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

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 chromatin binding activity. Involved in several processes, including mitochondrion organization; positive regulation of macromolecule metabolic process; and ventricular cardiac myofibril assembly. Acts upstream of or within positive regulation of glucose import and positive regulation of transcription, DNA-templated. Located in chromatin and nucleus. Is expressed in several structures, including brain; cardiovascular system; embryo mesenchyme; genitourinary system; 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, Apr 2022]
Expression: Ubiquitous expression in heart adult (RPKM 19.7), frontal lobe adult (RPKM 17.9) and 28 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FoxP1 Represses MEF2A in Striated Muscle.
Title: FoxP1 Represses MEF2A in Striated Muscle.
Evolutionary conserved circular MEF2A RNAs regulate myogenic differentiation and skeletal muscle development.
Title: Evolutionary conserved circular MEF2A RNAs regulate myogenic differentiation and skeletal muscle development.
Myocyte Enhancer Factor 2A Contributes to the TGF-beta1-Mediated Cholangiocyte Epithelial to Mesenchymal Transition and Senescence in Cholestatic Liver Fibrosis.
Title: Myocyte Enhancer Factor 2A Contributes to the TGF-β1-Mediated Cholangiocyte Epithelial to Mesenchymal Transition and Senescence in Cholestatic Liver Fibrosis.
Activation of a hippocampal CREB-pCREB-miRNA-MEF2 axis modulates individual variation of spatial learning and memory capability.
Title: Activation of a hippocampal CREB-pCREB-miRNA-MEF2 axis modulates individual variation of spatial learning and memory capability.
Cyclic AMP represses pathological MEF2 activation by myocyte-specific hypo-phosphorylation of HDAC5.
Title: Cyclic AMP represses pathological MEF2 activation by myocyte-specific hypo-phosphorylation of HDAC5.
Loss of myocyte enhancer factor 2 expression in osteoclasts leads to opposing skeletal phenotypes.
Title: Loss of myocyte enhancer factor 2 expression in osteoclasts leads to opposing skeletal phenotypes.
Histone methyltransferase MLL4 controls myofiber identity and muscle performance through MEF2 interaction.
Title: Histone methyltransferase MLL4 controls myofiber identity and muscle performance through MEF2 interaction.
Chromatin Environment and Cellular Context Specify Compensatory Activity of Paralogous MEF2 Transcription Factors.
Title: Chromatin Environment and Cellular Context Specify Compensatory Activity of Paralogous MEF2 Transcription Factors.
Results showed that miR-155 regulated MEF2A expression in cardiac stem cells (CSCs) under both the normal and hypoxia conditions and further, changing the expression of MEF2A affected the role of miR-155.
Title: MALAT1 promoted cell proliferation and migration via MALAT1/miR-155/MEF2A pathway in hypoxia of cardiac stem cells.
cerebellar long-term synaptic depression requires postsynaptic activation of MEF2.
Title: A Late Phase of Long-Term Synaptic Depression in Cerebellar Purkinje Cells Requires Activation of MEF2.

Submit: New GeneRIF Correction See all GeneRIFs (59)

Variation

Go to the top of the page Help

Alleles

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

Targeted (3) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

MARC_27533-27534:1035232725:1 (e-PCR)
- UniSTS:269114

Mef2a (e-PCR), detects polymorphism
- UniSTS:265599

Mef2a (e-PCR), detects polymorphism
- UniSTS:265600

Mef2a (e-PCR), detects polymorphism
- UniSTS:265601

NoName (e-PCR)
- UniSTS:235688

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	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-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables SMAD binding	ISO Inferred from Sequence Orthology 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 deacetylase binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone deacetylase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization 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	ISO Inferred from Sequence Orthology more info
involved_in ERK5 cascade	ISO Inferred from Sequence Orthology more info
involved_in MAPK cascade	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within 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 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
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of glucose import	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
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: myocyte-specific enhancer factor 2A

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

NM_001033713.2 → NP_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:1 → 235

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

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 ...
NM_001291191.2 → NP_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:2 → 78

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:129 → 238

Med13_N; Mediator complex subunit 13 N-terminal

pfam12347
Location:98 → 152

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001291192.1 → NP_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:2 → 78

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:129 → 238

Med13_N; Mediator complex subunit 13 N-terminal

pfam12347
Location:98 → 152

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001291195.1 → NP_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:1 → 235

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

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 ...
NM_001291196.1 → NP_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
NM_001357324.1 → NP_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:2 → 78

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:97 → 151

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001357325.1 → NP_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:1 → 235

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

66880911..67026435 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152740.1 → XP_036008633.1 myocyte-specific enhancer factor 2A isoform X5
XM_036152735.1 → XP_036008628.1 myocyte-specific enhancer factor 2A isoform X2

UniProtKB/Swiss-Prot

Q3V155, Q4VA09, Q60929, Q6P8Q3

Conserved Domains (2) summary

COG5068
Location:1 → 235

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

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 ...
XM_030242191.2 → XP_030098051.1 myocyte-specific enhancer factor 2A isoform X3

Conserved Domains (2) summary

COG5068
Location:1 → 235

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

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 ...
XM_036152738.1 → XP_036008631.1 myocyte-specific enhancer factor 2A isoform X3

Conserved Domains (2) summary

COG5068
Location:1 → 235

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

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 ...
XM_036152736.1 → XP_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:1 → 235

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

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 ...
XM_036152739.1 → XP_036008632.1 myocyte-specific enhancer factor 2A isoform X4
XM_036152734.1 → XP_036008627.1 myocyte-specific enhancer factor 2A isoform X1

Conserved Domains (2) summary

cd00265
Location:2 → 78

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:97 → 151

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_006540684.5 → XP_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:2 → 78

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:97 → 151

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

Conserved Domains (2) summary

cd00265
Location:2 → 78

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:97 → 151

HJURP_C; Holliday junction regulator protein family C-terminal repeat