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DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
P51608 [Direct mapping] Methyl-CpG-binding protein 2 D3YJ43 [Target identity:100%; Query identity:100%] Methyl CpG binding protein 2; Methyl CpG binding protein 2 (Rett syndrome), isoform CRA_a; Mutant methyl CpG binding protein 2 transcript 1
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Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
P51608 [Direct mapping] Methyl-CpG-binding protein 2
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Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000400 [four-way junction DNA binding] GO:0000790 [nuclear chromatin] GO:0000792 [heterochromatin] GO:0001662 [behavioral fear response] GO:0001666 [response to hypoxia] GO:0001964 [startle response] GO:0001976 [neurological system process involved in regulation of systemic arterial blood pressure] GO:0002087 [regulation of respiratory gaseous exchange by neurological system process] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003714 [transcription corepressor activity] GO:0003729 [mRNA binding] GO:0005515 [protein binding] GO:0005615 [extracellular space] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0005829 [cytosol] GO:0006020 [inositol metabolic process] GO:0006122 [mitochondrial electron transport, ubiquinol to cytochrome c] GO:0006342 [chromatin silencing] GO:0006349 [regulation of gene expression by genetic imprinting] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006541 [glutamine metabolic process] GO:0006576 [cellular biogenic amine metabolic process] GO:0007268 [synaptic transmission] GO:0007416 [synapse assembly] GO:0007420 [brain development] GO:0007507 [heart development] GO:0007585 [respiratory gaseous exchange] GO:0007612 [learning] GO:0007613 [memory] GO:0007616 [long-term memory] GO:0007626 [locomotory behavior] GO:0008104 [protein localization] GO:0008134 [transcription factor binding] GO:0008211 [glucocorticoid metabolic process] GO:0008284 [positive regulation of cell proliferation] GO:0008327 [methyl-CpG binding] GO:0008344 [adult locomotory behavior] GO:0008542 [visual learning] GO:0009314 [response to radiation] GO:0009405 [pathogenesis] GO:0009791 [post-embryonic development] GO:0010212 [response to ionizing radiation] GO:0010288 [response to lead ion] GO:0010385 [double-stranded methylated DNA binding] GO:0010468 [regulation of gene expression] GO:0014070 [response to organic cyclic compound] GO:0016358 [dendrite development] GO:0016571 [histone methylation] GO:0016573 [histone acetylation] GO:0019230 [proprioception] GO:0019233 [sensory perception of pain] GO:0019899 [enzyme binding] GO:0019904 [protein domain specific binding] GO:0021549 [cerebellum development] GO:0021591 [ventricular system development] GO:0030182 [neuron differentiation] GO:0031061 [negative regulation of histone methylation] GO:0031175 [neuron projection development] GO:0031490 [chromatin DNA binding] GO:0032048 [cardiolipin metabolic process] GO:0032355 [response to estradiol] GO:0033555 [multicellular organismal response to stress] GO:0035067 [negative regulation of histone acetylation] GO:0035176 [social behavior] GO:0035197 [siRNA binding] GO:0040029 [regulation of gene expression, epigenetic] GO:0042551 [neuron maturation] GO:0042826 [histone deacetylase binding] GO:0043234 [protein complex] GO:0043524 [negative regulation of neuron apoptotic process] GO:0044030 [regulation of DNA methylation] GO:0044822 [poly(A) RNA binding] GO:0045322 [unmethylated CpG binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0046470 [phosphatidylcholine metabolic process] GO:0047485 [protein N-terminus binding] GO:0048167 [regulation of synaptic plasticity] GO:0048712 [negative regulation of astrocyte differentiation] GO:0050432 [catecholamine secretion] GO:0050884 [neuromuscular process controlling posture] GO:0050905 [neuromuscular process] GO:0051965 [positive regulation of synapse assembly] GO:0060079 [excitatory postsynaptic potential] GO:0060291 [long-term synaptic potentiation]