Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4205
Gene name Gene Name - the full gene name approved by the HGNC.
Myocyte enhancer factor 2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MEF2A
Synonyms (NCBI Gene) Gene synonyms aliases
ADCAD1, RSRFC4, RSRFC9, mef2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ADCAD1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121918529 C>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs121918530 A>G Likely-benign, pathogenic Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs121918531 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000391 hsa-miR-1-3p Luciferase reporter assay 19188439
MIRT000391 hsa-miR-1-3p Review 19815577
MIRT000391 hsa-miR-1-3p qRT-PCR 21169019
MIRT016730 hsa-miR-335-5p Microarray 18185580
MIRT020561 hsa-miR-155-5p Reporter assay;Other 20584899
Transcription factors
Transcription factor Regulation Reference
HDAC4 Repression 17179159
HDAC4 Unknown 10748098
HDAC5 Repression 15194749
HDAC5 Unknown 10748098
HDAC7 Repression 11585834
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000002 Process Mitochondrial genome maintenance ISS
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 16484498
GO:0000165 Process MAPK cascade IDA 9858528
GO:0000785 Component Chromatin ISA
GO:0000785 Component Chromatin ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600660 6993 ENSG00000068305
Protein
UniProt ID Q02078
Protein name Myocyte-specific enhancer factor 2A (Serum response factor-like protein 1)
Protein function Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular function
PDB 1C7U , 1EGW , 1LEW , 3KOV , 3MU6 , 3P57 , 6BYY , 6BZ1 , 7XUZ
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 90 154 Holliday junction regulator protein family C-terminal repeat Domain
Tissue specificity TISSUE SPECIFICITY: Isoform MEF2 and isoform MEFA are expressed only in skeletal and cardiac muscle and in the brain. Isoform RSRFC4 and isoform RSRFC9 are expressed in all tissues examined. {ECO:0000269|PubMed:1516833, ECO:0000269|PubMed:1748287}.
Sequence
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSSNKLFQYAST
DMDKVLLKYTEYNEPHESRTNSDIVEALNKKEHRGCDSPDPDTSYVLTPHTEEKYKKINE
EFDNMMRNHKIAPGLPPQNFSMSVTVPVTSPNAL
SYTNPGSSLVSPSLAASSTLTDSSML
SPPQTTLHRNVSPGAPQRPPSTGNAGGMLSTTDLTVPNGAGSSPVGNGFVNSRASPNLIG
ATGANSLGKVMPTKSPPPPGGGNLGMNSRKPDLRVVIPPSSKGMMPPLSEEEELELNTQR
ISSSQATQPLATPVVSVTTPSLPPQGLVYSAMPTAYNTDYSLTSADLSALQGFNSPGMLS
LGQVSAWQQHHLGQAALSSLVAGGQLSQGSNLSINTNQNISIKSEPISPPRDRMTPSGFQ
QQQQQQQQQQPPPPPQPQPQPPQPQPRQEMGRSPVDSLSSSSSSYDGSDREDPRGDFHSP
IVLGRPPNTEDRESPSVKRMRMDAWVT
Sequence length 507
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  cGMP-PKG signaling pathway
Apelin signaling pathway
Parathyroid hormone synthesis, secretion and action
Fluid shear stress and atherosclerosis
  Myogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537
Hypercholesterolemia Hypercholesterolemia rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034
View all (1161 more)
Hypertension Hypertensive disease rs13306026
Metabolic syndrome NON RARE IN EUROPE: Metabolic syndrome rs367643250, rs587777380, rs777736953
Unknown
Disease term Disease name Evidence References Source
Myocardial infarction Myocardial Infarction ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 29482603, 31182679
Atrial Fibrillation Associate 35756425
Behcet Syndrome Associate 31223615
Breast Neoplasms Associate 23159930
Carcinogenesis Associate 40281485
Carcinoma Hepatocellular Associate 25087096
Carcinoma Non Small Cell Lung Associate 40589937
Cardiomyopathy Hypertrophic Associate 32531470
Coronary Artery Disease Associate 15496429, 15841183, 15958500, 16195615, 25366733, 26415812, 27221044, 27455246, 31182679
Coronary Artery Disease Autosomal Dominant 1 Associate 15958500, 27221044