Seroatlas · Human Serome Atlas

MEF2C

Myocyte-specific enhancer factor 2C

Also known as: MEF2C_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q06413
Gene
MEF2C
Ensembl
ENSG00000081189
Chromosome
5
Canonical length
473 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Vesicles

OverviewNCBI Gene

This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

473 residues, UniProt reviewed canonical sequence.

>Q06413|MEF2C
     1  MGRKKIQITR IMDERNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNS TNKLFQYAST
    61  DMDKVLLKYT EYNEPHESRT NSDIVETLRK KGLNGCDSPD PDADDSVGHS PESEDKYRKI
   121  NEDIDLMISR QRLCAVPPPN FEMPVSIPVS SHNSLVYSNP VSSLGNPNLL PLAHPSLQRN
   181  SMSPGVTHRP PSAGNTGGLM GGDLTSGAGT SAGNGYGNPR NSPGLLVSPG NLNKNMQAKS
   241  PPPMNLGMNN RKPDLRVLIP PGSKNTMPSV SEDVDLLLNQ RINNSQSAQS LATPVVSVAT
   301  PTLPGQGMGG YPSAISTTYG TEYSLSSADL SSLSGFNTAS ALHLGSVTGW QQQHLHNMPP
   361  SALSQLGACT STHLSQSSNL SLPSTQSLNI KSEPVSPPRD RTTTPSRYPQ HTRHEAGRSP
   421  VDSLSSCSSS YDGSDREDHR NEFHSPIGLT RPSPDERESP SVKRMRLSEG WAT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MEF2C 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
522 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 522 nTPM
  • tongue: 231 nTPM
  • cerebral cortex: 122 nTPM
  • tonsil: 73 nTPM
  • lymph node: 59 nTPM
  • placenta: 43 nTPM

Single-cell type

  • myonuclei: 3,221 nCPM
  • microglia: 2,881 nCPM
  • b-cells: 1,114 nCPM
  • thymic myoid cells: 727 nCPM
  • plasma cells: 713 nCPM
  • megakaryocyte progenitors: 707 nCPM

Immune cell

  • naive B-cell: 189 nTPM
  • memory B-cell: 142 nTPM
  • plasmacytoid DC: 100 nTPM
  • myeloid DC: 95 nTPM
  • intermediate monocyte: 83 nTPM
  • classical monocyte: 72 nTPM

Brain region

  • cerebral cortex: 269 nTPM
  • basal ganglia: 224 nTPM
  • white matter: 141 nTPM
  • amygdala: 93 nTPM
  • spinal cord: 66 nTPM
  • hippocampal formation: 64 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MEF2C.

Disease | AllUniProt

Conditions MEF2C is implicated in, by any mechanism.

  • Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (NEDHSIL) MIM:613443

Disease | GeneticClinVar

123 pathogenic / likely-pathogenic of 621 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.61
gnomAD pLI
0.02
gnomAD missense Z
3.95
DepMap mean gene effect
-0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MEF2C in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MEF2C as an antibody target. Whether an autoantibody or antibody against MEF2C could matter depends on whether native MEF2C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MEF2C is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MEF2C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MEF2C. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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