MEF2B (myocyte enhancer factor 2B)

2011-10-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
RSRFR2
FUSION GENES

Other Information

Locus ID:

NCBI: 100271849
MIM: 600661
HGNC: 6995
Ensembl: ENSG00000213999

Variants:

dbSNP: 100271849
ClinVar: 100271849
TCGA: ENSG00000213999
COSMIC: MEF2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213999ENST00000409224B3KQ23
ENSG00000213999ENST00000409447B8ZZJ5
ENSG00000213999ENST00000410050C9J4J4
ENSG00000213999ENST00000424583Q02080
ENSG00000213999ENST00000424583A0A024R7K5
ENSG00000213999ENST00000444486Q02080
ENSG00000213999ENST00000444486A0A024R7N0

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
Developmental BiologyREACTOMER-HSA-1266738
MyogenesisREACTOMER-HSA-525793
CDO in myogenesisREACTOMER-HSA-375170
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
217961192011Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.506
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
239749562013MEF2B mutations lead to deregulated expression of the oncogene BCL6 in diffuse large B cell lymphoma.52
127007642003Sequence-specific recruitment of transcriptional co-repressor Cabin1 by myocyte enhancer factor-2.40
155674132005Mechanism of recruitment of class II histone deacetylases by myocyte enhancer factor-2.38
150846022004Membrane hyperpolarization triggers myogenin and myocyte enhancer factor-2 expression during human myoblast differentiation.26
264685282016Identification of MEF2B, EBF1, and IL6R as Direct Gene Targets of Epstein-Barr Virus (EBV) Nuclear Antigen 1 Critical for EBV-Infected B-Lymphocyte Survival.23
165040372006Cooperation between MEF2 and PPARgamma in human intestinal beta,beta-carotene 15,15'-monooxygenase gene expression.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
190932152009Galpha13 regulates MEF2-dependent gene transcription in endothelial cells: role in angiogenesis.8

Citation

Dessen P

MEF2B (myocyte enhancer factor 2B)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52402/mef2b-(myocyte-enhancer-factor-2b)