AiPD: Autoinhibited Protein Database

Q02078

Gene name	MEF2A (MEF2)
Protein name	Myocyte-specific enhancer factor 2A
Names	Serum response factor-like protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4205
EC number
Protein Class

Descriptions

MEF2 factors regulate transcription during cardiac and skeletal myogenesis. Phosphorylation by p38 at Thr 293 and Thr 300 within a linker region, and Ser 387 within transcription repressor domain enhances MEF2C activity allosterically, which implicates potential mechanism of autoinhibition.

Autoinhibitory domains (AIDs)

298-383 (Linker) SS

Target domain	1-61 (Transcription factor, MADS-box)
Relief mechanism	PTM
Assay

AID

298-383 (Linker)

Target domain

1-61 (Transcription factor, MADS-box)

Relief mechanism

PTM (Phosphorylation of T80 in the MADS/MEF2 domain)

Assay

Accessory elements

No accessory elements

References

Han J et al. (1997) "Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation", Nature, 386, 296-9

Al Madhoun AS et al. (2011) "Skeletal myosin light chain kinase regulates skeletal myogenesis by phosphorylation of MEF2C", The EMBO journal, 30, 2477-89

Autoinhibited structure

Activated structure

9 structures for Q02078

Entry ID	Method	Resolution	Chain	Position	Source
1C7U	NMR	-	A/B	2-86	PDB
1EGW	X-ray	150 A	A/B/C/D	2-78	PDB
1LEW	X-ray	230 A	B	269-280	PDB
3KOV	X-ray	290 A	A/B/I/J	2-91	PDB
3MU6	X-ray	243 A	A/B/C/D	2-70	PDB
3P57	X-ray	219 A	A/B/C/D/I/J	2-91	PDB
6BYY	X-ray	230 A			PDB
6BZ1	X-ray	297 A			PDB
AF-Q02078-F1	Predicted				AlphaFoldDB

