MEF2B

BORCS8-MEF2B
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1N6J, 1TQE
Identifiers
Aliases	BORCS8-MEF2B, LOC729991-MEF2B, MEF2B, MEF2BNB-MEF2B, BORCS8-MEF2B readthrough
External IDs	GeneCards: BORCS8-MEF2B
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • histone deacetylase binding • protein dimerization activity • RNA polymerase II regulatory region sequence-specific DNA binding Cellular component • nucleus • transcription factor complex Biological process • muscle organ development • regulation of transcription, DNA-templated • transcription, DNA-templated • transcription from RNA polymerase II promoter • positive regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4207	n/a
Ensembl	ENSG00000064489	n/a
UniProt	Q02080	n/a
RefSeq (mRNA)	NM_005919	n/a
RefSeq (protein)	NP_001139257 NP_005910.1	n/a
Location (UCSC)	Chr 19: 19.15 – 19.19 Mb	n/a
PubMed search		n/a

1N6J, 1TQE

4207

n/a

ENSG00000064489

n/a

Q02080

n/a

NM_005919

n/a

NP_001139257
NP_005910.1

n/a

Myocyte enhancer binding factor 2B (MEF2B) is a transcription factor part of the MEF2 gene family including MEF2A, MEF2C, and MEF2D. However, MEF2B is distant from the other three branches of MEF2 genes as it lacks the protein-coding Holliday junction recognition protein C-terminal (HJURP_C) region in vertebrates.

The MEF2 gene family is expressed in muscle-specific gene activation and maintenance during development. MEF2B mRNA is present in skeletal, smooth, brain and heart muscles. MEF2B is directly involved in smooth muscle myosin heavy chain (SMHC) gene regulation. Overexpression of MEF2B will activate the SMHC promoter in smooth muscle when it is bound to the A/T-rich element of the promoter.

MEF2B has been shown to interact with CABIN1.

Recurrent mutations in this gene have been associated with cases of diffuse large B-cell lymphoma. In its mutated form, MEF2B can lead to deregulation of the proto-oncogene BCL6 expression in diffuse large B-cell lymphomas (DLBCL). Mutations of MEF2B enhance its transcriptional activity due to either a disruption with its corepressor CABIN1 or causing the gene to become insensitive to inhibitory signaling events.

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