• Gene id: 4208

Gene Summary

• Gene Symbol: MEF2C   Gene   UCSC   Ensembl
• Aliases: C5DELq14.3, DEL5q14.3
• Gene name: myocyte enhancer factor 2C
• Alternate names: myocyte-specific enhancer factor 2C, MADS box transcription enhancer factor 2, polypeptide C,
• Gene location: 5q14.3 (88904104: 88717116)     Exons: 21     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 600662

Protein Summary

• Protein general information: Q06413  
  • Name: Myocyte specific enhancer factor 2C (Myocyte enhancer factor 2C)
  • Length: 473  
  • Mass: 51221
  • Tissue specificity: Expressed in brain and skeletal muscle. {ECO
• Sequence:

  MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSTNKLFQYASTDMDKVLLKYTEYNEP
  HESRTNSDIVETLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLCAVPPPNFEMPVSIPVS
  SHNSLVYSNPVSSLGNPNLLPLAHPSLQRNSMSPGVTHRPPSAGNTGGLMGGDLTSGAGTSAGNGYGNPRNSPGL
  LVSPGNLNKNMQAKSPPPMNLGMNNRKPDLRVLIPPGSKNTMPSVSEDVDLLLNQRINNSQSAQSLATPVVSVAT
  PTLPGQGMGGYPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGWQQQHLHNMPPSALSQLGACTSTHLS
  QSSNLSLPSTQSLNIKSEPVSPPRDRTTTPSRYPQHTRHEAGRSPVDSLSSCSSSYDGSDREDHRNEFHSPIGLT
  RPSPDERESPSVKRMRLSEGWAT