475 variants for Q02078

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV003390664 CA120017 rs121918530 RCV000420077 VAR_038407 RCV000009506	263	N>S	Coronary artery disease/myocardial infarction [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_038408 RCV000009505 rs121918529 CA120015	279	P>L	Coronary artery disease/myocardial infarction [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_038409 rs121918531 RCV000009507 CA120019	283	G>D	Coronary artery disease/myocardial infarction [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs3138597 RCV003454973 RCV000959247	429	Q>missing	Coronary artery disease, autosomal dominant, 1 [ClinVar]	Yes	ClinVar dbSNP
rs1317833270	3	R>Q		No	gnomAD
rs1272954718	9	T>R		No	gnomAD
rs755726096	10	R>C		No	ExAC gnomAD
rs1206225537	10	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1206225537	10	R>L		No	TOPMed gnomAD
rs755726096	10	R>S		No	ExAC gnomAD
rs1376663731	12	M>I		No	Ensembl
rs766169740	12	M>L		No	ExAC gnomAD
rs868326714	14	E>K		No	Ensembl
rs753575051	15	R>M		No	ExAC gnomAD
rs1005984466	17	R>*		No	Ensembl
rs754720431	17	R>L		No	ExAC TOPMed gnomAD
rs754720431	17	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2153479402	24	R>G		No	Ensembl
rs1350119833	28	L>F		No	gnomAD
rs2045835798	29	M>I		No	Ensembl
rs760337010	29	M>L		No	ExAC TOPMed gnomAD
rs1291551374	33	Y>C		No	TOPMed
rs1434408562	35	L>F		No	gnomAD
rs2153479509	38	L>P		No	1000Genomes
rs1328677553	40	D>E		No	gnomAD
rs1226726746 RCV001354903	41	C>*		No	ClinVar dbSNP
rs1226726746	41	C>*		No	TOPMed gnomAD
rs2045840917	44	A>V		No	TOPMed
rs368747387	48	F>V		No	ESP ExAC TOPMed gnomAD
rs1226882901	49	N>S		No	TOPMed gnomAD
rs754843909	50	S>T		No	ExAC gnomAD
rs1343245101	52	N>D		No	gnomAD
rs2045844594	53	K>R		No	TOPMed gnomAD
rs764920921	55	F>V		No	ExAC gnomAD
rs1207528298	56	Q>E		No	gnomAD
rs2045848123	60	T>I		No	TOPMed
rs1193702038	61	D>H		No	TOPMed gnomAD
rs1193702038	61	D>N		No	TOPMed gnomAD
rs2045849231	61	D>V		No	TOPMed
rs781433971	62	M>T		No	ExAC gnomAD
rs746001869	63	D>G		No	ExAC gnomAD
rs1367123469	64	K>T		No	Ensembl
rs938477439	70	T>R		No	TOPMed
rs2153479814	72	Y>H		No	Ensembl
COSM3667693 rs1456819815	73	N>S	liver [Cosmic]	No	cosmic curated TOPMed gnomAD
rs2045855834	74	E>D		No	TOPMed gnomAD
rs2045856958	78	S>G		No	TOPMed
rs1277082906	80	T>N		No	gnomAD
rs553844161	82	S>L		No	1000Genomes ExAC TOPMed gnomAD
rs779104807	85	V>A		No	ExAC gnomAD
rs1167885533	87	A>S		No	TOPMed
rs1167885533	87	A>T		No	TOPMed
rs762881136	89	N>K		No	ExAC gnomAD
rs775203708	89	N>S		No	ExAC gnomAD
rs377723529	91	K>R		No	ESP
rs763955639	92	E>K		No	ExAC TOPMed gnomAD
rs761799644	96	C>Y		No	ExAC TOPMed gnomAD
rs1184781770	97	D>N		No	TOPMed gnomAD
rs976656919	98	S>T		No	TOPMed
rs1374499801	99	P>L		No	TOPMed gnomAD
rs753805725	99	P>S		No	ExAC gnomAD
rs1462190719	101	P>S		No	gnomAD
rs1452466090	103	T>I		No	TOPMed gnomAD
rs1452466090	103	T>S		No	TOPMed gnomAD
rs755075913	104	S>*		No	ExAC gnomAD
rs201205600	105	Y>C		No	ExAC TOPMed gnomAD
rs1337363619	105	Y>H		No	gnomAD
rs2153630039	106	V>G		No	Ensembl
rs2153630047	108	T>A		No	Ensembl
rs2050876501	108	T>I		No	TOPMed
rs2050877041	109	P>S		No	Ensembl
rs1326741833	110	H>L		No	TOPMed gnomAD
rs1326741833	110	H>P		No	TOPMed gnomAD
rs1326741833	110	H>R		No	TOPMed gnomAD
