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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
q28
Chromosome location (bp)
154021573 - 154137103
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)- containing DNA, with a preference for 5-methylcytosine (5mC)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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 cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P51608 [Direct mapping] Methyl-CpG-binding protein 2
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D3YJ43 [Target identity:100%; Query identity:100%] Methyl-CpG-binding protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000792[heterochromatin] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003714[transcription corepressor activity] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005813[centrosome] GO:0006349[regulation of gene expression by genomic imprinting] GO:0007052[mitotic spindle organization] GO:0008284[positive regulation of cell population proliferation] GO:0008327[methyl-CpG binding] GO:0010385[double-stranded methylated DNA binding] GO:0010629[negative regulation of gene expression] GO:0010971[positive regulation of G2/M transition of mitotic cell cycle] GO:0016525[negative regulation of angiogenesis] GO:0019904[protein domain specific binding] GO:0043537[negative regulation of blood vessel endothelial cell migration] GO:0045202[synapse] GO:0045892[negative regulation of DNA-templated transcription] GO:0047485[protein N-terminus binding] GO:0060090[molecular adaptor activity] GO:0090063[positive regulation of microtubule nucleation] GO:0098794[postsynapse] GO:0140693[molecular condensate scaffold activity] GO:1905643[positive regulation of DNA methylation]
B5MCB4 [Direct mapping] Methyl-CpG-binding protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
C9JH89 [Direct mapping] Methyl-CpG-binding protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
P51608 [Direct mapping] Methyl-CpG-binding protein 2
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A0A140VKC4 [Target identity:100%; Query identity:100%] Methyl-CpG-binding protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000792[heterochromatin] GO:0001662[behavioral fear response] GO:0001666[response to hypoxia] GO:0001964[startle response] GO:0001976[nervous system process involved in regulation of systemic arterial blood pressure] GO:0002087[regulation of respiratory gaseous exchange by nervous system process] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0003714[transcription corepressor activity] GO:0003723[RNA binding] GO:0003729[mRNA binding] GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005829[cytosol] GO:0006020[inositol metabolic process] GO:0006349[regulation of gene expression by genomic imprinting] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006541[glutamine metabolic process] GO:0006576[cellular biogenic amine metabolic process] GO:0007052[mitotic spindle organization] GO:0007219[Notch signaling pathway] GO:0007268[chemical synaptic transmission] GO:0007416[synapse assembly] GO:0007420[brain development] GO:0007585[respiratory gaseous exchange by respiratory system] GO:0007612[learning] GO:0007613[memory] GO:0007616[long-term memory] GO:0008104[protein localization] GO:0008211[glucocorticoid metabolic process] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0008306[associative learning] GO:0008327[methyl-CpG binding] GO:0008344[adult locomotory behavior] GO:0008542[visual learning] GO:0009791[post-embryonic development] GO:0010385[double-stranded methylated DNA binding] GO:0010467[gene expression] GO:0010468[regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010971[positive regulation of G2/M transition of mitotic cell cycle] GO:0014009[glial cell proliferation] GO:0016358[dendrite development] GO:0016525[negative regulation of angiogenesis] GO:0016571[histone methylation] GO:0016573[histone acetylation] GO:0019230[proprioception] GO:0019233[sensory perception of pain] GO:0019904[protein domain specific binding] GO:0021549[cerebellum development] GO:0021591[ventricular system development] GO:0030182[neuron differentiation] GO:0031175[neuron projection development] GO:0031507[heterochromatin formation] GO:0032048[cardiolipin metabolic process] GO:0033555[multicellular organismal response to stress] GO:0035176[social behavior] GO:0035197[siRNA binding] GO:0040029[epigenetic regulation of gene expression] GO:0042551[neuron maturation] GO:0043524[negative regulation of neuron apoptotic process] GO:0043537[negative regulation of blood vessel endothelial cell migration] GO:0045202[synapse] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046470[phosphatidylcholine metabolic process] GO:0047485[protein N-terminus binding] GO:0048167[regulation of synaptic plasticity] GO:0050432[catecholamine secretion] GO:0050884[neuromuscular process controlling posture] GO:0050905[neuromuscular process] GO:0051151[negative regulation of smooth muscle cell differentiation] GO:0051570[regulation of histone H3-K9 methylation] GO:0051707[response to other organism] GO:0060079[excitatory postsynaptic potential] GO:0060090[molecular adaptor activity] GO:0060252[positive regulation of glial cell proliferation] GO:0060291[long-term synaptic potentiation] GO:0090063[positive regulation of microtubule nucleation] GO:0098794[postsynapse] GO:0099191[trans-synaptic signaling by BDNF] GO:0140693[molecular condensate scaffold activity] GO:1900114[positive regulation of histone H3-K9 trimethylation] GO:1905643[positive regulation of DNA methylation] GO:1990841[promoter-specific chromatin binding] GO:2000820[negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation]
A0A0D9SFX7 [Direct mapping] Methyl-CpG-binding protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A0D9SEX1 [Direct mapping] Methyl-CpG-binding protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1B0GTV0 [Direct mapping] Methyl-CpG-binding protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
