AiPD: Autoinhibited Protein Database

O95983

Gene name	MBD3
Protein name	Methyl-CpG-binding domain protein 3
Names	Methyl-CpG-binding protein MBD3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:53615
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

47-116 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

47-116 (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

6 structures for O95983

Entry ID	Method	Resolution	Chain	Position	Source
2MB7	NMR	-	A	1-70	PDB
6CC8	X-ray	195 A	A/B	1-71	PDB
6CCG	X-ray	190 A	A/B	1-71	PDB
6CEU	X-ray	200 A	A/B	1-71	PDB
6CEV	X-ray	200 A	A/B	1-71	PDB
AF-O95983-F1	Predicted				AlphaFoldDB

254 variants for O95983

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359072618 CA403045104	2	E>Q		No	ClinGen gnomAD
CA9049360 rs775984092	3	R>W		No	ClinGen ExAC gnomAD
CA403045074 rs1568279737	6	W>G		No	ClinGen Ensembl
rs772628281 CA9049359	7	E>D		No	ClinGen ExAC TOPMed gnomAD
CA403045054 rs139676994	8	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs571272933 CA9049358	8	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs199918527 CA403045052	9	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9049355 rs374313990	9	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9049356 rs199918527	9	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9049354 rs567639543	10	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1023958430 CA304087152	11	L>F		No	ClinGen TOPMed gnomAD
rs1238222257 CA403045034	12	P>L		No	ClinGen TOPMed gnomAD
CA9049352 rs752693057	12	P>S		No	ClinGen ExAC TOPMed gnomAD
rs752693057 CA403045038	12	P>T		No	ClinGen ExAC TOPMed gnomAD
rs751371257 CA9049349	13	Q>H		No	ClinGen ExAC gnomAD
rs1280207737 CA403045029	13	Q>R		No	ClinGen gnomAD
CA403045025 rs1357878340	14	G>S		No	ClinGen gnomAD
rs1435669292 CA403045005	16	E>D		No	ClinGen TOPMed gnomAD
CA403044997 rs1362398597	17	R>S		No	ClinGen TOPMed
CA403044979 rs1377627262	20	V>L		No	ClinGen gnomAD
rs762549756 CA9049347	21	P>S		No	ClinGen ExAC gnomAD
CA403044964 rs1408149415	22	R>S		No	ClinGen TOPMed gnomAD
rs749923690 CA403044960	23	R>K		No	ClinGen ExAC TOPMed gnomAD
rs749923690 CA9049346	23	R>M		No	ClinGen ExAC TOPMed gnomAD
rs1449867449 CA403044957	23	R>S		No	ClinGen TOPMed
CA9049342 rs772718427	27	S>L		No	ClinGen ExAC gnomAD
CA304087138 rs146354860	28	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1310761152 CA403044932	28	A>S		No	ClinGen TOPMed
CA9049341 rs146354860	28	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1225474901 CA403044928	29	G>D		No	ClinGen gnomAD
rs774611795 CA9049340	29	G>S		No	ClinGen ExAC TOPMed gnomAD
rs771155628 CA9049339	30	H>R		No	ClinGen ExAC gnomAD
CA9049337 rs773329407 CA403044906	32	D>E		No	ClinGen ExAC gnomAD
CA9049338 rs749523001	32	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1032054310 CA304087131	33	V>D		No	ClinGen TOPMed
rs1160694529 CA403044880	36	Y>C		No	ClinGen gnomAD
CA403044882 rs1345346253	36	Y>D		No	ClinGen gnomAD
rs1345346253 CA403044883	36	Y>H		No	ClinGen gnomAD
CA9049334 rs769931956	37	S>T		No	ClinGen ExAC gnomAD
rs756998738 CA9049304	38	P>L		No	ClinGen ExAC gnomAD
rs1248470448 CA403043901	39	S>N		No	ClinGen gnomAD
CA403043895 rs1195796674	40	G>R		No	ClinGen TOPMed gnomAD
CA403043894 rs1195796674	40	G>W		No	ClinGen TOPMed gnomAD
rs753369459 CA9049303	41	K>R		No	ClinGen ExAC gnomAD
rs992005511 CA304084868	43	F>C		No	ClinGen Ensembl
CA403043866 rs1346745423	44	R>C		No	ClinGen gnomAD
TCGA novel	44	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304084867 rs956628089	47	P>S		No	ClinGen TOPMed
CA304084865 rs868396759	49	L>R		No	ClinGen Ensembl
CA9049301 rs755530184	50	A>G		No	ClinGen ExAC gnomAD
CA304084863 rs755530184	50	A>V		No	ClinGen ExAC gnomAD
rs1000530401 CA304084861	51	R>C		No	ClinGen gnomAD
CA9049299 rs766918901	53	L>P		No	ClinGen ExAC gnomAD
rs1174540736 CA403043807	54	G>R		No	ClinGen gnomAD
rs765405628 CA9049296	55	G>D		No	ClinGen ExAC gnomAD
TCGA novel	55	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403043793 rs1420213030	56	S>C		No	ClinGen gnomAD
rs1342533242 CA403043796	56	S>T		No	ClinGen TOPMed
