No	ClinGen ExAC gnomAD
rs778711881 CA349356657	270	Y>S		No	ClinGen ExAC gnomAD
rs981501662 CA60854255	271	Y>Q		No	ClinGen gnomAD
CA349356671 rs1389661232	271	Y>W		No	ClinGen gnomAD
rs750205896 CA60854274 CA1977009	271	Y>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD

No associated diseases with P35452

4 regional properties for P35452

Type	Name	Position	InterPro Accession
domain	Homeobox domain	200 - 264	IPR001356
conserved_site	Homeobox, conserved site	235 - 258	IPR017970
domain	Homeobox domain, metazoa	224 - 235	IPR020479-1
domain	Homeobox domain, metazoa	239 - 258	IPR020479-2

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.

2 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.
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
embryonic digit morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe.
pattern specification process	Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate.
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).

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P23812	Hoxd12	Homeobox protein Hox-D12	Mus musculus (Mouse)	PR
P46603	HAT9	Homeobox-leucine zipper protein HAT9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6JIY5	hoxc13a	Homeobox protein Hox-C13a	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q9DDU0	hoxa11a	Homeobox protein Hox-A11a	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MCERSLYRAG	YVGSLLNLQS	PDSFYFSNLR	PNGGQLAALP	PISYPRGALP	WAATPASCAP
70	80	90	100	110	120
AQPAGATAFG	GFSQPYLAGS	GPLGLQPPTA	KDGPEEQAKF	YAPEAAAGPE	ERGRTRPSFA
130	140	150	160	170	180
PESSLAPAVA	ALKAAKYDYA	GVGRATPGST	TLLQGAPCAP	GFKDDTKGPL	NLNMTVQAAG
190	200	210	220	230	240
VASCLRPSLP	DGLPWGAAPG	RARKKRKPYT	KQQIAELENE	FLVNEFINRQ	KRKELSNRLN
250	260
LSDQQVKIWF	QNRRMKKKRV	VLREQALALY