rs75248193	110	H>Y		No	ExAC gnomAD
rs778063900	111	T>A		No	ExAC gnomAD
rs1232446318	111	T>I		No	TOPMed
rs2050881643	112	E>K		No	gnomAD
rs1325818727	113	E>D		No	TOPMed gnomAD
rs74751981	114	K>N		No	Ensembl
rs932129900	115	Y>C		No	TOPMed gnomAD
rs1273642700	123	D>A		No	TOPMed gnomAD
rs1273642700	123	D>G		No	TOPMed gnomAD
rs1432928058	124	N>S		No	gnomAD
rs1346327714	126	M>I		No	TOPMed gnomAD
rs1198270794	126	M>R		No	TOPMed gnomAD
rs1198270794	126	M>T		No	TOPMed gnomAD
rs75705863	127	R>Q		No	ExAC TOPMed gnomAD
COSM1257576 rs376743625	127	R>W	oesophagus [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1215628266	129	H>Q		No	TOPMed gnomAD
rs1176514813	129	H>R		No	gnomAD
rs769315281 COSM3706467	130	K>N	liver [Cosmic]	No	cosmic curated ExAC gnomAD
rs370659482	132	A>T		No	ESP ExAC TOPMed gnomAD
rs1244309168	133	P>S		No	TOPMed gnomAD
rs1244309168	133	P>T		No	TOPMed gnomAD
rs755601081	134	G>A		No	ExAC TOPMed gnomAD
rs755601081	134	G>V		No	ExAC TOPMed gnomAD
rs748952164	137	P>S		No	ExAC TOPMed gnomAD
rs768364064	138	Q>H		No	ExAC gnomAD
rs2153643619	139	N>D		No	Ensembl
rs774135500	140	F>L		No	ExAC TOPMed gnomAD
rs1470745947	140	F>S		No	TOPMed gnomAD
rs1479398678	142	M>V		No	TOPMed gnomAD
rs1427865641	143	S>C		No	TOPMed gnomAD
rs1165776215	145	T>A		No	TOPMed gnomAD
rs1165776215	145	T>P		No	TOPMed gnomAD
rs748024361	147	P>T		No	ExAC gnomAD
rs2051499353	148	V>M		No	Ensembl
rs1380907499	150	S>I		No	gnomAD
rs2051500614	151	P>L		No	TOPMed
rs1443951476	153	A>T		No	gnomAD
rs374058145	156	Y>C		No	ESP ExAC TOPMed gnomAD
rs374058145	156	Y>F		No	ESP ExAC TOPMed gnomAD
rs978256971	157	T>A		No	TOPMed
rs1255530789	157	T>I		No	TOPMed gnomAD
rs1198858305	159	P>A		No	TOPMed
rs2051505627	160	G>A		No	Ensembl
rs1391705773	161	S>G		No	TOPMed gnomAD
rs2051507511	161	S>N		No	gnomAD
rs765267108	162	S>A		No	ExAC TOPMed gnomAD
rs2051508769	163	L>V		No	TOPMed gnomAD
rs764364084	164	V>A		No	ExAC gnomAD
rs554077925	164	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs554077925	164	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs2051513864	166	P>Q		No	TOPMed
rs1327564911	166	P>S		No	TOPMed gnomAD
rs2051514573	167	S>C		No	Ensembl
rs1382046463	168	L>W		No	gnomAD
rs751746032	170	A>D		No	ExAC gnomAD
rs2051516643	172	S>A		No	TOPMed
rs189538320	173	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1360645449	173	T>M		No	TOPMed gnomAD
rs1271934645	177	S>L		No	gnomAD
rs1328517031	177	S>T		No	gnomAD
rs750924361	178	S>G		No	ExAC TOPMed gnomAD
rs756576129	179	M>L		No	ExAC TOPMed gnomAD
rs756576129	179	M>V		No	ExAC TOPMed gnomAD
rs779722671	180	L>R		No	ExAC TOPMed gnomAD
rs1181704886	181	S>F		No	gnomAD
rs754532977	186	T>P		No	ExAC gnomAD
rs1406276041	187	L>S		No	TOPMed
rs772196260	187	L>V		No	TOPMed gnomAD
rs370083199	188	H>L		No	ESP gnomAD
rs1455405534	190	N>H		No	TOPMed
rs2051534278	190	N>I		No	Ensembl
rs2051535001	191	V>M		No	Ensembl
rs2051535972	192	S>T		No	TOPMed
rs890163554	195	A>T		No	TOPMed gnomAD
rs771790695	196	P>T		No	ExAC gnomAD
rs1339326152	197	Q>K		No	gnomAD
rs373867888	200	P>T		No	ESP ExAC TOPMed gnomAD
rs1268801908	201	S>N		No	gnomAD
rs1364444037	202	T>I		No	TOPMed gnomAD
rs776542455	204	N>S		No	ExAC gnomAD
rs761954497	208	M>T		No	ExAC gnomAD
rs199820037	210	S>N		No	ESP ExAC TOPMed gnomAD
rs773300399	211	T>A		No	ExAC TOPMed gnomAD
rs773300399	211	T>P		No	ExAC TOPMed gnomAD
rs1376719387	212	T>A		No	Ensembl
rs1410768695	213	D>E		No	gnomAD
rs1567406543	213	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1420767777	214	L>V		No	gnomAD
rs2051778219	215	T>A		No	1000Genomes TOPMed gnomAD
rs2051778970	215	T>I		No	Ensembl
rs761164074	218	N>D		No	ExAC TOPMed gnomAD
rs761164074	218	N>H		No	ExAC TOPMed gnomAD
rs766830478	218	N>S		No	ExAC TOPMed gnomAD
rs754420352	219	G>E		No	ExAC TOPMed gnomAD
rs754420352	219	G>V		No	ExAC TOPMed gnomAD
rs377207410	220	A>S		No	Ensembl
rs2051784633	220	A>V		No	TOPMed
rs1597067730	221	G>A		No	Ensembl
rs2051785378	221	G>R		No	Ensembl
rs752197525	223	S>N		No	ExAC TOPMed gnomAD
rs757836374	224	P>R		No	ExAC gnomAD
rs2051788351	224	P>T		No	Ensembl
COSM1300953 COSM1300952 COSM1300954 rs1338970568	226	G>E	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs763844927	226	G>R		No	ExAC TOPMed gnomAD
rs1020821508	228	G>E		No	Ensembl
rs1314741371	229	F>C		No	Ensembl
rs1252757538	230	V>G		No	gnomAD
rs2055112442	230	V>L		No	TOPMed
rs2055113927	231	N>H		No	gnomAD
rs1458236440	231	N>S		No	gnomAD
rs2153715505	232	S>P		No	Ensembl
rs1021756347	233	R>G		No	TOPMed gnomAD
rs751251460	235	S>Y		No	ExAC gnomAD
rs966621137	237	N>D		No	Ensembl
rs966621137	237	N>H		No	Ensembl
rs1391618912	238	L>F		No	TOPMed gnomAD
rs756832092	239	I>M		No	ExAC TOPMed gnomAD
rs1368740492	239	I>S		No	TOPMed gnomAD
rs1368740492	239	I>T		No	TOPMed gnomAD
rs767312497	241	A>V		No	ExAC TOPMed gnomAD
rs2055122002	242	T>A		No	gnomAD
COSM3401580 rs967480004 COSM3401581 COSM3401579	243	G>D	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs750276293	245	N>D		No	ExAC TOPMed gnomAD
rs750276293	245	N>H		No	ExAC TOPMed gnomAD
rs755896449	246	S>G		No	ExAC TOPMed gnomAD
rs780077974	246	S>R		No	ExAC gnomAD
rs189526729	248	G>D		No	1000Genomes ExAC TOPMed gnomAD
rs1313179108	249	K>E		No	gnomAD
rs758530238	250	V>G		No	ExAC gnomAD
rs2055130350	251	M>I		No	TOPMed
rs966199515	251	M>V		No	TOPMed gnomAD
rs1318750476	252	P>R		No	gnomAD
rs199751824	253	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199751824	253	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs919428393	254	K>E		No	TOPMed gnomAD
rs776983135	257	P>A		No	ExAC gnomAD
rs776983135	257	P>S		No	ExAC gnomAD
rs1201466862	258	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2055135601	259	P>L		No	TOPMed
rs2055136098	261	G>D		No	Ensembl
rs1261513727	262	G>D		No	gnomAD
rs746305206	262	G>S		No	ExAC gnomAD
rs1387648248	263	N>K		No	gnomAD
rs1190640339	264	L>F		No	gnomAD
rs2055140197	265	G>E		No	TOPMed
rs79454361	266	M>L		No	Ensembl
rs2055142592	268	S>N		No	TOPMed
rs2055141988	268	S>R		No	Ensembl
rs776085239	271	P>R		No	ExAC gnomAD
rs2055146525	272	D>A		No	TOPMed
rs1403197596	276	V>I		No	gnomAD
rs1467527861	278	P>S		No	TOPMed gnomAD
COSM3747965 rs373219260 COSM3747966 COSM3747964	279	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs373219260	279	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs373219260	279	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2055153779	280	S>L		No	TOPMed
rs2055155186	281	S>G		No	gnomAD
rs2055155903	281	S>N		No	Ensembl
rs766041224	281	S>R		No	ExAC TOPMed gnomAD
rs1281469976	282	K>N		No	gnomAD
rs754806380	285	M>I		No	ExAC TOPMed gnomAD