rs1599345262 CA403043786	57	M>I		No	ClinGen Ensembl
CA403043789 rs1186286575	57	M>K		No	ClinGen gnomAD
rs776675296 CA403043790	57	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1186286575 CA403043788	57	M>T		No	ClinGen gnomAD
rs776675296 CA9049294	57	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1485570265 CA403043782	58	D>N		No	ClinGen gnomAD
CA304084860 rs905749256	58	D>V		No	ClinGen TOPMed gnomAD
rs12460525 CA403043775	59	L>V		No	ClinGen ExAC TOPMed gnomAD
CA304084859 rs891263141	60	S>R		No	ClinGen Ensembl
rs1279896089 CA403043759	61	T>I		No	ClinGen TOPMed
CA403043736 rs1291417685	64	F>L		No	ClinGen gnomAD
CA403043731 rs1414060816	65	R>H		No	ClinGen gnomAD
rs369219065 CA403043724	66	T>M		No	ClinGen ESP ExAC gnomAD
rs369219065 CA9049288	66	T>R		No	ClinGen ESP ExAC gnomAD
rs1314476886 CA403043707	69	M>L		No	ClinGen gnomAD
CA9049287 rs778889439	71	M>I		No	ClinGen ExAC gnomAD
CA403043661 rs777419010	73	K>N		No	ClinGen ExAC TOPMed gnomAD
rs562319591 CA9049285	73	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403043640 rs1163480179	74	M>I		No	ClinGen gnomAD
rs1478551825 CA403043618	75	N>K		No	ClinGen TOPMed
TCGA novel	75	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9049282 rs755513010	76	K>E		No	ClinGen ExAC gnomAD
CA9049281 rs752269261	76	K>R		No	ClinGen ExAC gnomAD
rs1193433069 CA403043579	78	R>C		No	ClinGen TOPMed
CA9049279 rs138922555	79	Q>R		No	ClinGen ESP ExAC
rs1260547532 CA403043543	80	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1260547532 CA403043541	80	R>P		No	ClinGen gnomAD
rs750757721 CA9049278	82	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9049277 rs765645270	82	R>P		No	ClinGen ExAC gnomAD
rs941353356 CA304084854	83	Y>C		No	ClinGen TOPMed
rs1335332991 CA403043475	84	D>E		No	ClinGen TOPMed gnomAD
CA9049274 rs764313106	84	D>N		No	ClinGen ExAC gnomAD
rs1294910379 CA403043466	85	S>A		No	ClinGen gnomAD
CA403043458 rs1224919713	85	S>F		No	ClinGen TOPMed gnomAD
rs1224919713 CA403043463	85	S>Y		No	ClinGen TOPMed gnomAD
CA403043403 rs1434028918	89	V>L		No	ClinGen TOPMed
rs1323902098 CA403043384	90	K>T		No	ClinGen gnomAD
CA9049235 rs751714967	91	G>S		No	ClinGen ExAC gnomAD
rs141837928 CA304084783	94	D>N		No	ClinGen ESP TOPMed gnomAD
rs1156358847 CA403043166	97	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1469148704 CA403043160	98	A>S		No	ClinGen TOPMed
rs1399658369 CA403043152	98	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	101	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9049228 rs147057571	101	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147057571 CA403043121	101	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA403043103 rs1486133909	102	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	102	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9049226 rs373052574	103	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	104	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1285024846 CA403043009	108	F>L		No	ClinGen TOPMed gnomAD
rs777996631 CA9049223	110	Q>K		No	ClinGen ExAC gnomAD
rs1568276044 CA403042957	111	P>L		No	ClinGen Ensembl
CA403042904 rs1234244334	115	I>T		No	ClinGen gnomAD
rs755286081 CA9049219	117	N>K		No	ClinGen ExAC gnomAD
CA9049220 rs781428165	117	N>S		No	ClinGen ExAC TOPMed
CA304084782 rs141610896	120	S>N		No	ClinGen ESP gnomAD
rs1321894827 CA403042829	120	S>R		No	ClinGen gnomAD
CA304084781 rs917325754	121	N>S		No	ClinGen TOPMed gnomAD
CA304084780 rs1045209798	122	K>Q		No	ClinGen TOPMed gnomAD
rs758400542 CA9049216	122	K>R		No	ClinGen ExAC gnomAD
TCGA novel	126	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403042716 rs1272865063	127	P>L		No	ClinGen TOPMed
CA403042723 rs1475203675	127	P>S		No	ClinGen gnomAD
rs1436595992 CA403042676	130	A>P		No	ClinGen TOPMed
TCGA novel	131	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9049208 rs771638989	132	D>A		No	ClinGen ExAC gnomAD
rs201243195 CA9049207	134	P>L		No	ClinGen 1000Genomes ExAC
CA9049205 rs770227083	135	R>C		No	ClinGen ExAC gnomAD
