MEF2D - myocyte enhancer factor 2D Gene

Homo sapiens

Gene ID: 4209 | Gene type: protein coding

About MEF2D

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,463,727-156,500,775 (from NCBI)

This gene has 6 transcripts (splice variants), 253 orthologues and 4 paralogues. Ubiquitous expression in bone marrow (RPKM 18.8), brain (RPKM 15.5) and 25 other tissues.

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]

MEF2D Products(2)

mRNA	Protein	Name
NM_001271629.2	NP_001258558.1	myocyte-specific enhancer factor 2D isoform 2
NM_005920.4	NP_005911.1	myocyte-specific enhancer factor 2D isoform 1

MEF2D Protein Structure

SRF-TF

HJURP_C

0
100
200
300
400
521 a.a.

Protein Preferred Names

Protein Names

myocyte-specific enhancer factor 2D

MADS box transcription enhancer factor 2, polypeptide D

Related Diseases

Diseases

Alias

Migraine Without Aura

Common Migraine	Migraine With Or Without Aura, Susceptibility To
Migraine Without Aura, Susceptibility To	Acute Migraine Without Aura

Brachydactyly, Type E1

Brachydactyly Type E1	Brachydactyly Type E
BDE1	Brachydactyly, Type E
Bde	Type E Brachydactyly
Brachydactyly E1	Brachydactyly Syndrome Type E

Burkitt Lymphoma

Burkitt'S Lymphoma	BL
Burkitt Lymphoma, Somatic	Burkitt Lymphoma/Leukaemia
Burkitt'S Tumor	Burkitt'S Tumor Or Lymphoma
Malignant Lymphoma, Burkitt'S Type	Small Non-Cleaved Cell Lymphoma, Burkitt'S Type
Small Non-Cleaved Cell Lymphoma	Burkitt Tumor
Burkitts Lymphoma	Lymphoma, Small Noncleaved-Cell
Burkitt Tumour	Diffuse Small Noncleaved Malignant Burkitt Lymphoma
Malignant Burkitt Lymphoma	“Burkitt-Like” Lymphoma
Undifferentiated Burkitt Lymphoma	Small Noncleaved Cell Burkitt Lymphoma

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-128341	ERK5-IN-2	Inhibitor	98.97%	Unkown
HY-139254	Indirubin-3′-oxime	Inhibitor	99.49%	Unkown
HY-RS08312	MEF2D Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MEF2D	MGD	MGI:99533
Canis familiaris	MEF2D	VGNC	VGNC:43145
Bos taurus	MEF2D	VGNC	VGNC:31374
Macaca mulatta	MEF2D	VGNC	VGNC:74699
Rattus norvegicus	MEF2D	RGD	RGD:621489
Felis catus	MEF2D	VGNC	VGNC:68230

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