• Gene id: 4205

Gene Summary

• Gene Symbol: MEF2A   Gene   UCSC   Ensembl
• Aliases: ADCAD1, RSRFC4, RSRFC9, mef2
• Gene name: myocyte enhancer factor 2A
• Alternate names: myocyte-specific enhancer factor 2A, MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A), serum response factor-like protein 1,
• Gene location: 15q26.3 (99565546: 99716487)     Exons: 21     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular
• OMIM: 600660

Protein Summary

• Protein general information: Q02078  
  • Name: Myocyte specific enhancer factor 2A (Serum response factor like protein 1)
  • Length: 507  
  • Mass: 54,811
• Sequence:

  MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSSNKLFQYASTDMDKVLLKYTEYNEP
  HESRTNSDIVEALNKKEHRGCDSPDPDTSYVLTPHTEEKYKKINEEFDNMMRNHKIAPGLPPQNFSMSVTVPVTS
  PNALSYTNPGSSLVSPSLAASSTLTDSSMLSPPQTTLHRNVSPGAPQRPPSTGNAGGMLSTTDLTVPNGAGSSPV
  GNGFVNSRASPNLIGATGANSLGKVMPTKSPPPPGGGNLGMNSRKPDLRVVIPPSSKGMMPPLSEEEELELNTQR
  ISSSQATQPLATPVVSVTTPSLPPQGLVYSAMPTAYNTDYSLTSADLSALQGFNSPGMLSLGQVSAWQQHHLGQA
  ALSSLVAGGQLSQGSNLSINTNQNISIKSEPISPPRDRMTPSGFQQQQQQQQQQQPPPPPQPQPQPPQPQPRQEM
  GRSPVDSLSSSSSSYDGSDREDPRGDFHSPIVLGRPPNTEDRESPSVKRMRMDAWVT

• Structural information:
  • Protein Domains: MADS-box. (3-57)
  • Interpro: IPR022102  IPR033896  IPR002100  IPR036879  
  • Prosite: PS00350 PS50066
  • CDD: cd00265
  • PDB: 1C7U 1EGW 1LEW 3KOV 3MU6 3P57 6BYY 6BZ1
  • PDBsum: 1C7U 1EGW 1LEW 3KOV 3MU6 3P57 6BYY 6BZ1
  • DIP: 40711
  • STRING: ENSP00000346389
• Other Databases: GeneCards:  MEF2A  Malacards:  MEF2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000002	mitochondrial genome maintenance	ISS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000165	MAPK cascade	IDA	biological process
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001105	RNA polymerase II transcription coactivator activity	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0007507	heart development	IEP	biological process
GO:0007517	muscle organ development	NAS	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0033613	activating transcription factor binding	IPI	molecular function
GO:0035035	histone acetyltransferase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046332	SMAD binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0048311	mitochondrion distribution	ISS	biological process
GO:0048813	dendrite morphogenesis	ISS	biological process
GO:0051149	positive regulation of muscle cell differentiation	TAS	biological process
GO:0055005	ventricular cardiac myofibril assembly	ISS	biological process
GO:0061337	cardiac conduction	ISS	biological process
GO:0070375	ERK5 cascade	IMP	biological process
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000002	mitochondrial genome maintenance	IEA	biological process
GO:0000002	mitochondrial genome maintenance	ISS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000165	MAPK cascade	IDA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001105	RNA polymerase II transcription coactivator activity	IDA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006351	transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007507	heart development	IEP	biological process
GO:0007517	muscle organ development	NAS	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0033613	activating transcription factor binding	IEA	molecular function
GO:0033613	activating transcription factor binding	IPI	molecular function
GO:0035035	histone acetyltransferase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046332	SMAD binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048311	mitochondrion distribution	IEA	biological process
GO:0048311	mitochondrion distribution	ISS	biological process
GO:0048813	dendrite morphogenesis	ISS	biological process
GO:0051149	positive regulation of muscle cell differentiation	TAS	biological process
GO:0055005	ventricular cardiac myofibril assembly	IEA	biological process
GO:0055005	ventricular cardiac myofibril assembly	ISS	biological process
GO:0061337	cardiac conduction	IEA	biological process
GO:0061337	cardiac conduction	ISS	biological process
GO:0070375	ERK5 cascade	IMP	biological process
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000002	mitochondrial genome maintenance	ISS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000165	MAPK cascade	IDA	biological process
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001105	RNA polymerase II transcription coactivator activity	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IDA	biological process
GO:0007507	heart development	IEP	biological process
GO:0007517	muscle organ development	NAS	biological process
GO:0033613	activating transcription factor binding	IPI	molecular function
GO:0035035	histone acetyltransferase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046332	SMAD binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0048311	mitochondrion distribution	ISS	biological process
GO:0048813	dendrite morphogenesis	ISS	biological process
GO:0051149	positive regulation of muscle cell differentiation	TAS	biological process
GO:0055005	ventricular cardiac myofibril assembly	ISS	biological process
GO:0061337	cardiac conduction	ISS	biological process
GO:0070375	ERK5 cascade	IMP	biological process
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa05418	Fluid shear stress and atherosclerosis

Diseases

Associated diseases	References
Myocardial Infarction	GAD: 15496429
Coronary heart disease	KEGG: H01742
Cardiovascular disease	GAD: 15496429
Atherosclerosis	GAD: 15841183
Blood pressure	GAD: 15043778
Hypertension	GAD: 20086047
Insulin resistance	GAD: 18249389
Diabetes	GAD: 20682687
Bone diseases	GAD: 19453261
Polycystic ovary syndrome (PCOS)	INFBASE: 18249389
Leydig cell dysfunction	MIK: 26019261
Leydig cell dysfunction	MIK: 26019261
Leydig cell function	MIK: 26019261
Male reproduction	MIK: 26019261
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26019261	Leydig cell function, Male reproduction				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray