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MEF2D myocyte enhancer factor 2D [ Homo sapiens (human) ]

Gene ID: 4209, updated on 7-Dec-2018

Summary

Official Symbol
MEF2Dprovided by HGNC
Official Full Name
myocyte enhancer factor 2Dprovided by HGNC
Primary source
HGNC:HGNC:6997
See related
Ensembl:ENSG00000116604 MIM:600663
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Ubiquitous expression in bone marrow (RPKM 18.8), brain (RPKM 15.5) and 25 other tissues See more
Orthologs

Genomic context

See MEF2D in Genome Data Viewer
Location:
1q22
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (156463721..156500842, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156433513..156470634, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Rh family B glycoprotein (gene/pseudogene) Neighboring gene chromosome 1 open reading frame 61 Neighboring gene microRNA 9-1 Neighboring gene IQ motif containing GTPase activating protein 3 Neighboring gene tetratricopeptide repeat domain 24

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Apelin signaling pathway, organism-specific biosystem (from KEGG)
    Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
  • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    B Cell Receptor Signaling Pathway, organism-specific biosystemThe functional B-cell receptor is a multi-protein complex consisting of an antigen binding subunit and a signaling subunit. The antigen binding subunit is the membrane bound immunoglobulin and the si...
  • CDO in myogenesis, organism-specific biosystem (from REACTOME)
    CDO in myogenesis, organism-specific biosystemCDO/Cdon (cell-adhesion-molecule-related/downregulated by oncogenes) is a type I transmembrane multifunctional co-receptor consisting of five immunoglobulin and three fibronectin type III (FNIII) rep...
  • Cell Differentiation - Index, organism-specific biosystem (from WikiPathways)
    Cell Differentiation - Index, organism-specific biosystemProteins and miRNAs associated with major cell type differentiation pathways.
  • Circadian Clock, organism-specific biosystem (from REACTOME)
    Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
  • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
  • Myogenesis, organism-specific biosystem (from REACTOME)
    Myogenesis, organism-specific biosystemMyogenesis, the formation of muscle tissue, is a complex process involving steps of cell proliferation mediated by growth factor signaling, cell differentiation, reorganization of cells to form myotu...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Role of Calcineurin-dependent NFAT signaling in lymphocytes, organism-specific biosystem (from Pathway Interaction Database)
    Role of Calcineurin-dependent NFAT signaling in lymphocytes, organism-specific biosystem
    Role of Calcineurin-dependent NFAT signaling in lymphocytes
  • SRF and miRs in Smooth Muscle Differentiation and Proliferation, organism-specific biosystem (from WikiPathways)
    SRF and miRs in Smooth Muscle Differentiation and Proliferation, organism-specific biosystemSmooth muscle cells exhibit a unique plasticity, in that they are able to oscillate between proliferative and more quiescent, differentiated states. These two states are determined, in part, by a net...
  • Signaling events mediated by HDAC Class III, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by HDAC Class III, organism-specific biosystem
    Signaling events mediated by HDAC Class III
  • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • miRs in Muscle Cell Differentiation, organism-specific biosystem (from WikiPathways)
    miRs in Muscle Cell Differentiation, organism-specific biosystem
    miRs in Muscle Cell Differentiation
  • p38 MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
    p38 MAPK Signaling Pathway, organism-specific biosystemp38 MAPKs are members of the MAPK family that are activated by a variety of environmental stresses and inflammatory cytokines. Stress signals are delivered to this cascade by members of small GTPases...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686I1536

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adult heart development IEP
Inferred from Expression Pattern
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
endochondral ossification IEA
Inferred from Electronic Annotation
more info
 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of vascular smooth muscle cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
myocyte-specific enhancer factor 2D
Names
MADS box transcription enhancer factor 2, polypeptide D

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001271629.1NP_001258558.1  myocyte-specific enhancer factor 2D isoform 2

    See identical proteins and their annotated locations for NP_001258558.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon and splice site in the 5' UTR, and lacks an internal in-frame exon in the coding region, compared to variant 1. The resulting isoform (2, also known as hMEF2Da0), is shorter than isoform 1.
    Source sequence(s)
    AL139412, BC040949, R42560
    Consensus CDS
    CCDS60304.1
    UniProtKB/Swiss-Prot
    Q14814
    Related
    ENSP00000353803.3, ENST00000360595.7
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:98152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  2. NM_005920.4NP_005911.1  myocyte-specific enhancer factor 2D isoform 1

    See identical proteins and their annotated locations for NP_005911.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1, also known as hMEF2Dab).
    Source sequence(s)
    AL139412, BC054520, DC377787, R42560
    Consensus CDS
    CCDS1143.1
    UniProtKB/Swiss-Prot
    Q14814
    Related
    ENSP00000271555.5, ENST00000348159.8
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    156463721..156500842 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711332.3XP_006711395.1  myocyte-specific enhancer factor 2D isoform X2

    UniProtKB/Swiss-Prot
    Q14814
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:96151
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  2. XM_006711334.3XP_006711397.1  myocyte-specific enhancer factor 2D isoform X4

    UniProtKB/Swiss-Prot
    Q14814
    Related
    ENSP00000476788.1, ENST00000464356.6
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:96151
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  3. XM_006711333.2XP_006711396.1  myocyte-specific enhancer factor 2D isoform X3

    See identical proteins and their annotated locations for XP_006711396.1

    UniProtKB/Swiss-Prot
    Q14814
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:98152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  4. XM_005245169.4XP_005245226.1  myocyte-specific enhancer factor 2D isoform X1

    See identical proteins and their annotated locations for XP_005245226.1

    UniProtKB/Swiss-Prot
    Q14814
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  5. XM_017001315.1XP_016856804.1  myocyte-specific enhancer factor 2D isoform X3

    UniProtKB/Swiss-Prot
    Q14814
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:98152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  6. XM_006711330.3XP_006711393.1  myocyte-specific enhancer factor 2D isoform X1

    See identical proteins and their annotated locations for XP_006711393.1

    UniProtKB/Swiss-Prot
    Q14814
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  7. XM_005245170.3XP_005245227.1  myocyte-specific enhancer factor 2D isoform X1

    See identical proteins and their annotated locations for XP_005245227.1

    UniProtKB/Swiss-Prot
    Q14814
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  8. XM_011509569.3XP_011507871.1  myocyte-specific enhancer factor 2D isoform X1

    See identical proteins and their annotated locations for XP_011507871.1

    UniProtKB/Swiss-Prot
    Q14814
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  9. XM_017001314.1XP_016856803.1  myocyte-specific enhancer factor 2D isoform X3

    UniProtKB/Swiss-Prot
    Q14814
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:98152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat

RNA

  1. XR_001737184.1 RNA Sequence

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