MEF2C (myocyte enhancer factor 2C)

2008-05-01  

Identity

HGNC
MEF2C
LOCATION
5q14.3
LOCUSID
4208
ALIAS
C5DELq14.3,DEL5q14.3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4208
MIM: 600662
HGNC: 6996
Ensembl: ENSG00000081189

Variants:

dbSNP: 4208
ClinVar: 4208
TCGA: ENSG00000081189
COSMIC: MEF2C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081189ENST00000340208Q06413
ENSG00000081189ENST00000424173Q06413
ENSG00000081189ENST00000437473Q06413
ENSG00000081189ENST00000437473A0A024RAL7
ENSG00000081189ENST00000502831D6RJA7
ENSG00000081189ENST00000502983D6RCM6
ENSG00000081189ENST00000503075D6RG14
ENSG00000081189ENST00000503554A0A0D9SGF3
ENSG00000081189ENST00000504921Q06413
ENSG00000081189ENST00000504921A0A024RAL7
ENSG00000081189ENST00000506554D6RJG6
ENSG00000081189ENST00000506716D6R942
ENSG00000081189ENST00000507984D6RB91
ENSG00000081189ENST00000508569Q06413
ENSG00000081189ENST00000508569A0A024RAL6
ENSG00000081189ENST00000508610D6RG21
ENSG00000081189ENST00000509373D6RJ95
ENSG00000081189ENST00000510942A0A0R4J2G5
ENSG00000081189ENST00000513252D6RC63
ENSG00000081189ENST00000514015Q06413
ENSG00000081189ENST00000514028Q06413
ENSG00000081189ENST00000625585A0A0D9SGI5
ENSG00000081189ENST00000625674Q06413
ENSG00000081189ENST00000626391D8L7E9
ENSG00000081189ENST00000627170A0A0D9SG58
ENSG00000081189ENST00000627659A0A0D9SFD0
ENSG00000081189ENST00000627717A0A0D9SFV9
ENSG00000081189ENST00000628656Q06413
ENSG00000081189ENST00000629612Q06413
ENSG00000081189ENST00000629612A0A024RAL6
ENSG00000081189ENST00000631026A0A0D9SET2
ENSG00000081189ENST00000635898A0A1B0GVI4
ENSG00000081189ENST00000636294Q06413
ENSG00000081189ENST00000636294A0A024RAL7
ENSG00000081189ENST00000636541A0A1B0GTW4
ENSG00000081189ENST00000636998Q06413
ENSG00000081189ENST00000637481A0A1B0GV32
ENSG00000081189ENST00000637732Q06413

Expression (GTEx)

0
10
20
30
40
50
60
70
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
MAPK signaling pathwayKEGGko04010
MAPK signaling pathwayKEGGhsa04010
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201
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
Circadian ClockREACTOMER-HSA-400253
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
274799092016Identification of 15 genetic loci associated with risk of major depression in individuals of European descent.170
242903592013Isogenic human iPSC Parkinson's model shows nitrosative stress-induced dysfunction in MEF2-PGC1α transcription.145
214817902011Integrated transcript and genome analyses reveal NKX2-1 and MEF2C as potential oncogenes in T cell acute lymphoblastic leukemia.124
179033022007Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.108
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
254161332015Stoichiometry of Gata4, Mef2c, and Tbx5 influences the efficiency and quality of induced cardiac myocyte reprogramming.68
195923902010MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.57
210608632010Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.57
158314632005Myocyte enhancer factor 2 acetylation by p300 enhances its DNA binding activity, transcriptional activity, and myogenic differentiation.55

Citation

Dessen P

MEF2C (myocyte enhancer factor 2C)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50136/mef2c-(myocyte-enhancer-factor-2c)