Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4208
Gene name Gene Name - the full gene name approved by the HGNC.	Myocyte enhancer factor 2C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MEF2C
Synonyms (NCBI Gene) Gene synonyms aliases	C5DELq14.3, DEL5q14.3, NEDHSIL
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q14.3
Summary Summary of gene provided in NCBI Entrez Gene.	This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs267607233	G>C	Pathogenic	Coding sequence variant, stop gained
rs397514655	A>G,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs397514656	C>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs398123686	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs545185248	A>G,T	Pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant
rs587783747	G>A	Pathogenic	Coding sequence variant, stop gained
rs587783749	A>-	Pathogenic	Coding sequence variant, stop gained, intron variant
rs730882192	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs777826971	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs781632867	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786200981	->C	Pathogenic	Coding sequence variant, frameshift variant
rs796052728	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs796052733	G>A	Pathogenic	Coding sequence variant, stop gained
rs797045053	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs869312698	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs876661308	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1057520584	C>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1057521717	A>C	Likely-pathogenic	Intron variant
rs1064793730	A>G	Pathogenic	Splice donor variant
rs1064797310	C>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1202957297	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1554102556	T>G	Pathogenic	Splice acceptor variant
rs1554110298	CCTGCACCAGACG>GTGGAGAC	Pathogenic	Coding sequence variant, frameshift variant
rs1554112069	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1554139674	A>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1554139693	C>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1554139723	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554139771	CA>-	Pathogenic	Coding sequence variant, stop gained, inframe indel, genic upstream transcript variant
rs1554139870	T>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1554150543	CTGT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554150552	->A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1554150590	TT>-,T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554150607	C>G	Pathogenic	Missense variant, initiator codon variant, genic upstream transcript variant
rs1561697465	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1561698356	G>A	Pathogenic	Stop gained, coding sequence variant
rs1561824498	C>A	Pathogenic	Splice acceptor variant
rs1561875779	CACA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1580988074	A>C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1580988138	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1580990072	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1581321362	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1581338441	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1581392920	G>-	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000128	hsa-miR-223-3p	Luciferase reporter assay	18278031
MIRT000128	hsa-miR-223-3p	Review	20029422
MIRT005737	hsa-miR-21-5p	Immunofluorescence, In situ hybridization, Luciferase reporter assay	21170291
MIRT005737	hsa-miR-21-5p	Immunofluorescence, In situ hybridization, Luciferase reporter assay	21170291
MIRT000128	hsa-miR-223-3p	Immunofluorescence, qRT-PCR, Western blot	23094093
MIRT029032	hsa-miR-26b-5p	Microarray	19088304
MIRT052262	hsa-let-7b-5p	CLASH	23622248
MIRT051852	hsa-let-7c-5p	CLASH	23622248
MIRT049691	hsa-miR-92a-3p	CLASH	23622248
MIRT628015	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT628014	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT628013	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT628012	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT628011	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT628010	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT628009	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT628008	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT628007	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT731568	hsa-miR-23a-3p	Luciferase reporter assay	26897085
MIRT731568	hsa-miR-23a-3p	Luciferase reporter assay	26897085
MIRT731679	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	27796324
MIRT731679	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	27796324
MIRT736963	hsa-miR-135b-5p	Luciferase reporter assay, qRT-PCR	26184978
MIRT736963	hsa-miR-135b-5p	Luciferase reporter assay, qRT-PCR	26184978
MIRT736963	hsa-miR-135b-5p	CLIP-seq, qRT-PCR	32221048
MIRT737183	hsa-miR-802	RNA-seq, Immunofluorescence, qRT-PCR	31930767
MIRT737184	hsa-miR-194-5p	RNA-seq, Immunofluorescence, qRT-PCR	31930767
MIRT737335	hsa-miR-638	Luciferase reporter assay, Western blotting, Microarray, RNA-seq	32186750
MIRT628015	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT628014	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT628013	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT628012	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT628011	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT628010	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT628009	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT628008	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT628007	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1142147	hsa-miR-1286	CLIP-seq
MIRT1142148	hsa-miR-3169	CLIP-seq
MIRT1142149	hsa-miR-3189-5p	CLIP-seq
MIRT1142150	hsa-miR-4436a	CLIP-seq
MIRT1142151	hsa-miR-452	CLIP-seq
MIRT1142152	hsa-miR-455-5p	CLIP-seq
MIRT1142153	hsa-miR-4676-3p	CLIP-seq
MIRT1142154	hsa-miR-4700-3p	CLIP-seq
MIRT1142155	hsa-miR-4722-5p	CLIP-seq
MIRT1142156	hsa-miR-4758-3p	CLIP-seq
MIRT1142157	hsa-miR-5095	CLIP-seq
MIRT1142158	hsa-miR-659	CLIP-seq
MIRT1142159	hsa-miR-2053	CLIP-seq
MIRT1142160	hsa-miR-27a	CLIP-seq
MIRT1142161	hsa-miR-27b	CLIP-seq
MIRT1142162	hsa-miR-3609	CLIP-seq
MIRT1142163	hsa-miR-3659	CLIP-seq
MIRT1142164	hsa-miR-4445	CLIP-seq
MIRT1142165	hsa-miR-4495	CLIP-seq
MIRT1142166	hsa-miR-4658	CLIP-seq
MIRT1142167	hsa-miR-4659a-3p	CLIP-seq
MIRT1142168	hsa-miR-4659b-3p	CLIP-seq
MIRT1142169	hsa-miR-4666-5p	CLIP-seq
MIRT1142170	hsa-miR-4699-3p	CLIP-seq
MIRT1142171	hsa-miR-4731-3p	CLIP-seq
MIRT1142172	hsa-miR-4775	CLIP-seq
