MEF2B (myocyte enhancer factor 2B)

2011-10-01  

Identity

HGNC
MEF2B
LOCATION
19p13.11
LOCUSID
100271849
ALIAS
RSRFR2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
344188742021Systematic transition modeling analysis in the MEF2B-DNA binding interface due to Y69H and K4E variants.0
355281922021The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.5
344188742021Systematic transition modeling analysis in the MEF2B-DNA binding interface due to Y69H and K4E variants.0
355281922021The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.5
319145332020[Expression of myocyte enhancer factor 2B in mantle cell lymphoma and its clinical significance].1
326818402020Crystal Structures of Ternary Complexes of MEF2 and NKX2-5 Bound to DNA Reveal a Disease Related Protein-Protein Interaction Interface.1
327380452020Landscape of DNA binding signatures of myocyte enhancer factor-2B reveals a unique interplay of base and shape readout.11
319145332020[Expression of myocyte enhancer factor 2B in mantle cell lymphoma and its clinical significance].1
326818402020Crystal Structures of Ternary Complexes of MEF2 and NKX2-5 Bound to DNA Reveal a Disease Related Protein-Protein Interaction Interface.1
327380452020Landscape of DNA binding signatures of myocyte enhancer factor-2B reveals a unique interplay of base and shape readout.11
304467172019MEF2B 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.6
312417652019Convergent Evidence From Humans and Drosophila melanogaster Implicates the Transcription Factor MEF2B/Mef2 in Alcohol Sensitivity.4
304467172019MEF2B 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.6
312417652019Convergent Evidence From Humans and Drosophila melanogaster Implicates the Transcription Factor MEF2B/Mef2 in Alcohol Sensitivity.4
293092992018Comparison of Myocyte Enhancer Factor 2B Versus Other Germinal Center-associated Antigens in the Differential Diagnosis of B-Cell Non-Hodgkin Lymphomas.3

Citation

Dessen P

MEF2B (myocyte enhancer factor 2B)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52402/gene-fusions/haematological-explorer/teaching-explorer/hgnc