MEF2B myocyte enhancer factor 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: MEF2Bprovided by HGNC
Official Full Name: myocyte enhancer factor 2Bprovided by HGNC
Primary source: HGNC:HGNC:6995
See related: Ensembl:ENSG00000213999 MIM:600661; AllianceGenome:HGNC:6995
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RSRFR2
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]
Expression: Broad expression in lymph node (RPKM 18.6), appendix (RPKM 7.2) and 17 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19p13.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (19145567..19170263, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19282103..19306796, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19256376..19281072, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MEF2B C-terminal mutations enhance transcriptional activity and stability to drive B cell lymphomagenesis.
Title: MEF2B C-terminal mutations enhance transcriptional activity and stability to drive B cell lymphomagenesis.
The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Title: The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Systematic transition modeling analysis in the MEF2B-DNA binding interface due to Y69H and K4E variants.
Title: Systematic transition modeling analysis in the MEF2B-DNA binding interface due to Y69H and K4E variants.
Crystal Structures of Ternary Complexes of MEF2 and NKX2-5 Bound to DNA Reveal a Disease Related Protein-Protein Interaction Interface.
Title: Crystal Structures of Ternary Complexes of MEF2 and NKX2-5 Bound to DNA Reveal a Disease Related Protein-Protein Interaction Interface.
Landscape of DNA binding signatures of myocyte enhancer factor-2B reveals a unique interplay of base and shape readout.
Title: Landscape of DNA binding signatures of myocyte enhancer factor-2B reveals a unique interplay of base and shape readout.
Convergent Evidence From Humans and Drosophila melanogaster Implicates the Transcription Factor MEF2B/Mef2 in Alcohol Sensitivity.
Title: Convergent Evidence From Humans and Drosophila melanogaster Implicates the Transcription Factor MEF2B/Mef2 in Alcohol Sensitivity.
expression of MEF2B in mantle cell lymphomas is related to the pathological subtypes
Title: [Expression of myocyte enhancer factor 2B in mantle cell lymphoma and its clinical significance].
Studied expression of myocyte enhancer factor 2B (MEF2B) as part of the diffuse large (DLBCL) B-cell lymphoma 6 (BCL6) transcription complex in diffuse large B-cell lymphoma tissue samples and cell lines. Findings indicate MEF2B to be an essential component of the BCL6 gene transcriptional complex for the regulation of DLBCL growth thru promotion of BCL6 expression.
Title: MEF2B is a member of the BCL6 gene transcriptional complex and induces its expression in diffuse large B-cell lymphoma of the germinal center B-cell-like type.
Mef2b deletion reduces germinal center (GC) formation in mice and identify MEF2B transcriptional targets in GC, with roles in cell proliferation, apoptosis, GC confinement, and differentiation. The most common lymphoma-associated MEF2B mutant (MEF2BD83V) is hypomorphic yet escapes binding and negative regulation by components of the HUCA complex and class IIa HDACs.
Title: MEF2B Instructs Germinal Center Development and Acts as an Oncogene in B Cell Lymphomagenesis.
Although the mechanisms by which the D83V mutation in MEF2B promote oncogenesis in lymphoma cells remain to be elucidated, the observation that a mutation hotspot coincides with a conformation switch site on MEF2B reflects a remarkable convergence of tumor growth selection pressure and the physical/ chemical forces behind protein folding.
Title: The Cancer Mutation D83V Induces an α-Helix to β-Strand Conformation Switch in MEF2B.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Readthrough BORCS8-MEF2B

Readthrough gene: BORCS8-MEF2B, Included gene: BORCS8

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone deacetylase binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: myocyte-specific enhancer factor 2B

Names: MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B); serum response factor-like protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001145785.2 → NP_001139257.1 myocyte-specific enhancer factor 2B isoform 1

See identical proteins and their annotated locations for NP_001139257.1

Status: VALIDATED

Source sequence(s)

AC002126, AI499707, DA488022

Consensus CDS

CCDS46024.1

UniProtKB/TrEMBL

C9J4J4

Related

ENSP00000402154.2, ENST00000424583.7

Conserved Domains (1) 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 ...
NM_001367282.1 → NP_001354211.1 myocyte-specific enhancer factor 2B isoform 2

Status: VALIDATED

Source sequence(s)

AC002126

UniProtKB/Swiss-Prot

A0AV80, B4DVH7, B7ZVY1, G5E9M1, Q02080

UniProtKB/TrEMBL

H3BNR1

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 ...

cl26464
Location:123 → 364

Atrophin-1; Atrophin-1 family