rs2055159295	286	P>A		No	Ensembl
rs777926012	287	P>A		No	ExAC TOPMed gnomAD
rs751751585	287	P>R		No	ExAC gnomAD
rs777926012	287	P>T		No	ExAC TOPMed gnomAD
rs757410498	288	L>P		No	ExAC gnomAD
rs2153798349	289	S>L		No	1000Genomes
rs1156456873	289	S>P		No	TOPMed
rs371903721	290	E>K		No	ESP TOPMed gnomAD
rs371903721	290	E>Q		No	ESP TOPMed gnomAD
rs1220030211	291	E>K		No	gnomAD
rs1278287218	293	E>D		No	gnomAD
rs1280625694	294	L>F		No	gnomAD
rs370231805	294	L>W		No	ESP ExAC TOPMed gnomAD
rs2057650939	295	E>G		No	TOPMed
rs325408	297	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1597314532	298	T>A		No	Ensembl
rs1597314532	298	T>P		No	Ensembl
rs325407	299	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs776198742	301	I>M		No	ExAC TOPMed gnomAD
rs1470079428	303	S>I		No	gnomAD
rs977516251	304	S>Y		No	Ensembl
rs745490285	305	Q>K		No	ExAC gnomAD
rs2058084124	306	A>G		No	TOPMed
rs926044570	307	T>I		No	Ensembl
rs769713418	307	T>P		No	ExAC gnomAD
rs986385216	309	P>S		No	TOPMed gnomAD
rs1403151791	310	L>F		No	TOPMed gnomAD
rs2058085784	310	L>P		No	TOPMed gnomAD
rs2153812291	312	T>P		No	Ensembl
rs774313312	313	P>Q		No	ExAC gnomAD
rs760715529	314	V>A		No	ExAC gnomAD
COSM699660 COSM699661 rs766432411 COSM699659	315	V>M	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1220727361	318	T>I		No	TOPMed gnomAD
rs754039795	319	T>A		No	ExAC gnomAD
rs755127907	319	T>I		No	ExAC gnomAD
rs755127907	319	T>N		No	ExAC gnomAD
rs2058088946	320	P>A		No	TOPMed
rs1432885682	322	L>F		No	TOPMed
rs753119776	323	P>L		No	ExAC TOPMed gnomAD
rs778187283	324	P>L		No	ExAC TOPMed gnomAD
rs1177372159	328	V>G		No	gnomAD
rs1883840625	328	V>M		No	Ensembl
rs373204094	332	M>L		No	ESP TOPMed gnomAD
rs373204094	332	M>V		No	ESP TOPMed gnomAD
rs769625421	336	Y>C		No	ExAC TOPMed gnomAD
rs775274782	337	N>D		No	ExAC gnomAD
rs2153812563	337	N>S		No	Ensembl
rs752008306	340	Y>C		No	ExAC TOPMed gnomAD
rs752008306	340	Y>F		No	ExAC TOPMed gnomAD
rs1304465099	340	Y>N		No	TOPMed
rs752008306	340	Y>S		No	ExAC TOPMed gnomAD
rs751045780	343	T>N		No	gnomAD
rs751045780	343	T>S		No	gnomAD
rs373128826	345	A>T		No	TOPMed gnomAD
rs1167637574	345	A>V		No	TOPMed gnomAD
rs945679983	346	D>V		No	Ensembl
rs889147027	347	L>P		No	TOPMed
rs1171751474	348	S>*		No	TOPMed gnomAD
rs1425183121	349	A>G		No	TOPMed gnomAD
rs779671375	349	A>S		No	ExAC gnomAD
COSM1375646 rs1425183121 COSM1375648 COSM1375647	349	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs754602729	352	G>S		No	ExAC TOPMed gnomAD
rs1293924463	353	F>C		No	gnomAD
rs778416281	354	N>S		No	ExAC TOPMed gnomAD
rs748043464 COSM1375651 COSM1375649 COSM1375650	355	S>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1359583377	356	P>R		No	gnomAD
rs777739995	357	G>E		No	ExAC gnomAD
rs746903028	360	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1314445937	362	G>R		No	gnomAD
rs2153825201	363	Q>*		No	1000Genomes
rs775485813	363	Q>R		No	ExAC gnomAD
rs749311515	364	V>M		No	ExAC TOPMed gnomAD
rs768987862	365	S>L		No	ExAC TOPMed gnomAD
rs2058549110	366	A>S		No	gnomAD
rs774402211	366	A>V		No	ExAC gnomAD
rs762285015	368	Q>K		No	ExAC gnomAD
rs2058549972	370	H>R		No	gnomAD
rs767723022	371	H>Q		No	ExAC TOPMed gnomAD
rs773886574	373	G>A		No	ExAC gnomAD
rs761196788	375	A>T		No	ExAC gnomAD
rs1199433031	376	A>V		No	gnomAD
