Protein:MECP2 |
Protein Summary |
 Gene summary |
| Gene name: MECP2 | ASpdb.0 ID: 4204 | Gene | Gene symbol | MECP2 | Gene ID | 4204 |
| Gene name | methyl-CpG binding protein 2 |
| Synonyms | AUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTT |
| Cytomap | Xq28 |
| Type of gene | protein-coding |
| Description | methyl-CpG-binding protein 2meCp-2 protein |
| Modification date | 20240416 |
| UniProtAcc | P51608 |
| Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | MECP2 | GO:0000792 | heterochromatin | 11441023 |
| Gene | MECP2 | GO:0003714 | transcription corepressor activity | 10773092 |
| Gene | MECP2 | GO:0005634 | nucleus | 11441023|21782149 |
| Gene | MECP2 | GO:0005654 | nucleoplasm | - |
| Gene | MECP2 | GO:0010629 | negative regulation of gene expression | 23960241 |
| Gene | MECP2 | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 23960241 |
| Gene | MECP2 | GO:0044027 | negative regulation of gene expression via chromosomal CpG island methylation | 23960241 |
| Gene | MECP2 | GO:0045892 | negative regulation of DNA-templated transcription | 11441023 |
AS Summary |
| Information of the canonical protein with experimentally identified structure from PDB (2023). |
| UniProt Acc | File name | PDB ID | Method | Resolution | Chain | Start | End |
| P51608-1 | P51608-1_6ogj_B.pdb | 6OGJ | X-ray | 1.8 | B | 87 | 166 |
| ASpdb's canonical and alternatively spliced isoform information. |
| accession_id | gene_name | canonical_id | alternative_id | canonical_length | alternative_length | canonical_start | canonical_end | type | originalSEQ | variationSEQ | alternative_start | alternative_end |
| P51608 | MECP2 | P51608-1 | P51608-2 | 486 | 498 | 1 | 9 | Substitution | MVAGMLGLR | MAAAAAAAPSGGGGGGEEERL | 1 | 21 |
| Multiple sequence alignment of our canonical and alternatively spliced MECP2 |
| Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of MECP2 |
| UniProt-id | ENSG | ENST | ENSP |
| P51608-1 | ENSG00000169057.25 | ENST00000303391.11 | ENSP00000301948.6 |
| P51608-2 | ENSG00000169057.25 | ENST00000453960.7 | ENSP00000395535.2 |
| UniProt-id | NM ID | NP ID |
| P51608-1 | NM_004992.3 | NP_004983.1 |
| P51608-2 | NM_001110792.1 | NP_001104262.1 |
| Amino acid sequences of our canonical and alternatively spliced MECP2 |
| accession_id | Protein sequence |
| P51608-1 | MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGSAPAVPEASASPKQRRSIIRD RGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVTGRGSPSRREQKPPKKPKSPK APGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGATTSTQVMVIKRPGRKRKAEADPQAIPKKRGR KPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASS PPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKY |
| P51608-2 | MAAAAAAAPSGGGGGGEEERLEEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGSAPAVPEAS ASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVTGRGSPSRR EQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGATTSTQVMVIKRPGRKRKAE ADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKE SSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQP |
Protein Functional Features |
| Main function of this protein. (from UniProt) |
| MECP2 (go to UniProt):P51608 |
| Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| P51608 | Region | 1 | 119 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=1;End=9 |
| P51608 | Compositional bias | 8 | 49 | Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=1;End=9 |
Gene Isoform Structures and Expression Levels for MECP2 |
| Gene structures of our canonical and alternative spliced genes of MECP2 * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Expression levels of gene isoforms across GTEx. |
 |
| Expression levels of gene isoforms across TCGA. |
 |
Protein Structures |
| PDB and CIF files of the predicted protein structures * Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| 3D view using mol* of P51608-1 |
| 3D view using mol* of P51608-2 |
pLDDT Score Distribution |
| pLDDT score distribution of the predicted protein structures from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
| pLDDT distribution across the protein length of P51608-1 |
 |
| pLDDT distribution across the protein length of P51608-2 |
 |
Ramachandran Plot of Protein Structures |
| Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide. |
| Ramachandran plot of P51608-1 |
 |
Potential Active Site Information |
| The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite. |
| UniProt-id | Site score | Size | D score | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
| P51608-1 | 0.59 | 27 | 0.545 | 62.769 | 0.733 | 0.558 | 0.73 | 0.428 | 0.852 | 0.502 | 1 | 88,89,91,92,94,99,160,161,162,163,164
|
| P51608-2 | 0.426 | 17 | 0.359 | 38.759 | 0.844 | 0.446 | 0.566 | 0.112 | 0.91 | 0.123 | 0.952 | 108,109,110,112,114,115,116,117,118
|
Protein Structure and Feature Comparision |
| Protein Structure Comparision Using Template Modeling Scores (TM-score). |
 |
| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green) |
| 3D view using mol* of P51608-1_P51608-1_6ogj_B.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P51608-1_6ogj_B_P51608-2.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P51608-1_P51608-2.pdb |
| Protein Feature Comparison of the protein sequendary structures among the protiens. |
| ./stats/secondary_structure/figure/P51608-1_vs_P51608-2.png |
 < |
| Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens. |
| ./stats/relative_asa/P51608-1_vs_P51608-2.png |
 < |
Protein-Protein Interaction |
| Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to MECP2 |
| Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
Related Diseases to MECP2 |
| Previous studies relating to the alternative splicing of MECP2 and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| MECP2 | 16251272 | Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. | Rett syndrome (RTT) is a postnatal neurodevelopmental disorder characterized by the loss of acquired motor and language skills, autistic features, and unusual stereotyped movements. RTT is caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2). Mutations in MECP2 cause a variety of neurodevelopmental disorders including X-linked mental retardation, psychiatric disorders, and some cases of autism. Although MeCP2 was identified as a methylation-dependent transcriptional repressor, transcriptional profiling of RNAs from mice lacking MeCP2 did not reveal significant gene expression changes, suggesting that MeCP2 does not simply function as a global repressor. Changes in expression of a few genes have been observed, but these alterations do not explain the full spectrum of Rett-like phenotypes, raising the possibility that additional MeCP2 functions play a role in pathogenesis. In this study, we show that MeCP2 interacts with the RNA-binding protein Y box-binding protein 1 and regulates splicing of reporter minigenes. Importantly, we found aberrant alternative splicing patterns in a mouse model of RTT. Thus, we uncovered a previously uncharacterized function of MeCP2 that involves regulation of splicing, in addition to its role as a transcriptional repressor. | D015518 | Rett Syndrome |
Clinically important variants in MECP2 |
| (ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
Copyright 2024-PresentThe University of Texas Health Science Center at Houston (UTHealth Houston) Web File Viewing | Emergency Information |