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Mef2a myocyte enhancer factor 2A [ Mus musculus (house mouse) ]

Gene ID: 17258, updated on 28-Oct-2024

Summary

Official Symbol
Mef2aprovided by MGI
Official Full Name
myocyte enhancer factor 2Aprovided by MGI
Primary source
MGI:MGI:99532
See related
Ensembl:ENSMUSG00000030557 AllianceGenome:MGI:99532
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
A430079H05Rik
Summary
Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein kinase binding activity. Involved in several processes, including mitochondrion organization; positive regulation of macromolecule biosynthetic process; and ventricular cardiac myofibril assembly. Acts upstream of or within positive regulation of D-glucose import and positive regulation of DNA-templated transcription. Located in chromatin and nucleus. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in dilated cardiomyopathy. Orthologous to human MEF2A (myocyte enhancer factor 2A). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in heart adult (RPKM 19.7), frontal lobe adult (RPKM 17.9) and 28 other tissues See more
Orthologs
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Genomic context

See Mef2a in Genome Data Viewer
Location:
7 C; 7 36.72 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (66880911..67026435, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (67231163..67376456, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700112J16 gene Neighboring gene STARR-positive B cell enhancer ABC_E4933 Neighboring gene LysM, putative peptidoglycan-binding, domain containing 4 Neighboring gene STARR-seq mESC enhancer starr_19095 Neighboring gene STARR-seq mESC enhancer starr_19096 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:74557695-74557804 Neighboring gene STARR-positive B cell enhancer ABC_E3725 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:74565953-74566106 Neighboring gene STARR-positive B cell enhancer ABC_E3726 Neighboring gene predicted gene, 51462 Neighboring gene predicted gene, 33926

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IC
Inferred by Curator
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables SMAD binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
 
enables histone acetyltransferase binding ISO
Inferred from Sequence Orthology
more info
 
enables histone acetyltransferase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables histone deacetylase binding ISO
Inferred from Sequence Orthology
more info
 
enables histone deacetylase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in ERK5 cascade ISO
Inferred from Sequence Orthology
more info
 
involved_in ERK5 cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in MAPK cascade ISO
Inferred from Sequence Orthology
more info
 
involved_in MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cellular response to calcium ion ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in dendrite morphogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitochondrial genome maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrion distribution IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of D-glucose import IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cardiac muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cardiac muscle hypertrophy ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ventricular cardiac myofibril assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IC
Inferred by Curator
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 
part_of transcription regulator complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
myocyte-specific enhancer factor 2A

NCBI Reference Sequences (RefSeq)

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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_001033713.2NP_001028885.1  myocyte-specific enhancer factor 2A isoform a

    See identical proteins and their annotated locations for NP_001028885.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the canonical isoform (a). Variants 1 and 7 both encode the same isoform (a).
    Source sequence(s)
    AC120123, AC158751, AI849762, AK052385, AK132678, AK136368, BC061128
    Consensus CDS
    CCDS39981.1
    UniProtKB/Swiss-Prot
    Q3V155, Q4VA09, Q60929, Q6P8Q3
    Related
    ENSMUSP00000117496.2, ENSMUST00000156690.8
    Conserved Domains (2) summary
    COG5068
    Location:1235
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    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 ...
  2. NM_001291191.2NP_001278120.1  myocyte-specific enhancer factor 2A isoform b

    See identical proteins and their annotated locations for NP_001278120.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons and contains another alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AC120123, AC158751, AI849762
    Consensus CDS
    CCDS71979.1
    UniProtKB/Swiss-Prot
    Q60929
    Related
    ENSMUSP00000032776.9, ENSMUST00000032776.15
    Conserved Domains (3) 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 ...
    pfam11597
    Location:129238
    Med13_N; Mediator complex subunit 13 N-terminal
    pfam12347
    Location:98152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  3. NM_001291192.1NP_001278121.1  myocyte-specific enhancer factor 2A isoform b

    See identical proteins and their annotated locations for NP_001278121.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks two alternate in-frame exons, and contains another alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AC158751, AI849762, AK132678, AK136368, AK153751
    Consensus CDS
    CCDS71979.1
    UniProtKB/Swiss-Prot
    Q60929
    Related
    ENSMUSP00000075664.6, ENSMUST00000076325.12
    Conserved Domains (3) 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 ...
    pfam11597
    Location:129238
    Med13_N; Mediator complex subunit 13 N-terminal
    pfam12347
    Location:98152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  4. NM_001291195.1NP_001278124.1  myocyte-specific enhancer factor 2A isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC158751, AI849762, AK052385, AK132678, AK136368
    Consensus CDS
    CCDS71980.1
    UniProtKB/Swiss-Prot
    Q60929
    Related
    ENSMUSP00000103100.2, ENSMUST00000107476.8
    Conserved Domains (2) summary
    COG5068
    Location:1235
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    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 ...
  5. NM_001291196.1NP_001278125.1  myocyte-specific enhancer factor 2A isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate exon, lacks an alternate in-frame exon, and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and lacks an internal segment compared to variant 1.
    Source sequence(s)
    AC158751, AI849762, AK052385, AK132678, AK136368
    UniProtKB/Swiss-Prot
    Q60929
  6. NM_001357324.1NP_001344253.1  myocyte-specific enhancer factor 2A isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon and contains another alternate in-frame exon compared to variant 1. The resulting isoform (e) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC120123, AC158751, AI849762
    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:97151
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  7. NM_001357325.1NP_001344254.1  myocyte-specific enhancer factor 2A isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1, and encodes isoform a. Variants 1 and 7 both encode the same isoform (a).
    Source sequence(s)
    AC120123, AC158751, AI849762
    Consensus CDS
    CCDS39981.1
    UniProtKB/Swiss-Prot
    Q3V155, Q4VA09, Q60929, Q6P8Q3
    Conserved Domains (2) summary
    COG5068
    Location:1235
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    66880911..67026435 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036152740.1XP_036008633.1  myocyte-specific enhancer factor 2A isoform X5

  2. XM_036152735.1XP_036008628.1  myocyte-specific enhancer factor 2A isoform X2

    UniProtKB/Swiss-Prot
    Q3V155, Q4VA09, Q60929, Q6P8Q3
    Conserved Domains (2) summary
    COG5068
    Location:1235
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    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 ...
  3. XM_030242191.2XP_030098051.1  myocyte-specific enhancer factor 2A isoform X3

    Conserved Domains (2) summary
    COG5068
    Location:1235
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    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 ...
  4. XM_036152738.1XP_036008631.1  myocyte-specific enhancer factor 2A isoform X3

    Conserved Domains (2) summary
    COG5068
    Location:1235
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    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 ...
  5. XM_036152736.1XP_036008629.1  myocyte-specific enhancer factor 2A isoform X2

    UniProtKB/Swiss-Prot
    Q3V155, Q4VA09, Q60929, Q6P8Q3
    Related
    ENSMUSP00000138566.2, ENSMUST00000135493.8
    Conserved Domains (2) summary
    COG5068
    Location:1235
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    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 ...
  6. XM_036152739.1XP_036008632.1  myocyte-specific enhancer factor 2A isoform X4

  7. XM_036152734.1XP_036008627.1  myocyte-specific enhancer factor 2A isoform X1

    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:97151
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  8. XM_006540684.5XP_006540747.1  myocyte-specific enhancer factor 2A isoform X1

    See identical proteins and their annotated locations for XP_006540747.1

    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:97151
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  9. XM_036152737.1XP_036008630.1  myocyte-specific enhancer factor 2A isoform X1

    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:97151
    HJURP_C; Holliday junction regulator protein family C-terminal repeat