MEF2A

Protein identityUniProt · HPA

UniProt accession

Q02078

Gene

MEF2A

Ensembl

ENSG00000068305

Chromosome

15

Canonical length

507 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI 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 processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

507 residues, UniProt reviewed canonical sequence.

>Q02078|MEF2A
     1  MGRKKIQITR IMDERNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNS SNKLFQYAST
    61  DMDKVLLKYT EYNEPHESRT NSDIVEALNK KEHRGCDSPD PDTSYVLTPH TEEKYKKINE
   121  EFDNMMRNHK IAPGLPPQNF SMSVTVPVTS PNALSYTNPG SSLVSPSLAA SSTLTDSSML
   181  SPPQTTLHRN VSPGAPQRPP STGNAGGMLS TTDLTVPNGA GSSPVGNGFV NSRASPNLIG
   241  ATGANSLGKV MPTKSPPPPG GGNLGMNSRK PDLRVVIPPS SKGMMPPLSE EEELELNTQR
   301  ISSSQATQPL ATPVVSVTTP SLPPQGLVYS AMPTAYNTDY SLTSADLSAL QGFNSPGMLS
   361  LGQVSAWQQH HLGQAALSSL VAGGQLSQGS NLSINTNQNI SIKSEPISPP RDRMTPSGFQ
   421  QQQQQQQQQQ PPPPPQPQPQ PPQPQPRQEM GRSPVDSLSS SSSSYDGSDR EDPRGDFHSP
   481  IVLGRPPNTE DRESPSVKRM RMDAWVT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MEF2A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.67

Highest tissue expression

88 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MEF2A.

Disease | AllUniProt

Conditions MEF2A is implicated in, by any mechanism.

• Coronary artery disease, autosomal dominant, 1 (ADCAD1) MIM:608320

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 76 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Coronary artery disease, autosomal dominant, 1
• Coronary artery disease/myocardial infarction

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.29

gnomAD pLI

0.99

gnomAD missense Z

1.54

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic process
• cardiac conduction
• cell differentiation
• cellular response to calcium ion
• dendrite morphogenesis
• DNA-templated transcription
• heart development
• mitochondrion distribution
• muscle cell development
• muscle organ development
• negative regulation of transcription by RNA polymerase II
• positive regulation of cardiac muscle hypertrophy
• positive regulation of D-glucose import
• positive regulation of gene expression
• positive regulation of transcription by RNA polymerase II
• ventricular cardiac myofibril assembly

Molecular functions

• chromatin binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription factor binding
• histone acetyltransferase binding
• histone deacetylase binding
• protein heterodimerization activity
• protein kinase binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• RNA polymerase II-specific DNA-binding transcription factor binding
• sequence-specific DNA binding
• SMAD binding

Cellular components

• chromatin
• cytosol
• nucleoplasm
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Transcription factor, MADS-box
• Holliday junction regulator protein family C-terminal
• MADS MEF2-like, N-terminal
• Transcription factor, MADS-box superfamily
• SRF-type transcription factor (DNA-binding and dimerisation domain)
• Holliday junction regulator protein family C-terminal repeat

KeywordsUniProt

• Acetylation
• Activator
• Apoptosis
• Developmental protein
• Differentiation
• DNA-binding
• Isopeptide bond
• Neurogenesis
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of MEF2A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HDAC4
• HDAC7
• HDAC9
• PIAS1
• SLC2A4RG
• MAPK7
• NLK