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MECP2 - methyl CpG binding protein 2 (Rett syndrome)
Entrez Gene Name: methyl CpG binding protein 2 (Rett syndrome)
Entrez GeneID: Human(4204)
, Mouse(17257), Rat(29386)
, Mouse(17257), Rat(29386) Synonyms: 1500041B07Rik, AUTSX3, BB130002, D630021H01RIK, DKFZp686A24160, Mbd5, MECP2, Mecp2 Beta, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT, WBP10
Gene Summary
- Human (4204): 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. [provided by RefSeq]
- Rat (29386): methyl-CpG-binding protein; binds to DNA that contains a single methyl-CpG pair [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
adult locomotory behavior, behavioral fear response, brain development, cardiolipin metabolic process, catecholamine secretion, cellular biogenic amine metabolic process, cerebellum development, chromatin silencing, dendrite development, embryo development, glucocorticoid metabolic process, glutamine metabolic process, histone acetylation, histone methylation, inositol metabolic process, learning, long-term memory, long-term synaptic potentiation, memory, mitochondrial electron transport, ubiquinol to cytochrome c, negative regulation of histone acetylation, negative regulation of histone methylation, negative regulation of neuron apoptosis, negative regulation of transcription from RNA polymerase II promoter, negative regulation of transcription, DNA-dependent, neurological system process involved in regulation of systemic arterial blood pressure, neuromuscular process, neuromuscular process controlling posture, neuron differentiation, neuron maturation, neuron projection development, pathogenesis, phosphatidylcholine metabolic process, positive regulation of cell proliferation, positive regulation of synaptogenesis, positive regulation of transcription, DNA-dependent, post-embryonic development, proprioception, protein localization, regulation of excitatory postsynaptic membrane potential, regulation of gene expression by genetic imprinting, regulation of gene expression, epigenetic, regulation of respiratory gaseous exchange by neurological system process, regulation of synaptic plasticity, regulation of transcription, DNA-dependent, respiratory gaseous exchange, response to hypoxia, response to stress, sensory perception of pain, social behavior, startle response, synapse assembly, synaptic transmission, transcription, DNA-dependent, ventricular system development, visual learning
Cellular Components
cytoplasm, cytosol, heterochromatin, nuclear chromatin, nucleus, protein complex
Literature References
- 15907476Ballas N, Grunseich C, Lu DD, Speh JC, Mandel G. REST and Its Corepressors Mediate Plasticity of Neuronal Gene Chromatin throughout Neurogenesis.Cell 2005 May 20;121(4):645-57
- 15696166Harikrishnan KN, Chow MZ, Baker EK, Pal S, Bassal S, Brasacchio D, Wang L, Craig JM, Jones PL, Sif S, El-Osta A. Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.Nat Genet 2005 Mar 01;37(3):254-64
- 15034579Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.Nat Genet 2004 Apr 01;36(4):339-41
Molecular Functions
chromatin binding, chromatin DNA binding, DNA binding, double-stranded methylated DNA binding, enzyme binding, four-way junction DNA binding, methyl-CpG binding, mRNA binding, protein binding, protein domain specific binding, protein N-terminus binding, sequence-specific DNA binding transcription factor activity, siRNA binding, transcription corepressor activity, transcription factor binding, unmethylated CpG binding
Protein Domains
chromatin binding, corepressor binding domain, DNA binding, DNA binding domain, enzyme binding, MBD, methyl-CpG binding, mRNA binding, protein binding, protein domain specific binding, protein N-terminus binding, transcription co-repressor, transcription factor, transcription factor binding, transcription regulator, transcription repression domain, unmethylated CpG binding
Subcellular Locations
chromatin, chromosomes, Cytoplasm, cytosol, heterochromatic compartments, heterochromatin, nuclear chromatin, nuclear foci, nuclear fraction, nucleoli, Nucleus, pericentric heterochromatin