MIRT1142173	hsa-miR-4778-3p	CLIP-seq
MIRT1142174	hsa-miR-4796-5p	CLIP-seq
MIRT1142175	hsa-miR-4801	CLIP-seq
MIRT1142176	hsa-miR-513a-5p	CLIP-seq
MIRT1142177	hsa-miR-548ah	CLIP-seq
MIRT1142178	hsa-miR-569	CLIP-seq
MIRT1142179	hsa-miR-574-5p	CLIP-seq
MIRT1142180	hsa-let-7a	CLIP-seq
MIRT1142181	hsa-let-7b	CLIP-seq
MIRT1142182	hsa-let-7c	CLIP-seq
MIRT1142183	hsa-let-7d	CLIP-seq
MIRT1142184	hsa-let-7e	CLIP-seq
MIRT1142185	hsa-let-7f	CLIP-seq
MIRT1142186	hsa-let-7g	CLIP-seq
MIRT1142187	hsa-let-7i	CLIP-seq
MIRT1142188	hsa-miR-1283	CLIP-seq
MIRT1142189	hsa-miR-1323	CLIP-seq
MIRT1142190	hsa-miR-186	CLIP-seq
MIRT1142191	hsa-miR-200b	CLIP-seq
MIRT1142192	hsa-miR-200c	CLIP-seq
MIRT1142193	hsa-miR-202	CLIP-seq
MIRT1142194	hsa-miR-3133	CLIP-seq
MIRT1142195	hsa-miR-3613-3p	CLIP-seq
MIRT1142196	hsa-miR-3646	CLIP-seq
MIRT1142197	hsa-miR-369-3p	CLIP-seq
MIRT1142198	hsa-miR-380	CLIP-seq
MIRT1142199	hsa-miR-3924	CLIP-seq
MIRT1142200	hsa-miR-429	CLIP-seq
MIRT1142201	hsa-miR-4458	CLIP-seq
MIRT1142165	hsa-miR-4495	CLIP-seq
MIRT1142202	hsa-miR-4500	CLIP-seq
MIRT1142203	hsa-miR-4511	CLIP-seq
MIRT1142204	hsa-miR-4643	CLIP-seq
MIRT1142205	hsa-miR-466	CLIP-seq
MIRT1142206	hsa-miR-4680-3p	CLIP-seq
MIRT1142207	hsa-miR-4789-3p	CLIP-seq
MIRT1142208	hsa-miR-520d-5p	CLIP-seq
MIRT1142209	hsa-miR-524-5p	CLIP-seq
MIRT1142210	hsa-miR-548g	CLIP-seq
MIRT1142211	hsa-miR-548o	CLIP-seq
MIRT1142212	hsa-miR-607	CLIP-seq
MIRT1142213	hsa-miR-98	CLIP-seq
MIRT2040365	hsa-miR-4633-5p	CLIP-seq
MIRT1142158	hsa-miR-659	CLIP-seq
MIRT1142148	hsa-miR-3169	CLIP-seq
MIRT1142154	hsa-miR-4700-3p	CLIP-seq
MIRT1142157	hsa-miR-5095	CLIP-seq
MIRT1142158	hsa-miR-659	CLIP-seq
MIRT2569267	hsa-miR-1237	CLIP-seq
MIRT2569268	hsa-miR-1248	CLIP-seq
MIRT2569269	hsa-miR-1267	CLIP-seq
MIRT2569270	hsa-miR-132	CLIP-seq
MIRT2569271	hsa-miR-137	CLIP-seq
MIRT2569272	hsa-miR-188-5p	CLIP-seq
MIRT2569273	hsa-miR-1910	CLIP-seq
MIRT2569274	hsa-miR-194	CLIP-seq
MIRT2569275	hsa-miR-204	CLIP-seq
MIRT2569276	hsa-miR-21	CLIP-seq
MIRT2569277	hsa-miR-211	CLIP-seq
MIRT2569278	hsa-miR-2115	CLIP-seq
MIRT2569279	hsa-miR-212	CLIP-seq
MIRT2569280	hsa-miR-219-5p	CLIP-seq
MIRT2569281	hsa-miR-223	CLIP-seq
MIRT2569282	hsa-miR-302a	CLIP-seq
MIRT2569283	hsa-miR-302b	CLIP-seq
MIRT2569284	hsa-miR-302c	CLIP-seq
MIRT2569285	hsa-miR-302d	CLIP-seq
MIRT2569286	hsa-miR-302e	CLIP-seq
MIRT2569287	hsa-miR-3117-5p	CLIP-seq
MIRT2569288	hsa-miR-3156-5p	CLIP-seq
MIRT2569289	hsa-miR-329	CLIP-seq
MIRT2569290	hsa-miR-330-3p	CLIP-seq
MIRT2569291	hsa-miR-337-3p	CLIP-seq
MIRT2569292	hsa-miR-338-3p	CLIP-seq
MIRT2569293	hsa-miR-3613-5p	CLIP-seq
MIRT2569294	hsa-miR-3614-3p	CLIP-seq
MIRT2569295	hsa-miR-362-3p	CLIP-seq
MIRT2569296	hsa-miR-3655	CLIP-seq
MIRT2569297	hsa-miR-372	CLIP-seq
MIRT2569298	hsa-miR-373	CLIP-seq
MIRT2569299	hsa-miR-421	CLIP-seq
MIRT2569300	hsa-miR-4255	CLIP-seq
MIRT2569301	hsa-miR-4310	CLIP-seq
MIRT1142164	hsa-miR-4445	CLIP-seq
MIRT2569302	hsa-miR-450b-5p	CLIP-seq
MIRT2569303	hsa-miR-4530	CLIP-seq
MIRT2569304	hsa-miR-4639-5p	CLIP-seq
MIRT2569305	hsa-miR-4652-3p	CLIP-seq
MIRT2569306	hsa-miR-4668-3p	CLIP-seq
MIRT2569307	hsa-miR-4670-3p	CLIP-seq
MIRT2569308	hsa-miR-4709-5p	CLIP-seq
MIRT2569309	hsa-miR-4782-3p	CLIP-seq
MIRT2569310	hsa-miR-4803	CLIP-seq
MIRT2569311	hsa-miR-507	CLIP-seq
MIRT2569312	hsa-miR-516a-3p	CLIP-seq
MIRT2569313	hsa-miR-518a-5p	CLIP-seq
