Gene Gene information from NCBI Gene database.
Entrez ID 4205
Gene name Myocyte enhancer factor 2A
Gene symbol MEF2A
Synonyms (NCBI Gene)
ADCAD1RSRFC4RSRFC9mef2
Chromosome 15
Chromosome location 15q26.3
Summary 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.
3
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.
344
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 factors information provided by TRRUST V2 database.
7
Transcription factor Regulation Reference
HDAC4 Repression 17179159
HDAC4 Unknown 10748098
HDAC5 Repression 15194749
HDAC5 Unknown 10748098
HDAC7 Repression 11585834
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 16484498
GO:0000165 Process MAPK cascade IDA 9858528
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISA
GO:0000785 Component Chromatin ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600660 6993 ENSG00000068305
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Coronary artery disease, autosomal dominant, 1 Pathogenic rs1297176531 RCV000009504
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coronary artery disease/myocardial infarction Pathogenic rs121918529, rs121918531 RCV000009505
RCV000009507
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MEF2A-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Medulloblastoma Medulloblastoma BEFREE 15994942
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29482603, 31182679 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 17112666
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 26921792
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31124391
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31124391
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 35756425 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 19109909, 30699340
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 23260144, 31129473
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet disease Pubtator 31223615 Associate
★☆☆☆☆
Found in Text Mining only