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RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for data imported from The Genotype-Tissue Expression project (GTEX), FANTOM5 Consortium (FANTOM5) and internally generated Human Protein Atlas (HPA) data.
Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.
Evidence at protein level
Protein expressioni
A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation.
"Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile.
Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.
Antibody staining consistent with RNA expression data.
Reliability scorei
Reliability score (score description), divided into Enhanced, Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between antibody staining pattern, available RNA-Seq and gene/protein characterization data, as well as similarity between independent antibodies targeting the same protein.
Below is an overview of RNA and protein expression data generated in the Human Protein Atlas project. Analyzed tissues are divided into color-coded groups according to which functional features they have in common. For each group, a list of included tissues is accessed by clicking on group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page.
Images of selected tissues give a visual summary of the protein expression profile furthest to the right.
The gray human body provides links to a histology dictionary when clicking on any part of the figure.
RNA expression (TPM)i
RNA-seq results generated in HPA are reported as number of transcripts per million (TPM). Each bar represents the highest expression score found in a particular group of tissues. The assay is described more in detail in Assays & Annotation.
Protein expression (score)i
Each bar represents the highest expression score found in a particular group of tissues. Protein expression scores are based on a best estimate of the "true" protein expression from a knowledge-based annotation, described more in detail under Assays & annotation. For genes where more than one antibody has been used, a collective score is set displaying the estimated true protein expression.
Protein expression data is shown for each of the 44 tissues. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types in a selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation gave inconclusive results, no protein expression data is displayed in the protein expression data overview. However, all immunohistochemical images are still available and the annotation data can be found under Primary data.
Organ
Expression
Alphabetical
RNA EXPRESSION OVERVIEWi
RNA expression overview shows RNA-data from three different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data, RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.
HPA dataseti
HPA dataset RNA-seq tissue data is reported as mean TPM (transcripts per million), corresponding to mean values of the different individual samples from each tissue. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar. The RNA-seq assay is described in detail in Assays & Annotation.
RNA tissue category HPA HPA RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataseti
GTEx dataset RNA-seq data is reported as median RPKM (reads per kilobase per million mapped reads), generated by the Genotype-Tissue Expression (GTEx) project. More information can be found in Assays & Annotation.
RNA tissue category GTEx GTEx RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataseti
FANTOM5 dataset Tissue data obtained through Cap Analysis of Gene Expression (CAGE) are reported as Tags Per Million, generated by the FANTOM5 project. More information can be found in Assays & Annotation.
RNA tissue category FANTOM5 FANTOM5 RNA tissue category (category description) is calculated based on gene expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GENE INFORMATIONi
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.
Gene name
MECP2 (HGNC Symbol)
Synonyms
MRX16, MRX79, RTT
Description
Methyl-CpG binding protein 2 (HGNC Symbol)
Entrez gene summary
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]
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
MECP2-001
MECP2-002
MECP2-005
MECP2-008
MECP2-017
MECP2-019
MECP2-028
MECP2-201
MECP2-202
MECP2-203
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
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; Methyl CpG binding protein 2 isoform 1; 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)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000792 [heterochromatin] GO:0003677 [DNA binding] GO:0003714 [transcription corepressor activity] GO:0003723 [RNA binding] GO:0005515 [protein binding] GO:0005615 [extracellular space] GO:0005634 [nucleus] GO:0005739 [mitochondrion] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0010385 [double-stranded methylated DNA binding] GO:0019904 [protein domain specific binding] GO:0042826 [histone deacetylase binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0047485 [protein N-terminus binding] GO:0098794 [postsynapse]
P51608 [Direct mapping] Methyl-CpG-binding protein 2 A0A140VKC4 [Target identity:100%; Query identity:100%] Methyl CpG binding protein 2 (Rett syndrome), isoform CRA_c; Testis tissue sperm-binding protein Li 41a
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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:0000792 [heterochromatin] GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding] 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:0003723 [RNA binding] GO:0003729 [mRNA binding] GO:0005515 [protein binding] GO:0005615 [extracellular space] GO:0005634 [nucleus] 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 [chemical synaptic transmission] GO:0007416 [synapse assembly] GO:0007420 [brain development] GO:0007585 [respiratory gaseous exchange] GO:0007612 [learning] GO:0007613 [memory] GO:0007616 [long-term memory] 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:0009405 [pathogenesis] GO:0009791 [post-embryonic development] GO:0010385 [double-stranded methylated DNA binding] GO:0010468 [regulation of gene expression] GO:0016358 [dendrite development] 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:0031061 [negative regulation of histone methylation] GO:0031175 [neuron projection development] GO:0032048 [cardiolipin metabolic process] 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:0043524 [negative regulation of neuron apoptotic process] 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:0050432 [catecholamine secretion] GO:0050884 [neuromuscular process controlling posture] GO:0050905 [neuromuscular process] GO:0051151 [negative regulation of smooth muscle cell differentiation] GO:0051965 [positive regulation of synapse assembly] GO:0060079 [excitatory postsynaptic potential] GO:0060291 [long-term synaptic potentiation] GO:0098794 [postsynapse] GO:1900114 [positive regulation of histone H3-K9 trimethylation] GO:2000820 [negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation]
The Human Protein Atlas project is funded
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