Property Summary

NCBI Gene PubMed Count 458
Grant Count 652
R01 Count 334
Funding $107,570,774.79
PubMed Score 1827.63
PubTator Score 1277.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 1.100 0.000
osteosarcoma -1.314 0.000
astrocytoma 1.100 0.014
medulloblastoma, large-cell -1.100 0.002
adult high grade glioma -1.200 0.000
non primary Sjogren syndrome sicca 1.100 0.023
subependymal giant cell astrocytoma -2.026 0.005

Synonym

Accession P51608 O15233 Q6QHH9 Q7Z384 MeCp-2 protein
Symbols RS
RTS
RTT
PPMX
MRX16
MRX79
MRXSL
AUTSX3
MRXS13

Gene

PANTHER Protein Class (2)

PDB

1QK9   3C2I   5BT2  

Gene RIF (423)

PMID Text
27064487 Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.
26944080 revealed a genotype-specific effect of methyl-CpG-binding protein-2 (MeCP2) dysfunction on iPSC-derived neuronal migration and maturation (reduced neurite outgrowth and fewer synapses) in 3D layered hydrogels
26782401 A statistically significant difference was observed in the rs2239464 and rs2075596 polymorphisms of MECP2 between Systemic lupus erythematosus subjects and controls.
26648260 The aim of the present study was to evaluate the potential of MeCP2 for use as a therapeutic target for human colorectal cancer.
26546296 Study shows that MECP2 is commonly amplified oncogene in human malignancies with a unique epigenetic mechanism of action where its binding to 5-hydroxymethylcytosine is important for its anchorage-independent growth.
26525614 this study describes somatic, neurologic and mental symptoms of the patients with X chromosome distal long arm microduplications encompassing the MECP2 gene.
26420639 Xq28 duplication involving MECP2 is associated with brain diseases.
26418480 Effects of the most common Rett Syndrome -causing mutations on the stability of methyl-CpG-binding domain of MeCP2 have been investigated through in silico and in vitro studies.
26347316 We generated induced pluripotent stem cells (iPSCs) from patients with the MECP2 duplication syndrome (MECP2dup), carrying different duplication sizes, to study the impact of increased MeCP2 dosage in human neurons
26312503 The authors identify NUDT21 as a novel candidate for intellectual disability and neuropsychiatric disease, and elucidate a mechanism of pathogenesis by MeCP2 dysregulation via altered alternative polyadenylation.
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AA Sequence

MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGS      1 - 70
APAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIA     71 - 140
YFEKVGDTSLDPNDFDFTVTGRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVK    141 - 210
RVLEKSPGKLLVKMPFQTSPGGKAEGGGATTSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAA    211 - 280
AEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESS    281 - 350
PKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPR    351 - 420
GGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTPVTERVS        421 - 486
//

Text Mined References (469)

PMID Year Title
27064487 2016 Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.
26944080 2016 Layered hydrogels accelerate iPSC-derived neuronal maturation and reveal migration defects caused by MeCP2 dysfunction.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26782401 2015 Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han.
26648260 2016 Lentivirus?mediated knockdown of MeCP2 inhibits the growth of colorectal cancer cells in vitro.
26546296 2016 MECP2 Is a Frequently Amplified Oncogene with a Novel Epigenetic Mechanism That Mimics the Role of Activated RAS in Malignancy.
26525614 2015 [Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene].
26420639 2016 Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
26418480 2015 Impact of Rett Syndrome Mutations on MeCP2 MBD Stability.
26347316 2016 Altered neuronal network and rescue in a human MECP2 duplication model.
More...