MEF2D - myocyte enhancer factor 2D Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4209

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
20590529 GOA
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
20590529 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
20590529 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
16043483 GOA
enables histone deacetylase binding IPI
IPI: Inferred from physical interaction
20590529 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21030595 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in adult heart development IEP
IEP: Inferred from expression pattern
10458488 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
20590529 GOA
involved in positive regulation of vascular associated smooth muscle cell proliferation IGI
IGI: Inferred from genetic interaction
29118903 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
20590529 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MEF2D Protein Structure

SRF-TF

SRF-TF: SRF-type transcription factor (DNA-binding and dimerisation domain) (10 - 59)

HJURP_C

HJURP_C: Holliday junction regulator protein family C-terminal repeat (95 - 154)

  • 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

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-128341 ERK5-IN-2 Inhibitor 98.45% Unkown
HY-139254 Indirubin-3′-oxime 99.10% Unkown
HY-RS08312 MEF2D Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17303 Mef2d Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23758 Mef2d Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others MEF2D NCBI