MIRT2569314	hsa-miR-520a-3p	CLIP-seq
MIRT2569315	hsa-miR-520b	CLIP-seq
MIRT2569316	hsa-miR-520c-3p	CLIP-seq
MIRT2569317	hsa-miR-520d-3p	CLIP-seq
MIRT2569318	hsa-miR-520e	CLIP-seq
MIRT2569319	hsa-miR-527	CLIP-seq
MIRT2569320	hsa-miR-548ac	CLIP-seq
MIRT2569321	hsa-miR-548ae	CLIP-seq
MIRT2569322	hsa-miR-548aj	CLIP-seq
MIRT2569323	hsa-miR-548am	CLIP-seq
MIRT2569324	hsa-miR-548d-3p	CLIP-seq
MIRT2569325	hsa-miR-548x	CLIP-seq
MIRT2569326	hsa-miR-548z	CLIP-seq
MIRT2569327	hsa-miR-557	CLIP-seq
MIRT2569328	hsa-miR-578	CLIP-seq
MIRT2569329	hsa-miR-590-5p	CLIP-seq
MIRT2569330	hsa-miR-628-5p	CLIP-seq
MIRT2569331	hsa-miR-642b	CLIP-seq
MIRT2569332	hsa-miR-935	CLIP-seq
MIRT2569308	hsa-miR-4709-5p	CLIP-seq
MIRT2684809	hsa-miR-1245b-3p	CLIP-seq
MIRT2569269	hsa-miR-1267	CLIP-seq
MIRT2684810	hsa-miR-1297	CLIP-seq
MIRT2569270	hsa-miR-132	CLIP-seq
MIRT2569271	hsa-miR-137	CLIP-seq
MIRT2684811	hsa-miR-146a	CLIP-seq
MIRT2684812	hsa-miR-146b-5p	CLIP-seq
MIRT2569272	hsa-miR-188-5p	CLIP-seq
MIRT2569273	hsa-miR-1910	CLIP-seq
MIRT2569274	hsa-miR-194	CLIP-seq
MIRT2569275	hsa-miR-204	CLIP-seq
MIRT2569276	hsa-miR-21	CLIP-seq
MIRT2569277	hsa-miR-211	CLIP-seq
MIRT2569278	hsa-miR-2115	CLIP-seq
MIRT2569279	hsa-miR-212	CLIP-seq
MIRT2569280	hsa-miR-219-5p	CLIP-seq
MIRT2569281	hsa-miR-223	CLIP-seq
MIRT2684813	hsa-miR-26a	CLIP-seq
MIRT2684814	hsa-miR-26b	CLIP-seq
MIRT2569282	hsa-miR-302a	CLIP-seq
MIRT2569283	hsa-miR-302b	CLIP-seq
MIRT2569284	hsa-miR-302c	CLIP-seq
MIRT2569285	hsa-miR-302d	CLIP-seq
MIRT2569286	hsa-miR-302e	CLIP-seq
MIRT2569287	hsa-miR-3117-5p	CLIP-seq
MIRT2569289	hsa-miR-329	CLIP-seq
MIRT2569290	hsa-miR-330-3p	CLIP-seq
MIRT2569291	hsa-miR-337-3p	CLIP-seq
MIRT2569293	hsa-miR-3613-5p	CLIP-seq
MIRT2569294	hsa-miR-3614-3p	CLIP-seq
MIRT2569295	hsa-miR-362-3p	CLIP-seq
MIRT2569297	hsa-miR-372	CLIP-seq
MIRT2569298	hsa-miR-373	CLIP-seq
MIRT2569299	hsa-miR-421	CLIP-seq
MIRT2569300	hsa-miR-4255	CLIP-seq
MIRT2569301	hsa-miR-4310	CLIP-seq
MIRT2684815	hsa-miR-4423-3p	CLIP-seq
MIRT1142164	hsa-miR-4445	CLIP-seq
MIRT2684816	hsa-miR-4461	CLIP-seq
MIRT2684817	hsa-miR-4465	CLIP-seq
MIRT2569302	hsa-miR-450b-5p	CLIP-seq
MIRT2569304	hsa-miR-4639-5p	CLIP-seq
MIRT2569305	hsa-miR-4652-3p	CLIP-seq
MIRT2684818	hsa-miR-4659a-5p	CLIP-seq
MIRT2684819	hsa-miR-4659b-5p	CLIP-seq
MIRT2569306	hsa-miR-4668-3p	CLIP-seq
MIRT2569307	hsa-miR-4670-3p	CLIP-seq
MIRT2569308	hsa-miR-4709-5p	CLIP-seq
MIRT2684820	hsa-miR-4719	CLIP-seq
MIRT2684821	hsa-miR-4773	CLIP-seq
MIRT2569309	hsa-miR-4782-3p	CLIP-seq
MIRT2569310	hsa-miR-4803	CLIP-seq
MIRT2569311	hsa-miR-507	CLIP-seq
MIRT2569312	hsa-miR-516a-3p	CLIP-seq
MIRT2569313	hsa-miR-518a-5p	CLIP-seq
MIRT2569314	hsa-miR-520a-3p	CLIP-seq
MIRT2569315	hsa-miR-520b	CLIP-seq
MIRT2569316	hsa-miR-520c-3p	CLIP-seq
MIRT2569317	hsa-miR-520d-3p	CLIP-seq
MIRT2569318	hsa-miR-520e	CLIP-seq
MIRT2569319	hsa-miR-527	CLIP-seq
MIRT2569320	hsa-miR-548ac	CLIP-seq
MIRT2569321	hsa-miR-548ae	CLIP-seq
MIRT2569322	hsa-miR-548aj	CLIP-seq
MIRT2569323	hsa-miR-548am	CLIP-seq
MIRT2569324	hsa-miR-548d-3p	CLIP-seq
MIRT2569325	hsa-miR-548x	CLIP-seq
MIRT2569326	hsa-miR-548z	CLIP-seq
MIRT2569327	hsa-miR-557	CLIP-seq
MIRT2684822	hsa-miR-589	CLIP-seq
MIRT2569329	hsa-miR-590-5p	CLIP-seq
MIRT2569330	hsa-miR-628-5p	CLIP-seq
MIRT2569331	hsa-miR-642b	CLIP-seq
MIRT2569332	hsa-miR-935	CLIP-seq
MIRT2569308	hsa-miR-4709-5p	CLIP-seq

