InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-103521

myocyte enhancer factor 2D

IDBP-103527

myocyte enhancer factor 2D

IDBP-103531

myocyte enhancer factor 2D

IDBP-813782

myocyte enhancer factor 2D

IDBP-813781

myocyte enhancer factor 2D

IDBP-813783

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