rs1406678915 CA403042589	135	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	136	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	138	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403041652 rs1314159055	140	E>K		No	ClinGen TOPMed
rs753783928 CA9049178	145	G>S		No	ClinGen ExAC TOPMed gnomAD
CA403041566 rs1467683748	145	G>V		No	ClinGen gnomAD
rs755847197 CA9049176	148	A>T		No	ClinGen ExAC TOPMed gnomAD
CA403041509 rs200289849	149	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9049173 rs370132757	150	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9049172 rs367828893	151	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777218101 CA9049169	156	V>L		No	ClinGen ExAC gnomAD
rs1599342773 CA403041381	159	M>I		No	ClinGen Ensembl
CA9049167 rs761076443	159	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9049166 rs776033453	160	D>E		No	ClinGen ExAC TOPMed gnomAD
CA403041355 rs1291236816	161	L>F		No	ClinGen gnomAD
rs746133786 CA403041317	163	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1335158734 CA403041303	164	G>A		No	ClinGen gnomAD
rs749385144 CA9049161	166	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1458238476 CA403041273	166	Q>L		No	ClinGen gnomAD
rs1370314999 CA403040965	167	G>E		No	ClinGen gnomAD
rs1599341303 CA403040959	168	V>G		No	ClinGen Ensembl
CA304083754 rs796723516	168	V>L		No	ClinGen Ensembl
rs1431248256 CA403040943	171	G>D		No	ClinGen gnomAD
CA9049122 rs776377808	173	T>M		No	ClinGen ExAC gnomAD
CA403040925 rs1179529706	174	D>G		No	ClinGen gnomAD
CA9049121 rs143527255	174	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs746746193 CA9049120	175	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1252272706 CA403040910	176	T>M	Variant assessed as Somatic; 5.312e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA403040892 rs1157020187	179	S>L		No	ClinGen TOPMed
rs201867850 CA9049115	182	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403040870 rs1599341220	183	S>N		No	ClinGen Ensembl
CA9049113 rs145615887	184	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9049111 rs751849169	187	T>A		No	ClinGen ExAC gnomAD
rs766827335 CA304083741	187	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9049110 rs766827335	187	T>S		No	ClinGen ExAC TOPMed gnomAD
CA403040825 rs1332963393	190	M>I		No	ClinGen gnomAD
rs763160109 CA9049109	190	M>T		No	ClinGen ExAC TOPMed gnomAD
rs994504784 CA304083739	192	I>V		No	ClinGen TOPMed gnomAD
CA403040805 rs1426650915	193	T>M	Variant assessed as Somatic; 4.701e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	194	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765462589 CA9049107	196	L>P		No	ClinGen ExAC gnomAD
rs964115357 CA304083733	197	S>L		No	ClinGen gnomAD
CA403040756 rs1599341148	198	A>V		No	ClinGen Ensembl
CA403040752 rs139802061	199	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs139802061 CA9049102	199	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs745670785 CA9049100	200	V>M		No	ClinGen ExAC TOPMed gnomAD
rs770739351 CA9049098	203	N>K		No	ClinGen ExAC gnomAD
rs748716757 CA9049097	204	P>S		No	ClinGen ExAC gnomAD
CA9049095 rs755428700	205	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9049093 rs780546386	206	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	209	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9049090 rs765411537	210	T>A		No	ClinGen ExAC gnomAD
rs1389237167 CA403040616	210	T>I		No	ClinGen gnomAD
rs757544695 CA9049089	211	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757544695 CA403040607	211	T>R		No	ClinGen ExAC TOPMed gnomAD
CA403040518 rs1473210070	219	M>R		No	ClinGen gnomAD
TCGA novel	221	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767584879 CA9049084	222	D>N		No	ClinGen ExAC TOPMed gnomAD
CA403040477 rs1568274367	223	E>A		No	ClinGen Ensembl
CA403040480 rs1269362705	223	E>K		No	ClinGen TOPMed gnomAD
rs147848953 CA304083685	226	R>K		No	ClinGen Ensembl
rs191105889 CA9049055	229	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA304082266 rs1014357355	230	E>D		No	ClinGen TOPMed
CA403039401 rs1599338629	231	L>R		No	ClinGen Ensembl
CA9049053 rs771267951	232	V>L		No	ClinGen ExAC gnomAD
