MECP2 (methyl-CpG binding protein 2) is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. MECP2 plays an important role in neuronal differentiation, maturation, morphology and function and influences synaptic plasticity. Mutations impairing the proper function of MECP2 are mainly associated with the Rett syndrome but may also contribute to other neurological disorders like schizophrenia, FASD (fetal alcohol syndrome), PPM-X-syndrome, autism, Prader-Will-syndrome, and Angelman-syndrome. Dependant on the cofactors MECP2 acts as an activator or repressor of transcription and micro RNA production. It affects RNA splicing and regulates chromatin structure together with HP1 and interferes in methylation of DNA (epigenetics). The expression of MECP2 itself is highly regulated by promotor elements, cis-regulatory elements, polyadenylation, promotor DNA methylation and miRNA.
Please cite this pathways as: http://www.wikipathways.org/instance/WP3584
Ehrhart et al. 2016 https://doi.org/10.1186/s13023-016-0545-5 - the pathway version in the paper is 90609.
Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP3584 CPTAC Assay Portal]c74nuclear receptor co-repressor 1c4fc74myelin transcription factor 1proof of Mecp2 inhibition in Oligodendrocytesd06POU domain, class 4, transcription factor 1 d06The effect of Mecp2 on miR-184 is discussed controversially: Nomura et al. 2008 reports an Mecp2 dependant repression of miR-184 while Liu et al. 2010 reports no effect of Mecp2 but an MBD1 dependant regulation of miR-184d7ba0df4fc74apolipoprotein C-IIa0dinfluences neuronal stem cell proliferation and differentiationbcff4fbrain derived neurotrophic factorc74Somatostatincd2chromatin factor, data obtained using human cell line and mouse primary tissued46neuronal regeneration related proteinc74methyl CpG binding protein 2POU domain, class 3, transcription factor 2c74Base sequence! It is unclear which mature miRNA was tested.f4ftructural maintenance of chromosomes 3beereported for human onlybinding site at 3'UTR of Mecp2 reported, regulative effect unclearbfaf4finhibition of Mecp2 expression only reported for human!c20myocyte enhancer factor 2Ccd2transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) c74N-Methyl-D-aspartic acidataxin 2 binding protein 1, Rbfox1cd22',3'-cyclic nucleotide 3' phosphodiesterasebf3d5ed35d4cbd9histone H3 lysine 27 methyltransferasebcfguanidinoacetate methyltransferasecd2c74f4fHistone 3bcfopioid receptor, kappa 1cd2f4fRho guanine nucleotide exchange factor (GEF) 26bd9c74bd9trans-acting transcription factor 1ecfa0db72TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factorecfHNRNPH1e66f4fcysteine and glycine-rich protein 1f4ff4freported for human umbilical vein endothelial cells onlyc56f4fcell adhesion molecule-related/down-regulated by oncogenesMyelin transcription factor 1d06CCAAT/enhancer binding protein (Cebpd), deltac74f4fmyelin basic proteinbe3c74B cell leukemia/lymphoma 6d06gamma-aminobutyric acid (GABA) C receptor, subunit rho 2bd9CCCTC-binding factor ecftrans-acting transcription factor 3c74no connection between Mecp2 and miR-187 in other sources than [3]c74beePRP3 pre-mRNA processing factor 3 homolog (yeast)f56E2F transcription factor 1 c74Glutamate receptord9eRE1-silencing transcription factorSilences Mecp2 in non-neuronal tissued06myelin-associated glycoproteinbe3G protein-regulated inducer of neurite outgrowth 1cd2tet methylcytosine dioxygenase 1b51f4fHnrnpfheterogeneous nuclear ribonucleoprotein Fe66f4fdata obtained with human cell line and mouse primary tissueY box protein 1d46e24methyl CpG binding protein 2methyl CpG binding protein 2trans-acting transcription factor 1ecfd06d5ebrain derived neurotrophic factorc74guanidinoacetate methyltransferasecd2d5emethyl CpG binding protein 2Glutamate receptorGlutamate receptorbinding to MECP2 confirmed in micebinding to MECP2 confirmed in micebinding to MECP2 confirmed in micealso known as hnRNPH+Fbinding to MECP2 confirmed in micealso known as TDP-43binding to MECP2 confirmed in micealso known as LEDGFfucosyltransferase 8c74fibroblast growth factor 2c74related to FASD (fetal alcohole spectrum disorder)NMDA receptor subunit: There are 8 different variants of NR1, produced by alternative splicing of GRIN1e24fibroblast growth factor 3c74c74c74neurofibromatosis 1a12distal-less homeobox 5controls GABA productione24a0deffect of MECP2 via LEDGF/PSIP1 influenced change of splice variants proven for miceSubpart of AMPAR receptorb6eeffect of MECP2 via LEDGF/PSIP1 influenced change of splice variants proven for miceSubpart of AMPAR receptorb6eeffect of MECP2 via LEDGF/PSIP1 influenced change of splice variants proven for miceSubpart of AMPAR receptorb6ef89f89f89influences alternative splicing, changes ratio of splice variantsb6ef89dc1e45d10f89e24d46f89f56f89b6einfluences alternative splicing, changes ratio of splice 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