MECP2

MECP2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1QK9, 3C2I
Identifiers
Aliases	MECP2, AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT, methyl-CpG binding protein 2
External IDs	OMIM: 300005; MGI: 99918; HomoloGene: 3657; GeneCards: MECP2; OMA:MECP2 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 154,021,573 bp[1] End 154,137,103 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.3|X 37.63 cM Start 73,070,198 bp[2] End 73,178,969 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in paraflocculus of cerebellum Brodmann area 10 sural nerve frontal pole epithelium of colon middle frontal gyrus cerebellar vermis Achilles tendon postcentral gyrus blood Top expressed in substantia nigra Rostral migratory stream pineal gland habenula dorsal striatum Region I of hippocampus proper anterior amygdaloid area superior colliculus ciliary body lateral septal nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function double-stranded methylated DNA binding transcription corepressor activity protein domain specific binding protein N-terminus binding DNA-binding transcription factor activity transcription factor binding siRNA binding mRNA binding chromatin binding protein binding DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific RNA binding methyl-CpG binding Cellular component postsynapse cytoplasm mitochondrion nucleus heterochromatin extracellular space gamma-tubulin complex centrosome cytosol chromatin nucleoplasm Biological process negative regulation of neuron apoptotic process multicellular organismal response to stress inositol metabolic process mitochondrial electron transport, ubiquinol to cytochrome c post-embryonic development learning proprioception neuron projection development regulation of gene expression by genetic imprinting regulation of transcription, DNA-templated pathogenesis neuromuscular process controlling posture adult locomotory behavior memory transcription, DNA-templated ventricular system development neuron maturation positive regulation of transcription, DNA-templated glutamine metabolic process neuromuscular process histone acetylation excitatory postsynaptic potential nervous system process involved in regulation of systemic arterial blood pressure social behavior synapse assembly chemical synaptic transmission negative regulation of histone methylation startle response glucocorticoid metabolic process dendrite development negative regulation of transcription by RNA polymerase II behavioral fear response respiratory gaseous exchange by respiratory system cerebellum development regulation of synaptic plasticity cardiolipin metabolic process neuron differentiation regulation of gene expression sensory perception of pain negative regulation of transcription, DNA-templated phosphatidylcholine metabolic process visual learning protein localization response to hypoxia regulation of gene expression, epigenetic cellular biogenic amine metabolic process regulation of respiratory gaseous exchange by nervous system process brain development long-term memory histone methylation negative regulation of histone acetylation catecholamine secretion long-term potentiation positive regulation of synapse assembly negative regulation of smooth muscle cell differentiation positive regulation of histone H3-K9 trimethylation negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation mitotic spindle organization locomotory behavior positive regulation of cell population proliferation response to radiation positive regulation of G2/M transition of mitotic cell cycle positive regulation of microtubule nucleation transcription initiation from RNA polymerase II promoter negative regulation of gene expression negative regulation of angiogenesis negative regulation of blood vessel endothelial cell migration positive regulation of DNA methylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4204 17257 Ensembl ENSG00000169057 ENSMUSG00000031393 UniProt P51608 Q9Z2D6 RefSeq (mRNA) NM_001110792 NM_004992 NM_001316337 NM_001369391 NM_001369392 NM_001369393 NM_001369394 NM_001386137 NM_001386138 NM_001386139 NM_001081979 NM_010788 RefSeq (protein) NP_001104262 NP_001303266 NP_004983 NP_001356320 NP_001356321 NP_001356322 NP_001356323 NP_001075448 NP_034918 Location (UCSC) Chr X: 154.02 – 154.14 Mb Chr X: 73.07 – 73.18 Mb PubMed search [3] [4]
Wikidata
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MECP2 (methyl CpG binding protein 2) is a gene^[5] that encodes the protein MECP2.^[6] MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels. The MECP2 protein is likely to be involved in turning off ("repressing" or "silencing") several other genes. This prevents the genes from making proteins when they are not needed. Recent work has shown that MECP2 can also activate other genes.^[7] The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611.

MECP2 is an important reader of DNA methylation. Its methyl-CpG-binding (MBD) domain recognizes and binds 5-mC regions. MECP2 is X-linked and subject to X inactivation. 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 cognitive disability in females.^[8] At least 53 disease-causing mutations in this gene have been discovered.^[9]