rs766002593	378	S>N		No	ExAC TOPMed gnomAD
COSM86677 rs1037830845	379	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs897873312	379	S>Y		No	TOPMed
rs1160720970	381	V>A		No	gnomAD
rs1597353539	382	A>G		No	Ensembl
rs1378845081	382	A>S		No	gnomAD
rs886153299	383	G>A		No	TOPMed gnomAD
rs2058737971	384	G>R		No	TOPMed gnomAD
rs763506462	385	Q>*		No	gnomAD
rs763506462	385	Q>K		No	gnomAD
rs2058739142	387	S>P		No	TOPMed
rs2058739403	388	Q>P		No	TOPMed
rs2058739663	389	G>C		No	TOPMed
rs2058739945	390	S>Y		No	Ensembl
rs375108417	391	N>S		No	ESP ExAC TOPMed gnomAD
rs1323038646	392	L>V		No	TOPMed gnomAD
rs1056672385	393	S>C		No	TOPMed gnomAD
rs1397523154	393	S>T		No	TOPMed gnomAD
rs1456397524	396	T>S		No	gnomAD
rs1200413525	397	N>H		No	gnomAD
rs776974654	397	N>I		No	ExAC gnomAD
rs2058741986	398	Q>K		No	TOPMed
rs1012602620	400	I>V		No	TOPMed gnomAD
rs2058743396	401	S>I		No	TOPMed gnomAD
rs2058743396	401	S>N		No	TOPMed gnomAD
rs2058743702	404	S>F		No	TOPMed
rs2058744428	405	E>K		No	gnomAD
rs2058744685	406	P>L		No	gnomAD
rs1476923080	410	P>R		No	TOPMed gnomAD
rs752428663 COSM3936692	411	R>Q	oesophagus [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs764606745	411	R>W		No	ExAC gnomAD
rs1490237826	412	D>Y		No	TOPMed
rs372533601	413	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs372533601	413	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs763893561	414	M>I		No	ExAC
COSM1608129 rs1332579803	414	M>V	liver [Cosmic]	No	cosmic curated gnomAD
rs1359000862	415	T>I		No	TOPMed gnomAD
rs1359000862	415	T>S		No	TOPMed gnomAD
rs2058748452	416	P>L		No	TOPMed
rs369579124	417	S>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1007445184	418	G>C		No	gnomAD
rs1007445184	418	G>R		No	gnomAD
rs2058750888	419	F>L		No	Ensembl
rs866679051	419	F>L		No	gnomAD
rs1381368214	420	Q>H		No	gnomAD
rs2058754590	420	Q>R		No	TOPMed
rs2058756201	421	Q>H		No	Ensembl
rs2058756475	422	Q>P		No	TOPMed
rs1597354773	424	Q>P		No	Ensembl
rs1597354773	424	Q>R		No	Ensembl
rs200861006	425	Q>P		No	ExAC TOPMed gnomAD
rs755114794	426	Q>*		No	ExAC
rs757465493	426	Q>P		No	Ensembl
rs2058761037	428	Q>E		No	TOPMed
rs975766668	428	Q>H		No	TOPMed gnomAD
rs965675950	428	Q>P		No	Ensembl
rs3138597 CA7755653 RCV000455204	429	Q>missing		No	ClinGen ClinVar dbSNP
rs201861701	429	Q>P		No	gnomAD
rs1193162148	430	Q>H		No	TOPMed gnomAD
rs199811207	430	Q>P		No	Ensembl
rs778791945	431	P>L		No	ExAC TOPMed gnomAD
rs778791945	431	P>Q		No	ExAC TOPMed gnomAD
rs778791945	431	P>R		No	ExAC TOPMed gnomAD
rs369815961	432	P>L		No	1000Genomes ESP TOPMed gnomAD
rs369815961 COSM321649	432	P>Q	lung [Cosmic]	No	cosmic curated 1000Genomes ESP TOPMed gnomAD
rs369815961	432	P>R		No	1000Genomes ESP TOPMed gnomAD
rs1157233240	433	P>Q		No	TOPMed gnomAD
rs1169041802	433	P>S		No	gnomAD
rs1052360469	434	P>L		No	TOPMed gnomAD
rs1052360469	434	P>Q		No	TOPMed gnomAD
rs1052360469	434	P>R		No	TOPMed gnomAD
TCGA novel rs1487767106	435	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1487767106	435	P>Q		No	TOPMed gnomAD
rs1487767106	435	P>R		No	TOPMed gnomAD
rs778137086	435	P>S		No	ExAC TOPMed gnomAD
rs778137086	435	P>T		No	ExAC TOPMed gnomAD
rs2153832754	436	Q>H		No	Ensembl
rs2153832749	436	Q>P		No	Ensembl
rs2153832749	436	Q>R		No	Ensembl
rs1218337915	437	P>A		No	Ensembl
rs1218337915	437	P>S		No	Ensembl
