AiPD: Autoinhibited Protein Database

Q9UMQ3

Gene name	BARX2
Protein name	Homeobox protein BarH-like 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8538
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

196-274 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

196-274 (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 Q9UMQ3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UMQ3-F1	Predicted				AlphaFoldDB

259 variants for Q9UMQ3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs371564225 CA6359568	2	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6359569 rs371564225	2	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs778035008 CA6359570	3	C>S		No	ClinGen ExAC gnomAD
CA6359572 rs771114155	6	E>A		No	ClinGen ExAC gnomAD
CA6359573 rs779188398	6	E>D		No	ClinGen ExAC gnomAD
rs749361325 CA6359571	6	E>Q		No	ClinGen ExAC gnomAD
CA383298097 rs1181279767	7	L>M		No	ClinGen gnomAD
CA383298104 rs376511525	8	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165342439 CA383298107	8	R>S		No	ClinGen gnomAD
rs376511525 CA6359574	8	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA383298114 rs1591422095	10	S>G		No	ClinGen Ensembl
rs529258076 CA230997985	10	S>R		No	ClinGen ExAC TOPMed gnomAD
rs775782443 CA6359576	11	S>L		No	ClinGen ExAC gnomAD
rs1333635637 CA383298133	13	G>D		No	ClinGen gnomAD
CA6359578 rs769130530	13	G>S		No	ClinGen ExAC gnomAD
rs1333635637 CA383298135	13	G>V		No	ClinGen gnomAD
CA383298140 rs1208118864	14	Q>R		No	ClinGen TOPMed
rs1241078346 CA383298151	16	K>E		No	ClinGen TOPMed
rs761383870 CA6359580	17	A>E		No	ClinGen ExAC TOPMed gnomAD
CA383298160 rs1285912902	17	A>T		No	ClinGen gnomAD
rs1227569326 CA383298167	18	A>G		No	ClinGen gnomAD
CA6359581 rs200866072	19	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6359582 rs750105840	21	R>H		No	ClinGen ExAC gnomAD
CA383298183 rs750105840	21	R>P		No	ClinGen ExAC gnomAD
CA383298189 rs1591422143	22	Y>C		No	ClinGen Ensembl
rs762467548 CA6359583	23	K>E		No	ClinGen ExAC TOPMed gnomAD
rs762467548 CA383298193	23	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1372652787 CA383298203	24	T>N		No	ClinGen TOPMed
rs1442518514 CA383298212	25	F>L		No	ClinGen gnomAD
TCGA novel	26	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6359585 rs766311561	26	M>V		No	ClinGen ExAC
CA6359586 rs557863994	27	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs755010364 CA6359587	28	D>H		No	ClinGen ExAC gnomAD
rs781258767 CA6359588	31	L>F		No	ClinGen ExAC gnomAD
CA6359590 rs757360309	35	T>N		No	ClinGen ExAC gnomAD
CA6359592 rs746123681	36	C>W		No	ClinGen ExAC gnomAD
rs1397863335 CA383298294	37	D>V		No	ClinGen gnomAD
CA383298290 rs1402947625	37	D>Y		No	ClinGen gnomAD
rs1336029276 CA383298331	42	L>F		No	ClinGen gnomAD
rs372858784 CA6359593	42	L>P		No	ClinGen ESP ExAC gnomAD
TCGA novel	43	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6359595 rs747360722	44	L>H		No	ClinGen ExAC gnomAD
CA6359596 rs577603862	49	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA383298376 rs577603862	49	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs777200593 CA383298387	51	L>P		No	ClinGen ExAC TOPMed gnomAD
rs777200593 CA6359597	51	L>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	52	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383298388 rs1201692728	52	V>I		No	ClinGen gnomAD
CA383298394 rs1273095631	53	V>L		No	ClinGen gnomAD
CA383298396 rs1273095631	53	V>M		No	ClinGen gnomAD
rs543456863 CA6359598	54	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA230997987 rs914086317	55	P>L		No	ClinGen Ensembl
CA383298410 rs1172414192	56	K>E		No	ClinGen gnomAD
CA230997988 rs565733482	57	P>L		No	ClinGen gnomAD
rs769372208 CA6359600	57	P>S		No	ClinGen ExAC TOPMed gnomAD
rs772560593 CA6359601	60	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA383298442 rs1464956558	61	C>Y		No	ClinGen TOPMed
TCGA novel	62	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759204876 CA383298776	63	G>D		No	ClinGen ExAC TOPMed gnomAD
rs759204876 CA6359627	63	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1244479251 CA383298786	64	S>F		No	ClinGen gnomAD
CA6359628 rs142822705	64	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383298803 rs1489685072	66	S>A		No	ClinGen gnomAD
rs775106374 CA6359629	66	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1489685072 CA383298801	66	S>P		No	ClinGen gnomAD
CA6359630 rs760705981	67	L>P		No	ClinGen ExAC TOPMed gnomAD
rs760705981 CA383298815	67	L>R		No	ClinGen ExAC TOPMed gnomAD
CA6359632 rs750583127	68	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763915488 CA6359631	68	R>W		No	ClinGen ExAC TOPMed gnomAD
CA383298825 rs1421568826	69	A>P		No	ClinGen gnomAD
rs1421568826 CA383298824	69	A>T		No	ClinGen gnomAD
rs528414259 CA6359633	70	Y>N		No	ClinGen 1000Genomes ExAC gnomAD
COSM3808788 CA231004328 rs1032523847	71	P>L	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs755156185 CA6359636	73	L>F		No	ClinGen ExAC TOPMed gnomAD
COSM428702 CA6359637 rs551250441	74	S>L	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6359639 rs756707076	76	I>V		No	ClinGen ExAC gnomAD
CA6359640 rs778142170	77	T>A		No	ClinGen ExAC gnomAD
rs778142170 CA383298907	77	T>P		No	ClinGen ExAC gnomAD
rs571141152 COSM301747 CA6359641	78	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6359642 rs770581739	78	R>H		No	ClinGen ExAC gnomAD
CA383298939 rs778519365	79	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA383298949 rs1267731010	80	P>L		No	ClinGen gnomAD
CA6359644 rs745548175	81	T>S		No	ClinGen ExAC gnomAD
CA383298961 rs1210641633	82	V>L		No	ClinGen gnomAD
rs760383221 CA6359647	85	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6359648 rs140261325	88	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6359649 rs140261325	88	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA383299035 rs1410727256	89	A>S		No	ClinGen gnomAD
CA383299037 rs1457487112	89	A>V		No	ClinGen gnomAD
CA6359650 rs143991757	91	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6359652 rs751604891	92	G>E		No	ClinGen ExAC gnomAD
CA6359655 rs149011396	93	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6359656 rs754337028	94	A>T		No	ClinGen ExAC TOPMed gnomAD
CA383299103 rs1408385784	96	A>T		No	ClinGen gnomAD
rs377586719 CA6359657	97	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754420707 CA6359658	102	V>D		No	ClinGen ExAC gnomAD
CA231004332 rs757674186	102	V>L		No	ClinGen Ensembl
CA231004333 rs377327995	103	T>I		No	ClinGen ESP
rs778608962 CA6359660	104	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA383299203 rs143748790	105	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6359661 rs745350289	105	A>T		No	ClinGen ExAC gnomAD
CA6359662 rs143748790	105	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs768357006 CA6359665	106	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776368491 CA6359666	107	S>A		No	ClinGen ExAC gnomAD
rs1046435151 CA231004334	107	S>F		No	ClinGen TOPMed
rs761776033 CA6359667	109	E>G		No	ClinGen ExAC gnomAD
rs769693860 CA6359668	110	A>T		No	ClinGen ExAC gnomAD
rs1432079880 CA383299279	113	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs774467685 CA6359669	113	G>V		No	ClinGen ExAC
rs767571038 CA6359671	114	E>D		No	ClinGen ExAC TOPMed gnomAD
rs867138901 CA231004335	114	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs201693114 CA6359673	116	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383299368 rs757889128	119	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6359677 rs765827355	120	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1219854917 CA383299390	121	S>A		No	ClinGen TOPMed gnomAD
CA231004336 rs964702027	122	E>G		No	ClinGen Ensembl
CA6359678 rs750893952	123	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1293664774 CA383299410	123	T>P		No	ClinGen gnomAD
CA383299426 rs1254690326	124	E>D		No	ClinGen TOPMed
rs1340163601 CA383299432	125	Q>E		No	ClinGen gnomAD
rs377376108 CA6359680	126	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6359681 rs746670608	127	T>A		No	ClinGen ExAC TOPMed gnomAD
rs370726265 CA6359682	127	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs200451881 CA6359685	128	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6359684 rs747920740	128	P>S		No	ClinGen ExAC gnomAD
CA6359686 rs773143342	129	R>*		No	ClinGen ExAC gnomAD
