Homo sapiens Gene: MEF2D
Summary
InnateDB Gene IDBG-103519.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MEF2D
Gene Name myocyte enhancer factor 2D
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000116604
Encoded Proteins
myocyte enhancer factor 2D
myocyte enhancer factor 2D
myocyte enhancer factor 2D
myocyte enhancer factor 2D
myocyte enhancer factor 2D
myocyte enhancer factor 2D
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:156463727-156500828
Strand Reverse strand
Band q22
Transcripts
ENST00000348159 ENSP00000271555
ENST00000368240 ENSP00000357223
ENST00000360595 ENSP00000353803
ENST00000475587 ENSP00000477413
ENST00000464356 ENSP00000476788
ENST00000493077
ENST00000489057 ENSP00000477124
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 41 [view]
Protein-Protein 39 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0033613 activating transcription factor binding
GO:0042826 histone deacetylase binding
GO:0046983 protein dimerization activity
Biological Process
GO:0001649 osteoblast differentiation
GO:0001958 endochondral ossification
GO:0002062 chondrocyte differentiation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006915 apoptotic process
GO:0007399 nervous system development
GO:0007512 adult heart development
GO:0007517 muscle organ development
GO:0035914 skeletal muscle cell differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Organelle biogenesis and maintenance pathway
Developmental Biology pathway
Circadian Clock pathway
CDO in myogenesis pathway
Mitochondrial biogenesis pathway
Myogenesis pathway
Transcriptional activation of mitochondrial biogenesis pathway
KEGG
INOH
PID BIOCARTA
Regulation of pgc-1a [Biocarta view]
Angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling [Biocarta view]
P38 mapk signaling pathway [Biocarta view]
Role of mef2d in t-cell apoptosis [Biocarta view]
Control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) [Biocarta view]
Mapkinase signaling pathway [Biocarta view]
Role of erk5 in neuronal survival pathway [Biocarta view]
Signal dependent regulation of myogenesis by corepressor mitr [Biocarta view]
PID NCI
Signaling events mediated by HDAC Class III
Role of Calcineurin-dependent NFAT signaling in lymphocytes
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.619220
RefSeq NM_001271629 NM_005920 XM_005245169 XM_005245170 XM_006711330 XM_006711331 XM_006711332 XM_006711333 XM_006711334
HUGO
OMIM
CCDS CCDS1143 CCDS60304
HPRD 02810
IMGT
EMBL
GenPept
RNA Seq Atlas