Property Summary

NCBI Gene PubMed Count 127
PubMed Score 164.87
PubTator Score 146.87

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
periodontitis 269 5.30104003284986E-27
non-small cell lung cancer 2798 9.69211220230616E-12
ovarian cancer 8492 6.65932750650057E-10
Breast cancer 3099 8.53886058702708E-9
malignant mesothelioma 3163 2.50343918299431E-8
atypical teratoid / rhabdoid tumor 4369 3.23365207845156E-8
medulloblastoma 1524 6.50056270039702E-8
glioblastoma 5572 2.33192943789139E-5
primary Sjogren syndrome 789 2.66016154639461E-5
lung cancer 4473 6.60015350607793E-5
active ulcerative colitis 477 1.65034798053015E-4
medulloblastoma, large-cell 6234 2.25720688057136E-4
psoriasis 6685 2.36480483753185E-4
invasive ductal carcinoma 2950 7.49605489169973E-4
primitive neuroectodermal tumor 3031 9.38722714396479E-4
ependymoma 2514 0.00110925418899925
nephrosclerosis 329 0.00121527771728503
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00131805998697274
astrocytic glioma 2241 0.00155642007566211
dermatomyositis 967 0.00177563787765194
active Crohn's disease 918 0.00253729586789241
pediatric high grade glioma 2712 0.00301227506585512
nasopharyngeal carcinoma 1056 0.00315380608500773
pilocytic astrocytoma 3086 0.00810839019603724
osteosarcoma 7933 0.008504104932612
colon cancer 1475 0.00872152253418499
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0110538799654338
oligodendroglioma 2849 0.0120855451366964
Waldenstrons macroglobulinemia 765 0.0177121240794706
gastric cancer 436 0.020344857272882
Parkinson's disease 364 0.0282068847444062
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Intellectual disability 573 3.702 1.9
Epilepsy 346 3.082 1.5

Expression

  Differential Expression (31)

Disease log2 FC p
nephrosclerosis 1.229 0.001
gastric cancer -1.100 0.020
Waldenstrons macroglobulinemia -1.046 0.018
malignant mesothelioma -2.500 0.000
astrocytic glioma -2.800 0.002
ependymoma -3.300 0.001
oligodendroglioma -2.400 0.012
psoriasis -2.000 0.000
glioblastoma -3.700 0.000
osteosarcoma 1.541 0.009
medulloblastoma -5.000 0.000
periodontitis 1.100 0.000
atypical teratoid / rhabdoid tumor -4.800 0.000
medulloblastoma, large-cell -4.900 0.000
primitive neuroectodermal tumor -3.400 0.001
non-small cell lung cancer -1.339 0.000
intraductal papillary-mucinous carcinoma... -2.600 0.001
intraductal papillary-mucinous neoplasm ... -2.200 0.011
lung cancer -3.000 0.000
colon cancer -1.700 0.009
active Crohn's disease -1.420 0.003
active ulcerative colitis -2.862 0.000
Parkinson's disease -1.200 0.028
pediatric high grade glioma -2.300 0.003
pilocytic astrocytoma -1.800 0.008
primary Sjogren syndrome 2.100 0.000
nasopharyngeal carcinoma -1.400 0.003
Breast cancer -1.400 0.000
invasive ductal carcinoma -1.500 0.001
ovarian cancer -3.000 0.000
dermatomyositis -1.700 0.002

Synonym

Accession Q06413 C9JMZ0 D7F7N5 F8W7V7
Symbols DEL5q14.3
C5DELq14.3

Gene

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

Gene RIF (70)

PMID Text
26900922 early B cell factor-1 (EBF1) was identified as a co-regulator of gene expression with MEF2C.
26487643 Data show that high myocyte enhancer factor 2C (MEF2C) mRNA expression leads to overexpression of MEF2C protein, and these findings provide the rationale for therapeutic targeting of MEF2C transcriptional activation in acute myeloid leukemia.
26426104 The finding of a jugular pit in this patient facilitated the diagnosis, and he is, to our knowledge, the third case of jugular pit in association with 5q14.3 deletion incorporating the MEF2C locus.
26184978 MiR-135b-5p and MiR-499a-3p Promote Cell Proliferation and Migration in Atherosclerosis by Directly Targeting MEF2C
26172269 BCL2 inhibitors may be a therapeutic candidate in vivo for patients with ETP-ALL with high expression levels of MEF2C.
25789873 MEF2C regulates the expression of G2/M checkpoint genes (14-3-3gamma, Gadd45b and p21) and the sub-cellular localization of CYCLIN B1.
25733682 MEF2C and MEF2D interact with the E3 ligase F-box protein SKP2, which mediates their subsequent degradation through the ubiquitin-proteasome system.
25691421 this is the first report of a Greek-Cypriot patient with a MEF2C-related phenotype highlighting the rich variability in phenotypic expression and the ethnic diversity associated with this condition.
25416133 Combinations that resulted in higher protein levels of Mef2c enhanced reprogramming efficiency of cardiac myocytes.
25404735 Alternative splicing of the alpha-exon of MEF2C regulates myogenesis.
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AA Sequence

MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSTNKLFQYASTDMDKVLLKYT      1 - 70
EYNEPHESRTNSDIVETLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLCAVPPPN     71 - 140
FEMPVSIPVSSHNSLVYSNPVSSLGNPNLLPLAHPSLQRNSMSPGVTHRPPSAGNTGGLMGGDLTSGAGT    141 - 210
SAGNGYGNPRNSPGLLVSPGNLNKNMQAKSPPPMNLGMNNRKPDLRVLIPPGSKNTMPSVSEDVDLLLNQ    211 - 280
RINNSQSAQSLATPVVSVATPTLPGQGMGGYPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGW    281 - 350
QQQHLHNMPPSALSQLGACTSTHLSQSSNLSLPSTQSLNIKSEPVSPPRDRTTTPSRYPQHTRHEAGRSP    351 - 420
VDSLSSCSSSYDGSDREDHRNEFHSPIGLTRPSPDERESPSVKRMRLSEGWAT                     421 - 473
//

Text Mined References (132)

PMID Year Title
26900922 2016 MEF2C and EBF1 Co-regulate B Cell-Specific Transcription.
26487643 2015 High expression of myocyte enhancer factor 2C (MEF2C) is associated with adverse-risk features and poor outcome in pediatric acute myeloid leukemia: a report from the Children's Oncology Group.
26426104 2016 Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding.
26184978 2015 MiR-135b-5p and MiR-499a-3p Promote Cell Proliferation and Migration in Atherosclerosis by Directly Targeting MEF2C.
26172269 2015 BCL2 Inhibitor (ABT-737): A Restorer of Prednisolone Sensitivity in Early T-Cell Precursor-Acute Lymphoblastic Leukemia with High MEF2C Expression?
25789873 2015 Phosphorylation-dependent degradation of MEF2C contributes to regulate G2/M transition.
25733682 2015 The control operated by the cell cycle machinery on MEF2 stability contributes to the downregulation of CDKN1A and entry into S phase.
25691421 2015 Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25416133 2015 Stoichiometry of Gata4, Mef2c, and Tbx5 influences the efficiency and quality of induced cardiac myocyte reprogramming.
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