CA6359687 rs148147759	129	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375622525 CA6359689	130	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs375622525 CA383299475	130	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6359690 rs760848597	130	Q>R		No	ClinGen ExAC gnomAD
rs764391127 CA6359691	132	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA231004337 rs1044679108	132	K>R		No	ClinGen gnomAD
CA231004338 rs1030056334	133	P>H		No	ClinGen TOPMed gnomAD
CA6359692 rs777193995	134	R>C		No	ClinGen ExAC TOPMed gnomAD
CA383299518 rs777193995	134	R>G		No	ClinGen ExAC TOPMed gnomAD
rs762263980 CA383299520	134	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762263980 CA6359693	134	R>P		No	ClinGen ExAC TOPMed gnomAD
rs750915944 CA6359695	135	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376412759 CA6359694	135	R>W		No	ClinGen ESP ExAC gnomAD
CA383299529 rs1463787553	136	S>N		No	ClinGen TOPMed
CA6359696 rs200087278	137	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200087278 CA6359697	137	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383299549 rs1450847639	138	T>S		No	ClinGen TOPMed gnomAD
rs754642612 CA6359699	139	I>F		No	ClinGen ExAC TOPMed
rs754642612 CA383299551	139	I>V		No	ClinGen ExAC TOPMed
rs755920665 CA6359702	141	T>I		No	ClinGen ExAC gnomAD
CA231004339 rs935941057 COSM924910	142	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA6359704 rs749217439	143	L>M		No	ClinGen ExAC gnomAD
rs770871837 CA6359705	143	L>P		No	ClinGen ExAC gnomAD
CA6359707 rs150229722	154	K>R		No	ClinGen ESP ExAC gnomAD
CA383299804 rs535374331	160	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA231004340 rs535374331	160	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA383299801 rs1453182162	160	T>S		No	ClinGen TOPMed gnomAD
CA6359709 rs535374331	160	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs765727239 CA6359711	161	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM141362 CA6359710 rs762077742	161	P>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM139935 CA6359764 rs750219485	165	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750219485 CA383298484	165	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA383298502 rs1372439266	167	A>V		No	ClinGen gnomAD
rs1291783923 CA383298507	168	Q>R		No	ClinGen TOPMed
TCGA novel	169	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1253392845 CA383298522	171	G>R		No	ClinGen gnomAD
rs1354722340 CA383298530	172	L>F		No	ClinGen gnomAD
rs1253880262 CA383298537	173	T>N		No	ClinGen gnomAD
CA6359768 rs756228193	174	Q>R		No	ClinGen ExAC gnomAD
CA231004987 rs1046602249	177	V>L		No	ClinGen TOPMed
CA6359770 rs147038314	181	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456206651 CA383298613	184	R>C		No	ClinGen gnomAD
rs138172946 CA231004988	184	R>H		No	ClinGen ESP TOPMed
rs906881234 CA231004989	186	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs748965066 CA231004990	189	K>N		No	ClinGen Ensembl
CA383298655 rs1466038393	190	K>Q		No	ClinGen TOPMed
rs1035403449 CA231005915	192	V>F		No	ClinGen TOPMed gnomAD
rs1035403449 CA383298684	192	V>I		No	ClinGen TOPMed gnomAD
rs1344055088 CA383298717	197	Q>*		No	ClinGen gnomAD
CA6359786 rs764279065	198	E>G		No	ClinGen ExAC gnomAD
CA6359788 rs757561056	199	A>E		No	ClinGen ExAC gnomAD
CA6359787 rs753842629	199	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6359789 rs757561056	199	A>V		No	ClinGen ExAC gnomAD
rs758775483 CA6359791	202	K>N		No	ClinGen ExAC gnomAD
TCGA novel	202	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383298775 rs1226728075	205	G>D		No	ClinGen gnomAD
CA6359794 rs769021373	206	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780811381 CA6359795	206	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	208	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383298816 rs1259355048	208	K>N		No	ClinGen TOPMed
rs1262384486 CA383298854	210	N>K		No	ClinGen gnomAD
rs1482271729 CA383298867	211	S>F		No	ClinGen gnomAD
CA383298869 rs1210097290	212	I>L		No	ClinGen gnomAD
rs1210097290 CA383298871	212	I>V		No	ClinGen gnomAD
CA383298894 rs1480624720	213	P>R		No	ClinGen gnomAD
CA383298935 rs1175967028	216	E>D		No	ClinGen TOPMed gnomAD
