MEF2A (myocyte enhancer factor 2A)

2008-05-01  

Identity

HGNC
MEF2A
LOCATION
15q26.3
LOCUSID
4205
ALIAS
ADCAD1,RSRFC4,RSRFC9,mef2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4205
MIM: 600660
HGNC: 6993
Ensembl: ENSG00000068305

Variants:

dbSNP: 4205
ClinVar: 4205
TCGA: ENSG00000068305
COSMIC: MEF2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000068305ENST00000338042Q02078
ENSG00000068305ENST00000338042A0A0S2Z417
ENSG00000068305ENST00000354410Q02078
ENSG00000068305ENST00000354410A0A0S2Z454
ENSG00000068305ENST00000449277Q02078
ENSG00000068305ENST00000449277A0A0S2Z4C8
ENSG00000068305ENST00000557785Q02078
ENSG00000068305ENST00000557785A0A0S2Z417
ENSG00000068305ENST00000557942Q02078
ENSG00000068305ENST00000557942A0A0S2Z4N0
ENSG00000068305ENST00000558049H0YNI2
ENSG00000068305ENST00000558812Q02078
ENSG00000068305ENST00000559903H0YKY6
ENSG00000068305ENST00000560493H0YM62

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 10 (TLR10) CascadeREACTOMER-HSA-168142
MyD88 cascade initiated on plasma membraneREACTOMER-HSA-975871
MAP kinase activation in TLR cascadeREACTOMER-HSA-450294
MAPK targets/ Nuclear events mediated by MAP kinasesREACTOMER-HSA-450282
ERK/MAPK targetsREACTOMER-HSA-198753
Toll Like Receptor 3 (TLR3) CascadeREACTOMER-HSA-168164
MyD88-independent TLR3/TLR4 cascadeREACTOMER-HSA-166166
TRIF-mediated TLR3/TLR4 signalingREACTOMER-HSA-937061
Toll Like Receptor 5 (TLR5) CascadeREACTOMER-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) CascadeREACTOMER-HSA-168181
MyD88 dependent cascade initiated on endosomeREACTOMER-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activationREACTOMER-HSA-975138
Toll Like Receptor 9 (TLR9) CascadeREACTOMER-HSA-168138
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Activated TLR4 signallingREACTOMER-HSA-166054
MyD88:Mal cascade initiated on plasma membraneREACTOMER-HSA-166058
Toll Like Receptor 2 (TLR2) CascadeREACTOMER-HSA-181438
Toll Like Receptor TLR1:TLR2 CascadeREACTOMER-HSA-168179
Toll Like Receptor TLR6:TLR2 CascadeREACTOMER-HSA-168188
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Nuclear Events (kinase and transcription factor activation)REACTOMER-HSA-198725
Developmental BiologyREACTOMER-HSA-1266738
MyogenesisREACTOMER-HSA-525793
CDO in myogenesisREACTOMER-HSA-375170
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418
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
seminal vesicle
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
230281382012Impact of an exercise intervention on DNA methylation in skeletal muscle from first-degree relatives of patients with type 2 diabetes.113
146458532003Mutation of MEF2A in an inherited disorder with features of coronary artery disease.102
206826872010Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.88
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
164697442006Myocyte enhancer factors 2A and 2C induce dilated cardiomyopathy in transgenic mice.76
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
158610052005Molecular genetics of coronary artery disease.45
253366332015Restoration of impaired endothelial myocyte enhancer factor 2 function rescues pulmonary arterial hypertension.38
125868392003Phosphorylation motifs regulating the stability and function of myocyte enhancer factor 2A.36
154964292004Transcription factor MEF2A mutations in patients with coronary artery disease.34

Citation

Dessen P

MEF2A (myocyte enhancer factor 2A)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50132/mef2a