MEF2D myocyte enhancer factor 2D [Homo sapiens] - Gene

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Summary

Official Symbol: MEF2Dprovided by HGNC
Official Full Name: myocyte enhancer factor 2Dprovided by HGNC
Primary source: HGNC:6997
Locus tag: RP11-98G7.2
See related: Ensembl:ENSG00000116604; HPRD:02810; MIM:600663; Vega:OTTHUMG00000033095
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DKFZp686I1536

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Genomic context

Location :: 1q12-q23

Sequence :: Chromosome: 1; NC_000001.10 (156433519..156470529, complement)

See MEF2D in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

direct regulation of complex I by mitochondrial MEF2D underlies its neuroprotective effects, and dysregulation of this pathway may contribute to Parkinson disease
Title: Direct regulation of complex I by mitochondrial MEF2D is disrupted in a mouse model of Parkinson disease and in human patients.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
MEF2A and MEF2D play dual roles in human macrophages differentiation, as activators and as repressors of c-jun transcription.
Title: Dual roles for MEF2A and MEF2D during human macrophage terminal differentiation and c-Jun expression.
ZAC1 is a novel and previously unknown regulator of cardiomyocyte Glut4 expression and glucose uptake; MEF2 is a regulator of ZAC1 expression in response to induction of hypertrophy
Title: Regulation of cardiomyocyte Glut4 expression by ZAC1.
MEF2 proteins are an important component in Galpha13-mediated angiogenesis.
Title: Galpha13 regulates MEF2-dependent gene transcription in endothelial cells: role in angiogenesis.
MEF2D levels were increased in the brains patients with Parkinson's disease
Title: Regulation of neuronal survival factor MEF2D by chaperone-mediated autophagy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
These results reveal an unexpected role for HDAC3 and suggest a novel pathway through which MEF2 activity is controlled in vivo.
Title: Histone deacetylase 3 interacts with and deacetylates myocyte enhancer factor 2.
histone deacetylase 4- and SIRT1 deacetylase-mediated lysine modifications regulate MEF2
Title: Regulation of MEF2 by histone deacetylase 4- and SIRT1 deacetylase-mediated lysine modifications.

Submit: New GeneRIF Correction See all (12)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_005911.1	NP_036427.1	CABIN1	BIND	PubMed	MEF2D interacts with CABIN1.
Q14814	Q9Y6J0	CABIN1	HPRD	PubMed
Q14814	P55210	CASP7	HPRD	PubMed
Q14814	Q09472	EP300	HPRD	PubMed
Q14814	P56524	HDAC4	HPRD	PubMed
Q14814	Q9UQL6	HDAC5	HPRD	PubMed
Q14814	Q13164	MAPK7	HPRD	PubMed
Q14814	Q02078	MEF2A	HPRD	PubMed
Q14814	Q06413	MEF2C	HPRD	PubMed
Q14814	Q14814	MEF2D	HPRD	PubMed
Q14814	Q13469	NFATC2	HPRD	PubMed
Q14814	P08047	SP1	HPRD	PubMed
Q14814	P27348	YWHAQ	HPRD	PubMed
BioGRID:110373	BioGRID:114528	ASH2L	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:117070	CABIN1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110373	BioGRID:115760	CARM1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110373	BioGRID:116183	COPS5	BioGRID	PubMed	Two-hybrid
BioGRID:110373	BioGRID:108347	EP300	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:114368	HDAC3	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:110373	BioGRID:115106	HDAC4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:113141	HIRA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:114375	KAT2B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:107819	MAPK14	BioGRID	PubMed	Two-hybrid
BioGRID:110373	BioGRID:111584	MAPK7	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid
BioGRID:110373	BioGRID:110369	MEF2A	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:110373	BioGRID:110384	MEN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:113758	MLL2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:110846	NFATC2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110373	BioGRID:111553	PRKACA	BioGRID	PubMed	Biochemical Activity
BioGRID:110373	BioGRID:115688	PRMT5	BioGRID	PubMed	Reconstituted Complex
BioGRID:110373	BioGRID:111864	RBBP5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:117594	SENP3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:112506	SNCA	BioGRID	PubMed	Reconstituted Complex
BioGRID:110373	BioGRID:112550	SP1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110373	BioGRID:113188	SUMO1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110373	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:110373	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110373	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
RNA polymerase II regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info
activating transcription factor binding	IPI Inferred from Physical Interaction more info
histone deacetylase binding	IPI Inferred from Physical Interaction more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein dimerization activity	IEA Inferred from Electronic Annotation more info
protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
protein homodimerization activity	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding RNA polymerase II transcription factor activity	IDA Inferred from Direct Assay more info
sequence-specific DNA binding transcription factor activity	NAS Non-traceable Author Statement 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 organismal development	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 from RNA polymerase II promoter	IDA Inferred from Direct Assay more info
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	NAS Non-traceable Author Statement more info	PubMed
transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info

Component	Evidence Code	Pubs
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: myocyte-specific enhancer factor 2D

Names: myocyte-specific enhancer factor 2D; MEF2D/DAZAP1 fusion; MADS box transcription enhancer factor 2, polypeptide D (myocyte enhancer factor 2D); myocyte enhancer factor 2D/deleted in azoospermia associated protein 1 fusion protein

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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)

NM_005920.2 → NP_005911.1 myocyte-specific enhancer factor 2D

Status: PROVISIONAL

Source sequence(s)

BC054520

Consensus CDS

CCDS1143.1

UniProtKB/Swiss-Prot

Q14814

Related

ENSP00000271555, OTTHUMP00000031810, ENST00000348159, OTTHUMT00000080562

Conserved Domains (2) summary

cd00265
Location:2 – 78
Blast Score: 324

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:95 – 155
Blast Score: 131

HJURP_C; Holliday junction regulator protein family C-terminal repeat

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

156433519..156470529, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

127793590..127830485, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL139412.10	CAI17184.1
		CAI17185.1
		CAI17186.1
genomic	AL365181.24 (2000..11872)	None
genomic	CH471121.2	EAW52948.1
		EAW52949.1
		EAW52950.1
		EAW52951.1
		EAW52952.1
genomic	HI574186.1	CBX47582.1
genomic	L16795.1	AAA59579.1
mRNA	AB210005.1	BAE06087.1
mRNA	AF086193.1	None
mRNA	AK027180.1	None
mRNA	AK056972.1	None
mRNA	AK308641.1	None
mRNA	AK310187.1	None
mRNA	BC018985.2	None
mRNA	BC032479.1	AAH32479.1
mRNA	BC040949.1	AAH40949.1
mRNA	BC054520.1	AAH54520.1
mRNA	BX640792.1	None
mRNA	BX647226.1	None
mRNA	L16794.1	AAA93194.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q05BX2	GenPept	UniProtKB/TrEMBL:Q05BX2
Q14814.1	GenPept	UniProtKB/Swiss-Prot:Q14814
Q4LE66	GenPept	UniProtKB/TrEMBL:Q4LE66
Q5IRN4	GenPept	UniProtKB/TrEMBL:Q5IRN4
Q5T9U4	GenPept	UniProtKB/TrEMBL:Q5T9U4