• Structural information:
  • Protein Domains: (3..5-)
    (/note="MADS-box-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00251"-)
  • Interpro: IPR022102  IPR033896  IPR002100  IPR036879  
  • Prosite: PS00350 PS50066
  • CDD: cd00265
  • DIP: 40857
  • STRING: ENSP00000340874
• Other Databases: GeneCards:  MEF2C  Malacards:  MEF2C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0042826	histone deacetylase binding	IBA	molecular function
GO:0008134	transcription factor binding	IBA	molecular function
GO:0007507	heart development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0060025	regulation of synaptic activity	ISS	biological process
GO:0045652	regulation of megakaryocyte differentiation	ISS	biological process
GO:0007611	learning or memory	ISS	biological process
GO:0002634	regulation of germinal center formation	ISS	biological process
GO:0048666	neuron development	ISS	biological process
GO:0042100	B cell proliferation	ISS	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0007517	muscle organ development	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0051149	positive regulation of muscle cell differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0002634	regulation of germinal center formation	IEA	biological process
GO:0003139	secondary heart field specification	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006959	humoral immune response	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010694	positive regulation of alkaline phosphatase activity	IEA	biological process
GO:0014033	neural crest cell differentiation	IEA	biological process
GO:0014898	cardiac muscle hypertrophy in response to stress	IEA	biological process
GO:0030220	platelet formation	IEA	biological process
GO:0030501	positive regulation of bone mineralization	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0035984	cellular response to trichostatin A	IEA	biological process
GO:0043523	regulation of neuron apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045165	cell fate commitment	IEA	biological process
GO:0045652	regulation of megakaryocyte differentiation	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0046928	regulation of neurotransmitter secretion	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0048703	embryonic viscerocranium morphogenesis	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0050853	B cell receptor signaling pathway	IEA	biological process
GO:0051963	regulation of synapse assembly	IEA	biological process
GO:0060025	regulation of synaptic activity	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0060536	cartilage morphogenesis	IEA	biological process
GO:0060998	regulation of dendritic spine development	IEA	biological process
GO:0061333	renal tubule morphogenesis	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0071837	HMG box domain binding	IEA	molecular function
GO:0071864	positive regulation of cell proliferation in bone marrow	IEA	biological process
GO:0072160	nephron tubule epithelial cell differentiation	IEA	biological process
GO:2000727	positive regulation of cardiac muscle cell differentiation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000165	MAPK cascade	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001568	blood vessel development	IEA	biological process
GO:0001782	B cell homeostasis	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0002467	germinal center formation	IEA	biological process
GO:0003138	primary heart field specification	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003185	sinoatrial valve morphogenesis	IEA	biological process
GO:0003211	cardiac ventricle formation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0007521	muscle cell fate determination	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0030224	monocyte differentiation	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0030890	positive regulation of B cell proliferation	IEA	biological process
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0042100	B cell proliferation	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0048667	cell morphogenesis involved in neuron differentiation	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0051145	smooth muscle cell differentiation	IEA	biological process
GO:0051966	regulation of synaptic transmission, glutamatergic	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0055012	ventricular cardiac muscle cell differentiation	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060297	regulation of sarcomere organization	IEA	biological process
GO:0071498	cellular response to fluid shear stress	IEA	biological process
GO:0072102	glomerulus morphogenesis	IEA	biological process
GO:2000111	positive regulation of macrophage apoptotic process	IEA	biological process
GO:2000310	regulation of NMDA receptor activity	IEA	biological process
GO:2000311	regulation of AMPA receptor activity	IEA	biological process
GO:2000987	positive regulation of behavioral fear response	IEA	biological process
GO:2001013	epithelial cell proliferation involved in renal tubule morphogenesis	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016607	nuclear speck	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:1904753	negative regulation of vascular associated smooth muscle cell migration	IDA	biological process
GO:1905563	negative regulation of vascular endothelial cell proliferation	IGI	biological process
GO:1904753	negative regulation of vascular associated smooth muscle cell migration	IGI	biological process
GO:1904706	negative regulation of vascular smooth muscle cell proliferation	IDA	biological process
GO:0043537	negative regulation of blood vessel endothelial cell migration	IGI	biological process
GO:1904706	negative regulation of vascular smooth muscle cell proliferation	IGI	biological process
GO:0016528	sarcoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0043523	regulation of neuron apoptotic process	ISS	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0046928	regulation of neurotransmitter secretion	ISS	biological process
GO:0048167	regulation of synaptic plasticity	ISS	biological process
GO:2000310	regulation of NMDA receptor activity	ISS	biological process
GO:2000311	regulation of AMPA receptor activity	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0060079	excitatory postsynaptic potential	ISS	biological process
GO:0048667	cell morphogenesis involved in neuron differentiation	ISS	biological process
GO:0060998	regulation of dendritic spine development	ISS	biological process
GO:0051963	regulation of synapse assembly	ISS	biological process
GO:0051966	regulation of synaptic transmission, glutamatergic	ISS	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0003680	AT DNA binding	IDA	molecular function
GO:2001016	positive regulation of skeletal muscle cell differentiation	IDA	biological process
GO:0071374	cellular response to parathyroid hormone stimulus	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000165	MAPK cascade	IDA	biological process
GO:2000727	positive regulation of cardiac muscle cell differentiation	IDA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0030279	negative regulation of ossification	IDA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0071222	cellular response to lipopolysaccharide	ISS	biological process
GO:0050853	B cell receptor signaling pathway	ISS	biological process
GO:0048643	positive regulation of skeletal muscle tissue development	IMP	biological process
GO:0035984	cellular response to trichostatin A	ISS	biological process
GO:0035690	cellular response to drug	ISS	biological process
GO:0014902	myotube differentiation	IEP	biological process
GO:0014033	neural crest cell differentiation	ISS	biological process
GO:0010694	positive regulation of alkaline phosphatase activity	ISS	biological process
GO:0001947	heart looping	ISS	biological process
GO:0001649	osteoblast differentiation	ISS	biological process
GO:2000111	positive regulation of macrophage apoptotic process	ISS	biological process
GO:0071498	cellular response to fluid shear stress	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045663	positive regulation of myoblast differentiation	IMP	biological process
GO:0033613	activating transcription factor binding	IPI	molecular function
GO:0030890	positive regulation of B cell proliferation	ISS	biological process
GO:0030318	melanocyte differentiation	ISS	biological process
GO:0030182	neuron differentiation	IEP	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0007519	skeletal muscle tissue development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003211	cardiac ventricle formation	ISS	biological process
GO:0003185	sinoatrial valve morphogenesis	ISS	biological process
GO:0000165	MAPK cascade	IMP	biological process
GO:0072160	nephron tubule epithelial cell differentiation	ISS	biological process
GO:0071277	cellular response to calcium ion	ISS	biological process
GO:0061333	renal tubule morphogenesis	ISS	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	ISS	biological process
GO:0045669	positive regulation of osteoblast differentiation	ISS	biological process
GO:0045666	positive regulation of neuron differentiation	ISS	biological process
GO:0030501	positive regulation of bone mineralization	ISS	biological process
GO:0030220	platelet formation	ISS	biological process
GO:0006959	humoral immune response	ISS	biological process
GO:0003139	secondary heart field specification	ISS	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0001958	endochondral ossification	ISS	biological process
GO:2001013	epithelial cell proliferation involved in renal tubule morphogenesis	ISS	biological process
GO:2000987	positive regulation of behavioral fear response	ISS	biological process
GO:0072102	glomerulus morphogenesis	ISS	biological process
GO:0055012	ventricular cardiac muscle cell differentiation	ISS	biological process
GO:0051145	smooth muscle cell differentiation	ISS	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0007521	muscle cell fate determination	ISS	biological process
GO:0007507	heart development	NAS	biological process
GO:0007507	heart development	IEP	biological process
GO:0007507	heart development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0003138	primary heart field specification	ISS	biological process
GO:0002467	germinal center formation	ISS	biological process
GO:0002062	chondrocyte differentiation	ISS	biological process
GO:0001782	B cell homeostasis	ISS	biological process
GO:0001568	blood vessel development	ISS	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa05202	Transcriptional misregulation in cancer
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa05418	Fluid shear stress and atherosclerosis
hsa04928	Parathyroid hormone synthesis, secretion and action
P06959	CCKR signaling map

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations	KEGG:H01223
Autosomal dominant mental retardation	KEGG:H00773
Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations	KEGG:H01223
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq