CleftGeneDB-Search

Gene: Mef2c

Basic information

Tag	Content
Uniprot ID	Q8CFN5; Q8R0H1; Q9D7L0; Q9QW20;
Entrez ID	17260
Genbank protein ID	BAB26099.1; AAH37731.1; AAH57650.1; AAH26841.1;
Genbank nucleotide ID	XM_011244492.2; NM_001347564.1; NM_001347574.1; XM_006517132.3; NM_001347569.1; XM_006517123.2; NM_001347572.1; NM_001347575.1; NM_001347576.1; NM_025282.3; NM_001347568.1; XM_017315405.1; XM_006517126.2; NM_001347567.1; NM_001347571.1; NM_001347566.1; NM_001347573.1; NM_001347577.1; XM_006517124.3;
Ensembl protein ID	ENSMUSP00000143742; ENSMUSP00000143227; ENSMUSP00000143401; ENSMUSP00000143315; ENSMUSP00000143212; ENSMUSP00000143420; ENSMUSP00000138826;
Ensembl nucleotide ID	ENSMUSG00000005583
Gene name	Myocyte-specific enhancer factor 2C
Gene symbol	Mef2c
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage	E14.5
Data sources	Manually collected
Reference	17420000
Functional description	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 transcriptional activation mediated by SOX18 (PubMed:11554755). May also be involved in neurogenesis and in the development of cortical architecture. Isoforms that lack the repressor domain are more active than isoform 1 (By similarity). Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells.
Sequence	MGRKKIQITR IMDERNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNS TNKLFQYAST 60 DMDKVLLKYT EYNEPHESRT NSDIVETLRK KGLNGCDSPD PDADDSVGHS PESEDKYRKI 120 NEDIDLMISR QRLCAVPPPS FEMPVTIPVS SHNSLVYSNP VSTLGNPNLL PLAHPSLQRN 180 SMSPGVTHRP PSAGNTGGLM GGDLTSGAGT SAGNGYGNPR NSPGLLVSPG NLNKNIQAKS 240 PPPMNLGMNN RKPDLRVLIP PGSKNTMPSV SEDVDLLLNQ RINNSQSAQS LATPVVSVAT 300 PTLPGQGMGG YPSAISTTYG TEYSLSSADL SSLSGFNTAS ALHLGSVTGW QQQHLHNMPP 360 SALSQLGACT STHLSQSSNL SLPSTQSLSI KSEPVSPPRD RTTTPSRYPQ HTTRHEAGRS 420 PVDSLSSCSS SYDGSDREDH RNEFHSPIGL TRPSPDERES PSVKRMRLSE GWAT 474

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

PDB ID
5F28

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	ISO
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISO
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000987	cis-regulatory region sequence-specific DNA binding	IDA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISO
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP
GO:0003677	DNA binding	ISO
GO:0003677	DNA binding	IDA
GO:0003680	AT DNA binding	ISO
GO:0003682	chromatin binding	IDA
GO:0003700	DNA-binding transcription factor activity	ISO
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0008134	transcription factor binding	IBA
GO:0033613	activating transcription factor binding	ISO
GO:0042826	histone deacetylase binding	IPI
GO:0042826	histone deacetylase binding	IBA
GO:0043565	sequence-specific DNA binding	IDA
GO:0043565	sequence-specific DNA binding	IBA
GO:0044212	transcription regulatory region DNA binding	IBA
GO:0044212	transcription regulatory region DNA binding	IDA
GO:0046982	protein heterodimerization activity	ISO
GO:0071837	HMG box domain binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS
GO:0000122	negative regulation of transcription by RNA polymerase II	ISO
GO:0000122	negative regulation of transcription by RNA polymerase II	IGI
GO:0000165	MAPK cascade	ISO
GO:0000165	MAPK cascade	IDA
GO:0000165	MAPK cascade	IMP
GO:0001568	blood vessel development	IMP
GO:0001649	osteoblast differentiation	IGI
GO:0001649	osteoblast differentiation	IEP
GO:0001764	neuron migration	IMP
GO:0001782	B cell homeostasis	IMP
GO:0001947	heart looping	IMP
GO:0001958	endochondral ossification	IGI
GO:0001958	endochondral ossification	IMP
GO:0001974	blood vessel remodeling	IMP
GO:0002062	chondrocyte differentiation	IGI
GO:0002467	germinal center formation	IMP
GO:0002634	regulation of germinal center formation	IMP
GO:0003138	primary heart field specification	IMP
GO:0003139	secondary heart field specification	IMP
GO:0003151	outflow tract morphogenesis	IGI
GO:0003185	sinoatrial valve morphogenesis	IMP
GO:0003211	cardiac ventricle formation	IMP
GO:0003211	cardiac ventricle formation	IGI
GO:0006355	regulation of transcription, DNA-templated	ISO
GO:0006355	regulation of transcription, DNA-templated	IDA
GO:0006915	apoptotic process	IEA
GO:0006959	humoral immune response	IMP
GO:0007275	multicellular organism development	IBA
GO:0007507	heart development	IMP
GO:0007519	skeletal muscle tissue development	IMP
GO:0007521	muscle cell fate determination	IMP
GO:0007611	learning or memory	IMP
GO:0010613	positive regulation of cardiac muscle hypertrophy	ISO
GO:0010628	positive regulation of gene expression	ISO
GO:0010628	positive regulation of gene expression	IMP
GO:0010628	positive regulation of gene expression	IDA
GO:0010629	negative regulation of gene expression	IMP
GO:0010694	positive regulation of alkaline phosphatase activity	IMP
GO:0014033	neural crest cell differentiation	IMP
GO:0014898	cardiac muscle hypertrophy in response to stress	IMP
GO:0014902	myotube differentiation	IEA
GO:0030182	neuron differentiation	IMP
GO:0030220	platelet formation	IMP
GO:0030224	monocyte differentiation	IMP
GO:0030279	negative regulation of ossification	ISS
GO:0030279	negative regulation of ossification	ISO
GO:0030318	melanocyte differentiation	IMP
GO:0030501	positive regulation of bone mineralization	IMP
GO:0030890	positive regulation of B cell proliferation	IMP
GO:0035690	cellular response to drug	IDA
GO:0035914	skeletal muscle cell differentiation	NAS
GO:0035914	skeletal muscle cell differentiation	IMP
GO:0035984	cellular response to trichostatin A	IDA
GO:0042100	B cell proliferation	IMP
GO:0043523	regulation of neuron apoptotic process	IMP
GO:0043524	negative regulation of neuron apoptotic process	IDA
GO:0043537	negative regulation of blood vessel endothelial cell migration	ISO
GO:0045165	cell fate commitment	IMP
GO:0045652	regulation of megakaryocyte differentiation	IMP
GO:0045663	positive regulation of myoblast differentiation	ISS
GO:0045663	positive regulation of myoblast differentiation	ISO
GO:0045666	positive regulation of neuron differentiation	IDA
GO:0045669	positive regulation of osteoblast differentiation	IMP
GO:0045893	positive regulation of transcription, DNA-templated	ISO
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045893	positive regulation of transcription, DNA-templated	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	ISO
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0046928	regulation of neurotransmitter secretion	IMP
GO:0048167	regulation of synaptic plasticity	IMP
GO:0048643	positive regulation of skeletal muscle tissue development	ISS
GO:0048643	positive regulation of skeletal muscle tissue development	ISO
GO:0048666	neuron development	IMP
GO:0048667	cell morphogenesis involved in neuron differentiation	IMP
GO:0048703	embryonic viscerocranium morphogenesis	IMP
GO:0048704	embryonic skeletal system morphogenesis	IMP
GO:0050680	negative regulation of epithelial cell proliferation	IMP
GO:0050853	B cell receptor signaling pathway	IMP
GO:0051145	smooth muscle cell differentiation	IMP
GO:0051963	regulation of synapse assembly	IMP
GO:0051966	regulation of synaptic transmission, glutamatergic	IMP
GO:0055007	cardiac muscle cell differentiation	IGI
GO:0055007	cardiac muscle cell differentiation	NAS
GO:0055012	ventricular cardiac muscle cell differentiation	IMP
GO:0060021	roof of mouth development	IGI
GO:0060025	regulation of synaptic activity	IMP
GO:0060045	positive regulation of cardiac muscle cell proliferation	IMP
GO:0060079	excitatory postsynaptic potential	IMP
GO:0060290	transdifferentiation	ISO
GO:0060297	regulation of sarcomere organization	IMP
GO:0060536	cartilage morphogenesis	IMP
GO:0060998	regulation of dendritic spine development	IMP
GO:0061333	renal tubule morphogenesis	IMP
GO:0071222	cellular response to lipopolysaccharide	IDA
GO:0071277	cellular response to calcium ion	IDA
GO:0071300	cellular response to retinoic acid	ISO
GO:0071363	cellular response to growth factor stimulus	ISO
GO:0071374	cellular response to parathyroid hormone stimulus	ISS
GO:0071374	cellular response to parathyroid hormone stimulus	ISO
GO:0071498	cellular response to fluid shear stress	IDA
GO:0071560	cellular response to transforming growth factor beta stimulus	ISS
GO:0071560	cellular response to transforming growth factor beta stimulus	ISO
GO:0071864	positive regulation of cell proliferation in bone marrow	IGI
GO:0072102	glomerulus morphogenesis	IMP
GO:0072160	nephron tubule epithelial cell differentiation	IMP
GO:1904706	negative regulation of vascular smooth muscle cell proliferation	ISO
GO:1904753	negative regulation of vascular associated smooth muscle cell migration	ISO
GO:1905563	negative regulation of vascular endothelial cell proliferation	ISO
GO:2000111	positive regulation of macrophage apoptotic process	IMP
GO:2000310	regulation of NMDA receptor activity	IMP
GO:2000311	regulation of AMPA receptor activity	IMP
GO:2000727	positive regulation of cardiac muscle cell differentiation	ISO
GO:2000727	positive regulation of cardiac muscle cell differentiation	IMP
GO:2000987	positive regulation of behavioral fear response	IMP
GO:2001013	epithelial cell proliferation involved in renal tubule morphogenesis	IMP
GO:2001016	positive regulation of skeletal muscle cell differentiation	ISO

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	IBA
GO:0005634	nucleus	ISO
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IC
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	ISO
GO:0005654	nucleoplasm	TAS
GO:0005737	cytoplasm	ISS
GO:0005737	cytoplasm	ISO
GO:0016528	sarcoplasm	IEA
GO:0016607	nuclear speck	ISS
GO:0016607	nuclear speck	ISO
GO:0030017	sarcomere	ISO
GO:0032991	protein-containing complex	ISS
GO:0032991	protein-containing complex	ISO
GO:0043231	intracellular membrane-bounded organelle	ISO
GO:0098794	postsynapse	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-1266738	Developmental Biology	IEA
R-MMU-525793	Myogenesis	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0010	Activator
KW-0025	Alternative splicing
KW-0053	Apoptosis
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0524	Neurogenesis
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR022102	HJURP_C
IPR033896	MADS_MEF2-like
IPR002100	TF_MADSbox
IPR036879	TF_MADSbox_sf

PROSITE

PROSITE ID	PROSITE Term
PS00350	MADS_BOX_1
PS50066	MADS_BOX_2

Pfam

Pfam ID	Pfam Term
PF12347	HJURP_C
PF00319	SRF-TF

Gene: Mef2c

Basic information

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction