mef2ca myocyte enhancer factor 2ca [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mef2caprovided by ZNC
Official Full Name: myocyte enhancer factor 2caprovided by ZNC
Primary source: ZFIN:ZDB-GENE-980526-253
See related: Ensembl:ENSDARG00000029764 AllianceGenome:ZFIN:ZDB-GENE-980526-253
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: mef2c; zgc:64184; zgc:85726; id:ibd5026; wu:fc05b06
Summary: Enables transcription cis-regulatory region binding activity. Acts upstream of or within several processes, including ligamentous ossification; skeletal system development; and striated muscle cell development. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including brain; fin bud; musculature system; pericardial region; and pharyngeal arch. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language. Orthologous to human MEF2C (myocyte enhancer factor 2C). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 10

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	10	NC_007121.7 (43544816..43655449, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	10	NC_007121.6 (43719033..43827042, complement)

Chromosome 10 - NC_007121.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MEF2C contributes to axonal branching by regulating Kif2c transcription.
Title: MEF2C contributes to axonal branching by regulating Kif2c transcription.
mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour.
Title: mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour.
Variable paralog expression underlies phenotype variation.
Title: Variable paralog expression underlies phenotype variation.
Mef2c factors are required for early but not late addition of cardiomyocytes to the ventricle.
Title: Mef2c factors are required for early but not late addition of cardiomyocytes to the ventricle.
Strikingly, our selective breeding for low penetrance converted the mef2ca mutant allele behavior from homozygous lethal to homozygous viable. Meanwhile, selective breeding for high penetrance converted the mef2ca mutant allele from fully recessive to partially dominant.
Title: Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway.
variable transposon epigenetic silencing underlies the variable mef2ca mutant bone phenotype, and could be a widespread mechanism of phenotypic variability in animals.
Title: Ligament versus bone cell identity in the zebrafish hyoid skeleton is regulated by mef2ca.
Mef2 controls skeletal muscle formation after terminal differentiation.
Title: Mef2s are required for thick filament formation in nascent muscle fibres.
Our study provides new insights in MEF2C conservation and provides the first evidence of mef2cb regulation by both transcriptional and post transcriptional mechanisms.
Title: MEF2C orthologues from zebrafish: Evolution, expression and promoter regulation.
mef2ca transcripts including exon 5 (mef2ca 4-5-6) are present early in the embryo. Over-expression of this isoform alters the expression of genes involved in early dorso-ventral patterning of the embryo and induces severe developmental defects
Title: Distinct functions of alternatively spliced isoforms encoded by zebrafish mef2ca and mef2cb.
By selectively inhibiting translational initiation of mef2ca and other mRNAs, eIF4EBP3L reprograms the translational profile of muscle, enabling it to adjust to new environmental conditions.
Title: eIF4EBP3L acts as a gatekeeper of TORC1 in activity-dependent muscle growth by specifically regulating Mef2ca translational initiation.

Submit: New GeneRIF Correction See all GeneRIFs (13)

General gene information

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Markers

mef2c (e-PCR), detects polymorphism
- UniSTS:205569

MEF2C (e-PCR)
- UniSTS:205357

Z9701 (e-PCR)
- UniSTS:25051

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle cell development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cardiac muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ligamentous ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within 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	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle myosin thick filament assembly	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of RNA polymerase II transcription regulator complex	TAS Traceable Author Statement more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myocyte enhancer factor 2ca

Names: hoo; hoover; myocyte enhancer factor 2c; myocyte enhancer factor 2ca 4'-6'; myocyte enhancer factor 2ca delta gamma-like

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)

NM_131312.2 → NP_571387.2 myocyte enhancer factor 2ca

See identical proteins and their annotated locations for NP_571387.2

Status: PROVISIONAL

Source sequence(s)

BC059188

UniProtKB/TrEMBL

A0A8M2BGG6, Q6PCS3

Related

ENSDARP00000089908.3, ENSDART00000099134.5

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:98 → 152

HJURP_C; Holliday junction regulator protein family C-terminal repeat

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007121.7 Reference GRCz11 Primary Assembly

Range

43544816..43655449 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005169232.5 → XP_005169289.1 myocyte enhancer factor 2ca isoform X6

UniProtKB/TrEMBL

A0A8M2BGJ3

Related

ENSDARP00000088204.4, ENSDART00000097433.6

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:98 → 152

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_009305681.4 → XP_009303956.1 myocyte enhancer factor 2ca isoform X5

UniProtKB/TrEMBL

A0A8M3AX72

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:98 → 152

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_005169229.5 → XP_005169286.1 myocyte enhancer factor 2ca isoform X1

See identical proteins and their annotated locations for XP_005169286.1

UniProtKB/TrEMBL

A0A8M3B3N7

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:98 → 152

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_005169228.5 → XP_005169285.1 myocyte enhancer factor 2ca isoform X2

See identical proteins and their annotated locations for XP_005169285.1

UniProtKB/TrEMBL

A0A8M2BGG6, Q6PCS3

Related

ENSDARP00000113573.1, ENSDART00000131731.3

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:98 → 152

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_009305677.4 → XP_009303952.1 myocyte enhancer factor 2ca isoform X1

See identical proteins and their annotated locations for XP_009303952.1

UniProtKB/TrEMBL

A0A8M3B3N7

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:98 → 152

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_009305680.4 → XP_009303955.1 myocyte enhancer factor 2ca isoform X3

See identical proteins and their annotated locations for XP_009303955.1

UniProtKB/TrEMBL

A0A8M3AX99

Conserved Domains (2) summary

cd00265
Location:1 → 67

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:87 → 141

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_009305679.4 → XP_009303954.1 myocyte enhancer factor 2ca isoform X4

See identical proteins and their annotated locations for XP_009303954.1

UniProtKB/TrEMBL

A0A8M3AX99

Conserved Domains (2) summary

cd00265
Location:1 → 67

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:87 → 141

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_068223723.1 → XP_068079824.1 myocyte enhancer factor 2ca isoform X7