rs2058779860	438	Q>P		No	Ensembl
rs1337825692	440	Q>H		No	gnomAD
rs2058780506	440	Q>P		No	gnomAD
VAR_017743	440	Q>del	loss of nuclear localization; 66% decrease in transcription activation; loss of synergistic activation by MEF2A and GATA1 through a dominant-negative mechanism [UniProt]	No	UniProt
rs2058781849	441	P>L		No	Ensembl
rs1290730801	441	P>S		No	TOPMed
rs527482416	442	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs1344231640	443	Q>H		No	gnomAD
rs2153832890	443	Q>P		No	Ensembl
rs2058784217	445	Q>H		No	Ensembl
rs1286041381	445	Q>P		No	TOPMed
rs1286041381	445	Q>R		No	TOPMed
rs2058784558	446	P>S		No	TOPMed
rs1280505902	447	R>*		No	gnomAD
rs769355862	447	R>L		No	ExAC TOPMed gnomAD
rs769355862	447	R>P		No	ExAC TOPMed gnomAD
rs769355862	447	R>Q		No	ExAC TOPMed gnomAD
rs2058786070	448	Q>K		No	TOPMed
rs1284113826	449	E>K		No	gnomAD
rs2153833008	450	M>K		No	Ensembl
rs762442500	452	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs762442500	452	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs1246144047	452	R>H		No	TOPMed gnomAD
rs1246144047	452	R>L		No	TOPMed gnomAD
rs1246144047	452	R>P		No	TOPMed gnomAD
rs1477329333	454	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1193389239	455	V>G		No	gnomAD
rs370921147	457	S>G		No	ESP ExAC gnomAD
rs1419448991	457	S>I		No	gnomAD
rs370921147	457	S>R		No	ESP ExAC gnomAD
rs751187554	459	S>G		No	ExAC
rs1361613790	459	S>N		No	TOPMed gnomAD
rs1157745214	461	S>C		No	gnomAD
rs761616362	463	S>G		No	ExAC
rs1358216124	463	S>N		No	gnomAD
rs1689357946	465	Y>C		No	TOPMed
rs1318408228	466	D>G		No	gnomAD
rs2058792780	467	G>A		No	TOPMed
rs1329960155	468	S>G		No	TOPMed gnomAD
rs1276526406	470	R>Q		No	TOPMed gnomAD
rs750377523	470	R>W		No	ExAC TOPMed gnomAD
rs1371515606	471	E>K		No	gnomAD
rs2058794449	473	P>A		No	Ensembl
rs780027711	474	R>Q		No	ExAC TOPMed gnomAD
rs755946369	474	R>W		No	ExAC TOPMed gnomAD
rs1356142229	475	G>D		No	gnomAD
rs1289284711	476	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs758521525	479	S>F		No	ExAC TOPMed
rs758521525	479	S>Y		No	ExAC TOPMed
rs1224480388	480	P>L		No	TOPMed gnomAD
rs1224480388	480	P>Q		No	TOPMed gnomAD
rs2153833300	480	P>S		No	Ensembl
rs771456542	481	I>M		No	ExAC TOPMed gnomAD
rs2058798382	481	I>T		No	Ensembl
rs111748677 RCV000960069	481	I>V		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs997173174	482	V>A		No	TOPMed gnomAD
rs2058799232	482	V>M		No	TOPMed
rs1597357106	484	G>S		No	Ensembl
COSM5182641 rs1470974611	485	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs370778860	485	R>Q		No	ESP ExAC TOPMed gnomAD
rs1317422523	486	P>H		No	TOPMed
rs868004044	487	P>Q		No	Ensembl
rs1403069029	487	P>S		No	gnomAD
rs1327924467	488	N>D		No	gnomAD
rs2058803328	491	D>G		No	gnomAD
rs571138739	493	E>*		No	1000Genomes ExAC gnomAD
rs2058803608	493	E>D		No	gnomAD
rs571138739	493	E>K		No	1000Genomes ExAC gnomAD
rs1445884204	494	S>C		No	TOPMed gnomAD
rs1445884204	494	S>G		No	TOPMed gnomAD
rs1306816502	497	V>I		No	gnomAD
rs2058805082	499	R>*		No	Ensembl
rs770266173	499	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs768102176	504	A>T		No	ExAC TOPMed gnomAD
rs950518601	504	A>V		No	TOPMed gnomAD
rs761387435	505	W>*		No	ExAC gnomAD
rs767358305	505	W>C		No	ExAC gnomAD
rs1240434415	508	T>E		No	gnomAD

