MEF2B - myocyte enhancer factor 2B Gene

Homo sapiens

Also known as RSRFR2

Gene ID: 100271849 | Gene type: protein coding

About MEF2B

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,145,567-19,170,263 (from NCBI)

This gene has 5 transcripts (splice variants), 192 orthologues and 4 paralogues. Broad expression in lymph node (RPKM 18.6), appendix (RPKM 7.2) and 17 other tissues.

Summary

The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle Myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207. [provided by RefSeq, Jan 2014]

MEF2B Products(2)

mRNA	Protein	Name
NM_001145785.2	NP_001139257.1	myocyte-specific enhancer factor 2B isoform 1
NM_001367282.1	NP_001354211.1	myocyte-specific enhancer factor 2B isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	7760790	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	7760790	GOA
enables histone deacetylase binding	IPI IPI: Inferred from physical interaction	15567413	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12700764	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	7760790	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of transcription regulator complex	IDA IDA: Inferred from direct assay	15567413	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MEF2B Protein Structure

SRF-TF

0
100
200
300
368 a.a.

Protein Preferred Names

Protein Names

myocyte-specific enhancer factor 2B

MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B)

MEF2B Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MEF2B	Q02080	CABIN1	Homo sapiens	Q9Y6J0	Anti Tag CoIP	28514442
Intra	MEF2B	Q02080	CABIN1	Homo sapiens	Q9Y6J0	Anti Tag CoIP	12700764
Intra	MEF2B	Q02080	CABIN1	Homo sapiens	Q9Y6J0	Pull Down	12700764
Intra	MEF2B	Q02080	CABIN1	Homo sapiens	Q9Y6J0	Anti Tag CoIP	33961781
Intra	MEF2B	Q02080	TEKT4	Homo sapiens	Q8WW24	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Ezb Diffuse Large B-Cell Lymphoma

Ezb Dlbcl

Doid:0081065

St2 Diffuse Large B-Cell Lymphoma

St2 Dlbcl

Doid:0081068

Brachydactyly, Type E1

Brachydactyly Type E1	Brachydactyly Type E
BDE1	Brachydactyly, Type E
Bde	Type E Brachydactyly
Brachydactyly E1	Brachydactyly Syndrome Type E

Mcd Diffuse Large B-Cell Lymphoma

Mcd Dlbcl

Doid:0081066

High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit

Hgbl-Dh/Th	High Grade B-Cell Lymphoma With Myc And Bcl2 Or Bcl6 Rearrangements
High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08310	MEF2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MEF2B	RGD	RGD:1561733
Mus musculus	MEF2B	MGD	MGI:104526
Felis catus	MEF2B	VGNC	VGNC:102637
Canis familiaris	MEF2B	VGNC	VGNC:108250

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