rs749635902 CA9049052	234	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA9049050 rs756330991	235	V>A		No	ClinGen ExAC gnomAD
CA9049051 rs778015765	235	V>L		No	ClinGen ExAC TOPMed gnomAD
CA403039260 rs1301951242	236	R>Q		No	ClinGen TOPMed gnomAD
CA9049049 rs752801901	236	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs375776843 CA304082262	237	K>N		No	ClinGen ESP TOPMed
rs576246477 CA403039208	238	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9049048 rs576246477	238	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA403039231 rs1306115519	238	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751478990 CA9049046	240	E>G		No	ClinGen ExAC gnomAD
rs1277224450 CA403039187	240	E>K		No	ClinGen TOPMed
rs766243731 CA9049045	242	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9049043 rs750220661	245	A>G		No	ClinGen ExAC gnomAD
TCGA novel	245	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776111481 CA9049040	246	D>E		No	ClinGen ExAC TOPMed gnomAD
CA403039068 rs548368623	246	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9049041 rs548368623	246	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1478280577 CA403039020	247	M>I		No	ClinGen TOPMed
rs768085777 CA9049039	247	M>V		No	ClinGen ExAC gnomAD
CA9049038 rs760189739	249	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1018898524 CA304082237	249	A>V		No	ClinGen Ensembl
rs1402494784 CA403038969	250	H>R		No	ClinGen TOPMed
CA403038946 rs1388125316	251	V>G		No	ClinGen TOPMed
rs749633456 CA9049035	252	E>G		No	ClinGen ExAC gnomAD
rs895867400 CA304082232	252	E>K		No	ClinGen TOPMed
CA9049033 rs748449560	256	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9049032 rs748449560	256	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9049031 rs139149038	256	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA403038840 CA304082220 rs755053188	257	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA9049029 rs751714712	258	G>R		No	ClinGen ExAC TOPMed gnomAD
rs756573478 CA9049028	260	A>V		No	ClinGen ExAC TOPMed gnomAD
CA403038777 rs1468048577	261	P>L		No	ClinGen TOPMed gnomAD
CA9049026 rs370367323	263	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA403038707 rs761597941	265	A>P		No	ClinGen ExAC TOPMed gnomAD
rs761597941 CA9049024	265	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1056083253 CA304082179	267	A>P		No	ClinGen TOPMed gnomAD
CA304082181 rs1056083253	267	A>T	Variant assessed as Somatic; 6.412e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	267	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9049020 rs373012253	270	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA403038595 rs532173134	271	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA9049018 rs532173134	271	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1322010522 CA9049014	272	E>D		No	ClinGen TOPMed
CA9049016 rs199963136	272	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769034256 CA403038439 CA9049010	274	D>E		No	ClinGen ExAC gnomAD
CA9049011 rs572817144	274	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs200914699 CA9049006	275	E>D		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA9049008 rs148809364	275	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA403038436 rs148809364	275	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA403038418 rs1285562992	275	E>V		No	ClinGen TOPMed
rs542843913 CA9049004	276	E>D		No	ClinGen 1000Genomes ExAC TOPMed
rs1568272990 CA403038272	281	E>*		No	ClinGen Ensembl
rs1458223906 CA403038263	281	E>A		No	ClinGen gnomAD
CA403038192 rs369581342	283	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9048993 rs369581342	283	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA403038165 rs1166449379	284	P>L		No	ClinGen TOPMed gnomAD
rs375535643 CA9048991	285	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs752238542 CA9048989	286	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs975358260 CA304082052	288	M>L		No	ClinGen gnomAD
CA403038004 rs1481435336	289	E>G		No	ClinGen gnomAD
rs759092422 CA9048987	290	H>Y		No	ClinGen ExAC gnomAD
CA9048985 rs765870017	291	V>I		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with O95983

