MEF2B

Myocyte enhancer binding factor 2B (MEF2B) is a transcription factor part of the MEF2 gene family including MEF2A, MEF2C, and MEF2D.^[2][3] 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.^[4]

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, RSRFR2
External IDs	GeneCards: BORCS8-MEF2B; OMA:BORCS8-MEF2B - orthologs
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific histone deacetylase binding protein dimerization activity RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus transcription regulator complex Biological process muscle organ development regulation of transcription, DNA-templated transcription, DNA-templated transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II 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_001354211 NP_005910.1 n/a Location (UCSC) n/a n/a PubMed search [1] n/a
Wikidata
View/Edit Human

Functions

The MEF2 gene family is expressed in muscle-specific gene activation and maintenance during development.^[4][5] MEF2B mRNA is present in skeletal, smooth, brain and heart muscles.^[6] 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.^[6]

Interactions

MEF2B has been shown to interact with CABIN1.^[7][8]

Clinical relevance

Recurrent mutations in this gene have been associated with cases of diffuse large B-cell lymphoma.^[9] In its mutated form, MEF2B can lead to deregulation of the proto-oncogene BCL6 expression in diffuse large B-cell lymphomas (DLBCL).^[10] 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.^[10]

See also

• Mef2