COSM1718141 rs368541635 CA6359796	217	E>K	NS [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs769359240 CA6359797	218	I>F		No	ClinGen ExAC gnomAD
rs773009389 CA6359798	218	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1230415899 CA383299043	223	K>T		No	ClinGen TOPMed
CA6359802 rs774260627	224	M>I		No	ClinGen ExAC gnomAD
rs756048956 CA6359800	224	M>R		No	ClinGen ExAC TOPMed gnomAD
rs756048956 CA6359801	224	M>T		No	ClinGen ExAC TOPMed gnomAD
rs201994478 CA383299072	225	N>D		No	ClinGen ExAC TOPMed gnomAD
rs201994478 CA6359803	225	N>H		No	ClinGen ExAC TOPMed gnomAD
rs767346670 CA6359804	226	S>C		No	ClinGen ExAC TOPMed gnomAD
rs754017033 CA6359805	227	Q>*		No	ClinGen ExAC gnomAD
rs1408407725 CA383299125	228	A>D		No	ClinGen TOPMed gnomAD
CA383299119 rs1377609051	228	A>T		No	ClinGen gnomAD
CA6359806 rs761805459	229	Q>R		No	ClinGen ExAC gnomAD
rs1393692612 CA383299149	230	G>S		No	ClinGen TOPMed
TCGA novel	232	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765243831 CA6359807	233	Q>H		No	ClinGen ExAC gnomAD
CA6359808 rs144013495	235	E>D		No	ClinGen ESP ExAC gnomAD
rs1299215439 CA383299226	235	E>Q		No	ClinGen gnomAD
CA6359809 rs758587147	236	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	237	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415877702 CA383299267	238	Q>K		No	ClinGen gnomAD
rs1411449892 CA383299276	238	Q>R		No	ClinGen gnomAD
CA6359811 rs751855579	239	G>E		No	ClinGen ExAC gnomAD
rs1440000809 CA383299308	240	Q>H		No	ClinGen TOPMed
rs1353698941 CA383299303	240	Q>R		No	ClinGen TOPMed gnomAD
rs1231952671 CA383299344	243	L>F		No	ClinGen gnomAD
rs755573967 CA6359812	244	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1422364894 CA383299372	245	E>D		No	ClinGen gnomAD
CA6359813 rs781552045	245	E>K		No	ClinGen ExAC gnomAD
CA383299378 rs1191263553	246	A>S		No	ClinGen TOPMed
rs1467615835 CA383299392	247	Q>*		No	ClinGen TOPMed
CA6359814 rs748627966	248	E>V		No	ClinGen ExAC gnomAD
rs148675839 CA6359815	249	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148675839 CA231005919	249	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6359817 rs552240277	251	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA6359818 rs755171720 COSM924912	252	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs34520023 RCV000960202 CA6359819	252	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771834466 CA6359821	254	V>A		No	ClinGen ExAC gnomAD
rs775305099 CA6359822	255	P>R		No	ClinGen ExAC
rs1370278752 COSM687279 CA383299510	255	P>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1291074587 CA383299553	257	E>A		No	ClinGen gnomAD
CA6359823 rs760613123	257	E>D		No	ClinGen ExAC gnomAD
CA383299575 rs1212574262	258	M>I		No	ClinGen gnomAD
CA6359825 rs750479987	258	M>T		No	ClinGen ExAC gnomAD
rs765333697 CA6359824	258	M>V		No	ClinGen ExAC gnomAD
rs763218516 CA6359826	260	E>K		No	ClinGen ExAC gnomAD
CA383299623 rs751736337	262	P>A		No	ClinGen ExAC gnomAD
CA6359828 rs751736337	262	P>S		No	ClinGen ExAC gnomAD
CA383299637 rs909992913	263	D>A		No	ClinGen gnomAD
rs909992913 CA383299635	263	D>G		No	ClinGen gnomAD
CA231005920 rs909992913	263	D>V		No	ClinGen gnomAD
CA383299647 rs1440299415	264	P>A		No	ClinGen TOPMed
CA6359829 rs146199848	264	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753172358 CA6359833	266	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs568260616 CA6359834	270	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1448260641 CA383299776	271	P>R		No	ClinGen gnomAD
CA6359835 rs777477746	272	S>F		No	ClinGen ExAC gnomAD
CA383299798 rs1171304909	273	S>A		No	ClinGen TOPMed
rs376626609 CA6359837	273	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs376626609 CA383299803	273	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA383299815 rs1283027913	274	E>G		No	ClinGen TOPMed gnomAD
CA383299817 rs1283027913	274	E>V		No	ClinGen TOPMed gnomAD
rs771787101 CA6359840	275	P>L		No	ClinGen ExAC gnomAD
rs1217858966 CA383299842	276	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1462027778 CA383299852	277	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1328076510 CA383299867	279	S>R		No	ClinGen gnomAD