3 regional properties for O95983

Type	Name	Position	InterPro Accession
domain	Methyl-CpG DNA binding	1 - 76	IPR001739
domain	Methyl-CpG binding protein 2/3, C-terminal domain	153 - 243	IPR025884
domain	Methyl-CpG-binding domain protein 2/3, p55-binding region	79 - 148	IPR032343

Functions

		Description
EC Number
Subcellular Localization	Nucleus Chromosome	Nuclear, in discrete foci Detected on chromatin, at promoter regions of active genes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
heterochromatin	A compact and highly condensed form of chromatin that is refractory to transcription.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
NuRD complex	An approximately 2 MDa multi-subunit complex that exhibits ATP-dependent chromatin remodeling activity in addition to histone deacetylase (HDAC) activity, and has been shown to establish transcriptional repression of a number of target genes in vertebrates, invertebrates and fungi. Amongst its subunits, the NuRD complex contains histone deacetylases, histone binding proteins and Mi-2-like proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

3 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).
methyl-CpG binding	Binding to a methylated cytosine/guanine dinucleotide.

18 GO annotations of biological process

Name	Definition
aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
chromatin remodeling	A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
DNA methylation-dependent heterochromatin assembly	Repression of transcription by methylation of DNA, leading to the formation of heterochromatin.
embryonic organ development	Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
histone acetylation	The modification of a histone by the addition of an acetyl group.
histone deacetylation	The modification of histones by removal of acetyl groups.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
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 DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
regulation of cell fate specification	Any process that mediates the adoption of a specific fate by a cell.
regulation of DNA methylation	Any process that modulates the frequency, rate or extent of the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine.
regulation of stem cell differentiation	Any process that modulates the frequency, rate or extent of stem cell differentiation.
response to estradiol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
response to nutrient levels	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.
tissue development	The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Z2D7	Mbd4	Methyl-CpG-binding domain protein 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MERKRWECPA	LPQGWEREEV	PRRSGLSAGH	RDVFYYSPSG	KKFRSKPQLA	RYLGGSMDLS
70	80	90	100	110	120
TFDFRTGKML	MSKMNKSRQR	VRYDSSNQVK	GKPDLNTALP	VRQTASIFKQ	PVTKITNHPS
130	140	150	160	170	180
NKVKSDPQKA	VDQPRQLFWE	KKLSGLNAFD	IAEELVKTMD	LPKGLQGVGP	GCTDETLLSA
190	200	210	220	230	240
IASALHTSTM	PITGQLSAAV	EKNPGVWLNT	TQPLCKAFMV	TDEDIRKQEE	LVQQVRKRLE
250	260	270	280	290
EALMADMLAH	VEELARDGEA	PLDKACAEDD	DEEDEEEEEE	EPDPDPEMEH	V