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
GFI1B	Repression	21261500
HDAC7	Repression	11585834
HIPK2	Repression	23620283
ISL1	Activation	23152444
NKX2-5	Repression	21261500

Show/Hide all(129)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18079734
GO:0000165	Process	MAPK cascade	IDA	9858528
GO:0000165	Process	MAPK cascade	IMP	11160896
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	8455629
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	8455629
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	21610032
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	15486975
GO:0001568	Process	Blood vessel development	ISS
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0001764	Process	Neuron migration	ISS
GO:0001782	Process	B cell homeostasis	ISS
GO:0001947	Process	Heart looping	ISS
GO:0001958	Process	Endochondral ossification	ISS
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0002467	Process	Germinal center formation	ISS
GO:0002634	Process	Regulation of germinal center formation	ISS
GO:0002931	Process	Response to ischemia	ISS
GO:0003138	Process	Primary heart field specification	ISS
GO:0003139	Process	Secondary heart field specification	ISS
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003185	Process	Sinoatrial valve morphogenesis	ISS
GO:0003211	Process	Cardiac ventricle formation	ISS
GO:0003677	Function	DNA binding	IDA	11744164
GO:0003677	Function	DNA binding	IEA
GO:0003680	Function	Minor groove of adenine-thymine-rich DNA binding	IDA	15486975
GO:0003700	Function	DNA-binding transcription factor activity	IDA	16043483
GO:0005515	Function	Protein binding	IPI	15486975, 16510869, 18588859, 20211142, 20936779, 21556048, 23752268, 31988313, 32296183, 37207277
GO:0005634	Component	Nucleus	IDA	8455629, 9770491, 11744164, 16510869, 21170291, 24008018
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	8455629
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	24008018
GO:0006915	Process	Apoptotic process	IEA
GO:0006959	Process	Humoral immune response	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	8455629
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IEP	10458488
GO:0007507	Process	Heart development	ISS
GO:0007507	Process	Heart development	NAS	15486975
GO:0007517	Process	Muscle organ development	TAS	8455629
GO:0007519	Process	Skeletal muscle tissue development	ISS
GO:0007521	Process	Muscle cell fate determination	ISS
GO:0007611	Process	Learning or memory	ISS
GO:0010628	Process	Positive regulation of gene expression	IDA	9857019, 21556048
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0014033	Process	Neural crest cell differentiation	ISS	21610032
GO:0014902	Process	Myotube differentiation	IEP	8455629
GO:0016528	Component	Sarcoplasm	IEA
GO:0016607	Component	Nuclear speck	IDA	18079734
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEP	8455629
GO:0030182	Process	Neuron differentiation	ISS
GO:0030220	Process	Platelet formation	ISS
GO:0030279	Process	Negative regulation of ossification	IDA	17696759
GO:0030318	Process	Melanocyte differentiation	ISS	21610032
GO:0030501	Process	Positive regulation of bone mineralization	ISS
GO:0030890	Process	Positive regulation of B cell proliferation	ISS
GO:0032991	Component	Protein-containing complex	IDA	15486975
GO:0035984	Process	Cellular response to trichostatin A	ISS
GO:0042100	Process	B cell proliferation	ISS
GO:0042826	Function	Histone deacetylase binding	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0043523	Process	Regulation of neuron apoptotic process	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	IGI	26184978
GO:0045652	Process	Regulation of megakaryocyte differentiation	ISS
GO:0045663	Process	Positive regulation of myoblast differentiation	IMP	9770491
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045669	Process	Positive regulation of osteoblast differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11744164, 17696759
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	8455629, 15486975, 16043483
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11160896, 21556048
GO:0046928	Process	Regulation of neurotransmitter secretion	ISS
GO:0046982	Function	Protein heterodimerization activity	IPI	9858528
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048643	Process	Positive regulation of skeletal muscle tissue development	IMP	9770491
GO:0048666	Process	Neuron development	ISS
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	ISS
GO:0050853	Process	B cell receptor signaling pathway	ISS
GO:0051145	Process	Smooth muscle cell differentiation	ISS
GO:0051963	Process	Regulation of synapse assembly	ISS
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0055012	Process	Ventricular cardiac muscle cell differentiation	ISS
GO:0060025	Process	Regulation of synaptic activity	ISS
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060998	Process	Regulation of dendritic spine development	ISS
GO:0061333	Process	Renal tubule morphogenesis	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	16043483
GO:0071222	Process	Cellular response to lipopolysaccharide	ISS
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071374	Process	Cellular response to parathyroid hormone stimulus	IDA	17696759
GO:0071466	Process	Cellular response to xenobiotic stimulus	ISS
GO:0071498	Process	Cellular response to fluid shear stress	ISS
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	9770491
GO:0072102	Process	Glomerulus morphogenesis	ISS
GO:0072160	Process	Nephron tubule epithelial cell differentiation	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098989	Process	NMDA selective glutamate receptor signaling pathway	ISS
GO:0098990	Process	AMPA selective glutamate receptor signaling pathway	ISS
GO:0140297	Function	DNA-binding transcription factor binding	IPI	11160896
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IDA	28799067
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IGI	26184978
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IDA	28799067
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IGI	26184978
GO:1905563	Process	Negative regulation of vascular endothelial cell proliferation	IGI	26184978
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000111	Process	Positive regulation of macrophage apoptotic process	ISS
GO:2000727	Process	Positive regulation of cardiac muscle cell differentiation	IDA	9857019
GO:2000987	Process	Positive regulation of behavioral fear response	ISS
GO:2001013	Process	Epithelial cell proliferation involved in renal tubule morphogenesis	ISS
GO:2001016	Process	Positive regulation of skeletal muscle cell differentiation	IDA	21556048

