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	MGI: 99918 HomoloGene: 3657 GeneCards: MECP2
Gene ontology Molecular function • double-stranded methylated DNA binding • transcription corepressor activity • protein domain specific binding • protein N-terminus binding • transcription factor activity, sequence-specific DNA binding • histone deacetylase binding • transcription factor binding • siRNA binding • mRNA binding • chromatin binding • protein binding • DNA binding • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding • RNA binding • methyl-CpG binding Cellular component • postsynapse • cytoplasm • mitochondrion • nucleus • heterochromatin • extracellular space • cytosol 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 • neurological system process involved in regulation of systemic arterial blood pressure • social behavior • synapse assembly • chemical synaptic transmission • negative regulation of histone methylation • chromatin silencing • startle response • glucocorticoid metabolic process • dendrite development • negative regulation of transcription from RNA polymerase II promoter • behavioral fear response • respiratory gaseous exchange • 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 neurological system process • brain development • long-term memory • positive regulation of cell proliferation • histone methylation • negative regulation of histone acetylation • catecholamine secretion • long-term synaptic 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 Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4204	17257
Ensembl	ENSG00000169057	ENSMUSG00000031393
UniProt	P51608	Q9Z2D6
RefSeq (mRNA)	NM_001110792 NM_004992 NM_001316337	NM_001081979 NM_010788
RefSeq (protein)	NP_001104262 NP_001303266 NP_004983	NP_001075448.1 NP_034918.1 NP_001075448 NP_034918
Location (UCSC)	Chr X: 154.02 – 154.14 Mb	Chr X: 74.03 – 74.14 Mb
PubMed search

1QK9, 3C2I

4204

17257

ENSG00000169057

ENSMUSG00000031393

P51608

Q9Z2D6

NM_001110792
NM_004992
NM_001316337

NM_001081979
NM_010788

NP_001104262
NP_001303266
NP_004983

NP_001075448.1
NP_034918.1
NP_001075448
NP_034918

MECP2 (methyl CpG binding protein 2 (Rett syndrome)) is a gene that encodes the protein MECP2. 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. 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.

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