1 associated diseases with Q02078

[MIM: 608320]: Coronary artery disease, autosomal dominant, 1 (ADCAD1)

A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q02078

Type	Name	Position	InterPro Accession
domain	Transcription factor, MADS-box	1 - 61	IPR002100
domain	Holliday junction regulator protein family C-terminal	95 - 153	IPR022102
domain	MADS MEF2-like	2 - 78	IPR033896

Functions

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

5 GO annotations of cellular component

Name	Definition
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.
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.

14 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
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.
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
histone acetyltransferase binding	Binding to an histone acetyltransferase.
histone deacetylase binding	Binding to histone deacetylase.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
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.
SMAD binding	Binding to a SMAD signaling protein.

18 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cardiac conduction	Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles.
cell differentiation	The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cellular response to calcium ion	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
dendrite morphogenesis	The process in which the anatomical structures of a dendrite are generated and organized.
DNA-templated transcription	The synthesis of an RNA transcript from a DNA template.
ERK5 cascade	An intracellular protein kinase cascade containing at least ERK5 (also called BMK1; a MAPK), a MEK (a MAPKK) and a MAP3K. The cascade can also contain an additional tier
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.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers
mitochondrial genome maintenance	The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome.
mitochondrion distribution	Any process that establishes the spatial arrangement of mitochondria between and within cells.
muscle organ development	The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.
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 cardiac muscle hypertrophy	Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of glucose import	Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.
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.
ventricular cardiac myofibril assembly	The process whose specific outcome is the progression of the ventricular cardiac myofibril over time, from its formation to the mature structure. A cardiac myofibril is a myofibril specific to cardiac muscle cells.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A2VDZ3	MEF2A	Myocyte-specific enhancer factor 2A	Bos taurus (Bovine)	SS
Q9W6U8	MEF2A	Myocyte-specific enhancer factor 2A	Gallus gallus (Chicken)	SS
Q06413	MEF2C	Myocyte-specific enhancer factor 2C	Homo sapiens (Human)	EV
Q8CFN5	Mef2c	Myocyte-specific enhancer factor 2C	Mus musculus (Mouse)	SS
Q60929	Mef2a	Myocyte-specific enhancer factor 2A	Mus musculus (Mouse)	SS
A4UTP7	MEF2C	Myocyte-specific enhancer factor 2C	Sus scrofa (Pig)	SS
A2ICN5	MEF2A	Myocyte-specific enhancer factor 2A	Sus scrofa (Pig)	SS
A0A096MJY4	Mef2c	Myocyte-specific enhancer factor 2C	Rattus norvegicus (Rat)	SS
Q2MJT0	Mef2a	Myocyte-specific enhancer factor 2A	Rattus norvegicus (Rat)	SS
Q40702	MADS2	MADS-box transcription factor 2	Oryza sativa subsp japonica (Rice)	PR
Q5K4R0	MADS47	MADS-box transcription factor 47	Oryza sativa subsp japonica (Rice)	PR
Q655V4	MADS30	MADS-box transcription factor 30	Oryza sativa subsp japonica (Rice)	PR
P35632	AP3	Floral homeotic protein APETALA 3	Arabidopsis thaliana (Mouse-ear cress)	PR
P29383	AGL3	Agamous-like MADS-box protein AGL3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q683D7	MAF5	Protein MADS AFFECTING FLOWERING 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q1PFA4	AGL30	Agamous-like MADS-box protein AGL30	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FUY6	J	MADS-box protein JOINTLESS	Solanum lycopersicum (Tomato) (Lycopersicon esculentum)	PR

10	20	30	40	50	60
MGRKKIQITR	IMDERNRQVT	FTKRKFGLMK	KAYELSVLCD	CEIALIIFNS	SNKLFQYAST
70	80	90	100	110	120
DMDKVLLKYT	EYNEPHESRT	NSDIVEALNK	KEHRGCDSPD	PDTSYVLTPH	TEEKYKKINE
130	140	150	160	170	180
EFDNMMRNHK	IAPGLPPQNF	SMSVTVPVTS	PNALSYTNPG	SSLVSPSLAA	SSTLTDSSML
190	200	210	220	230	240
SPPQTTLHRN	VSPGAPQRPP	STGNAGGMLS	TTDLTVPNGA	GSSPVGNGFV	NSRASPNLIG
250	260	270	280	290	300
ATGANSLGKV	MPTKSPPPPG	GGNLGMNSRK	PDLRVVIPPS	SKGMMPPLSE	EEELELNTQR
310	320	330	340	350	360
ISSSQATQPL	ATPVVSVTTP	SLPPQGLVYS	AMPTAYNTDY	SLTSADLSAL	QGFNSPGMLS
370	380	390	400	410	420
LGQVSAWQQH	HLGQAALSSL	VAGGQLSQGS	NLSINTNQNI	SIKSEPISPP	RDRMTPSGFQ
430	440	450	460	470	480
QQQQQQQQQQ	PPPPPQPQPQ	PPQPQPRQEM	GRSPVDSLSS	SSSSYDGSDR	EDPRGDFHSP
490	500
IVLGRPPNTE	DRESPSVKRM	RMDAWVT