MEF2D

Protein identityUniProt · HPA

UniProt accession

Q14814

Gene

MEF2D

Ensembl

ENSG00000116604

Chromosome

1

Canonical length

521 aa

Protein class

Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Vesicles

OverviewNCBI Gene

This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

Canonical amino-acid sequenceUniProt

521 residues, UniProt reviewed canonical sequence.

>Q14814|MEF2D
     1  MGRKKIQIQR ITDERNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNH SNKLFQYAST
    61  DMDKVLLKYT EYNEPHESRT NADIIETLRK KGFNGCDSPE PDGEDSLEQS PLLEDKYRRA
   121  SEELDGLFRR YGSTVPAPNF AMPVTVPVSN QSSLQFSNPS GSLVTPSLVT SSLTDPRLLS
   181  PQQPALQRNS VSPGLPQRPA SAGAMLGGDL NSANGACPSP VGNGYVSARA SPGLLPVANG
   241  NSLNKVIPAK SPPPPTHSTQ LGAPSRKPDL RVITSQAGKG LMHHLTEDHL DLNNAQRLGV
   301  SQSTHSLTTP VVSVATPSLL SQGLPFSSMP TAYNTDYQLT SAELSSLPAF SSPGGLSLGN
   361  VTAWQQPQQP QQPQQPQPPQ QQPPQPQQPQ PQQPQQPQQP PQQQSHLVPV SLSNLIPGSP
   421  LPHVGAALTV TTHPHISIKS EPVSPSRERS PAPPPPAVFP AARPEPGDGL SSPAGGSYET
   481  GDRDDGRGDF GPTLGLLRPA PEPEAEGSAV KRMRLDTWTL K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MEF2D 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)

0.69

Highest tissue expression

158 nTPM

Expression across tissuesHPA

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)

0.24

gnomAD pLI

1

gnomAD missense Z

2.25

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult heart development
• apoptotic process
• cell differentiation
• muscle organ development
• nervous system development
• positive regulation of transcription by RNA polymerase II
• positive regulation of vascular associated smooth muscle cell proliferation

Molecular functions

• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription factor binding
• histone deacetylase binding
• protein dimerization activity
• 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 double-stranded DNA binding

Cellular components

• chromatin
• nucleoplasm
• nucleus

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 MEF2D in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CCAR2
• HDAC3
• HDAC4
• MAPK7
• MYOG
• MAPK14