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

Gene ID: 4209, updated on 21-Dec-2019

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
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (156463727..156500840, 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 CRISPRi-validated cis-regulatory element chr1.9068 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 Functions

What'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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686I1536

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
activating transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_001271629.2NP_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, ENST00000348159.9
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    156463727..156500840 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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