No associated diseases with Q9UMQ3

5 regional properties for Q9UMQ3

Type	Name	Position	InterPro Accession
conserved_site	Helix-turn-helix motif	162 - 187	IPR000047
domain	Homeobox domain	131 - 195	IPR001356
conserved_site	Homeobox, conserved site	166 - 189	IPR017970
domain	Homeobox domain, metazoa	155 - 166	IPR020479-1
domain	Homeobox domain, metazoa	170 - 189	IPR020479-2

Functions

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

7 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

6 GO annotations of molecular function

Name	Definition
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	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
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.
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.
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.

7 GO annotations of biological process

Name	Definition
cartilage condensation	The condensation of mesenchymal cells that have been committed to differentiate into chondrocytes.
myotube differentiation	The process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotube differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step). Then individual myotubes can fuse to form bigger myotubes and start to contract. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
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 muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle cell, a somatic cell located in skeletal muscle.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9DED6	BARX1B	Homeobox protein BarH-like 1b	Gallus gallus (Chicken)	PR
Q6RFL5	BSX	Brain-specific homeobox protein homolog	Gallus gallus (Chicken)	PR
Q9HBU1	BARX1	Homeobox protein BarH-like 1	Homo sapiens (Human)	PR
Q3C1V8	BSX	Brain-specific homeobox protein homolog	Homo sapiens (Human)	PR
Q9ER42	Barx1	Homeobox protein BarH-like 1	Mus musculus (Mouse)	PR
Q810B3	Bsx	Brain-specific homeobox protein homolog	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MHCHAELRLS	SPGQLKAARR	RYKTFMIDEI	LSKETCDYFE	KLSLYSVCPS	LVVRPKPLHS
70	80	90	100	110	120
CTGSPSLRAY	PLLSVITRQP	TVISHLVPAT	PGIAQALSCH	QVTEAVSAEA	PGGEALASSE
130	140	150	160	170	180
SETEQPTPRQ	KKPRRSRTIF	TELQLMGLEK	KFQKQKYLST	PDRLDLAQSL	GLTQLQVKTW
190	200	210	220	230	240
YQNRRMKWKK	MVLKGGQEAP	TKPKGRPKKN	SIPTSEEIEA	EEKMNSQAQG	QEQLEPSQGQ
250	260	270
EELCEAQEPK	ARDVPLEMAE	PPDPPQELPI	PSSEPPPLS