MIM	HGNC	e!Ensembl
600662	6996	ENSG00000081189

Protein

UniProt ID

Q06413

Protein name

Myocyte-specific enhancer factor 2C (Myocyte enhancer factor 2C)

Protein function

Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcrip

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00319	SRF-TF	10 → 57	SRF-type transcription factor (DNA-binding and dimerisation domain)	Domain
PF12347	HJURP_C	90 → 155	Holliday junction regulator protein family C-terminal repeat	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain and skeletal muscle. {ECO:0000269|PubMed:9798649}.

Sequence

MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSTNKLFQYAST
DMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKI
NEDIDLMISRQRLCAVPPPNFEMPVSIPVSSHNSLVYSNPVSSLGNPNLLPLAHPSLQRN
SMSPGVTHRPPSAGNTGGLMGGDLTSGAGTSAGNGYGNPRNSPGLLVSPGNLNKNMQAKS
PPPMNLGMNNRKPDLRVLIPPGSKNTMPSVSEDVDLLLNQRINNSQSAQSLATPVVSVAT
PTLPGQGMGGYPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGWQQQHLHNMPP
SALSQLGACTSTHLSQSSNLSLPSTQSLNIKSEPVSPPRDRTTTPSRYPQHTRHEAGRSP
VDSLSSCSSSYDGSDREDHRNEFHSPIGLTRPSPDERESPSVKRMRLSEGWAT

Sequence length

473

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway cGMP-PKG signaling pathway Apelin signaling pathway Oxytocin signaling pathway Parathyroid hormone synthesis, secretion and action Transcriptional misregulation in cancer Fluid shear stress and atherosclerosis		Transcriptional activation of mitochondrial biogenesis Circadian Clock Myogenesis

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Frontotemporal dementia	frontotemporal dementia	rs1085307051	N/A
Mental retardation	Intellectual disability, autosomal dominant 20, intellectual disability	rs730882192, rs876661308, rs587783749, rs1580988074, rs587783747, rs869312698, rs1759964009, rs1554150543, rs796052733, rs1554102556, rs1554150552, rs796052724, rs267607233, rs1561697465, rs397514655 View all (8 more)	N/A
autism spectrum disorder	Autism spectrum disorder	rs796052733, rs1561824498, rs796052728	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs1580990072	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Attention Deficit Hyperactivity Disorder	Attention deficit hyperactivity disorder	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Neuroblastoma	Neuroblastoma	N/A	N/A	GWAS
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC
Neuroticism	Neuroticism	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (75)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	33982215, 35710690
Alzheimer Disease	Associate	25114068, 25723573, 28199971, 34103633, 34767070, 35563596
Alzheimer Disease	Inhibit	29112298
Aphasia	Associate	31375103
Atherosclerosis	Associate	26184978
Attention Deficit Disorder with Hyperactivity	Associate	29413154, 36774336
Autism Spectrum Disorder	Associate	28533427, 30763456, 39259737
Autistic Disorder	Associate	30376817
Brain Ischemia	Stimulate	22363514
Breast Neoplasms	Associate	21939504, 33673112, 36128051
Carcinogenesis	Associate	36064442
Cardiomyopathies	Associate	25338953
Cataract	Associate	25352737
Cognition Disorders	Associate	28199971, 29112298, 30376817
Colorectal Neoplasms	Associate	32221048, 34950443, 36074971
Colorectal Neoplasms	Inhibit	36064442
Developmental Disabilities	Associate	30376817, 39259737
Diabetic Nephropathies	Inhibit	27825100
DiGeorge Syndrome	Inhibit	29025761
Ductus Arteriosus Patent	Associate	29104469
Epilepsy	Associate	19592390, 27966542, 30376817, 30763456, 33831796
Glioma	Associate	29631562
Gout	Associate	31738005
Heart Arrest	Associate	21481790
Heart Defects Congenital	Associate	29104469
Heart Diseases	Associate	23342164
Heart Failure	Associate	22363514
Heart Septal Defects Ventricular	Associate	29104469
Hemangioma capillary infantile	Associate	36181115
Hemangioma Cavernous Central Nervous System	Associate	19592390
Hip Fractures	Associate	34946961
Hypertrophy	Associate	26428636
Hypothyroidism	Inhibit	32597152
Immunoglobulin G4 Related Disease	Associate	23230269
Inflammation	Associate	35528167
Intellectual Disability	Associate	19592390, 24058414, 24253858, 30376817, 31375103, 33831796
Keloid	Associate	35047146
Labor Pain	Associate	29447339
Leukemia Myeloid Acute	Associate	22581002, 26487643, 35301220, 35528167, 35709529
Leukemia T Cell	Associate	23975177
Lung Neoplasms	Associate	37236507
Lymphoma Primary Effusion	Associate	33298918
Mandibular Nerve Injuries	Associate	36870952
Mental Disorders	Associate	30545854, 37002331, 39259737
Mitochondrial Diseases	Associate	24290359
Mitral Valve Insufficiency	Stimulate	27907007
Myotonic Dystrophy	Associate	21104860
Neoplasm Metastasis	Associate	36128051, 37762600
Neoplasms	Associate	21352556, 30703870, 36074971
Neoplasms	Inhibit	36064442
Neuromuscular Diseases	Associate	21104860
Oligodendroglioma	Associate	29631562
Osteoporosis	Associate	25132170
Pancreatic Neoplasms	Associate	40281485
Parkinson Disease	Associate	24290359
Pediatric acute onset neuropsychiatric syndrome	Associate	30545854
Philadelphia Chromosome	Associate	30190342
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23975177, 30190342, 35575404
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	21481790, 23975177, 27322685
Prostatic Neoplasms	Associate	15805119, 36128051
Pulmonary Arterial Hypertension	Associate	27144530
Pulmonary Disease Chronic Obstructive	Associate	25369292
Rett Syndrome	Associate	29322350, 30376817, 30445463
Schizophrenia	Associate	29032150, 39259737
Seizures	Associate	19592390
Speech Disorders	Associate	30376817
Stomach Neoplasms	Associate	36661663
Substance Related Disorders	Associate	37002331
Tetralogy of Fallot	Associate	29025761
Thyroiditis Autoimmune	Inhibit	32597152
Tics	Associate	30763456
Triple Negative Breast Neoplasms	Associate	37762600
Urinary Bladder Neoplasms	Associate	32420368, 33184436
Vascular Diseases	Associate	36639926
Wiedemann Grosse Dibbern syndrome	Associate	30376817

MEF2C (myocyte enhancer factor 2C)