SPARQL | HTML5 RDFa and Microdata document
https://identifiers.org/chebi/CHEBI:16865 https://identifiers.org/hmdb/HMDB0000073 https://identifiers.org/hmdb/HMDB0000123 https://identifiers.org/hmdb/HMDB0000259 https://identifiers.org/hmdb/HMDB0000216 https://identifiers.org/hmdb/HMDB0001389 https://identifiers.org/wikipathways/WP382 https://identifiers.org/chebi/CHEBI:29987 https://identifiers.org/ensembl/ENSG00000198793 https://identifiers.org/ensembl/ENSG00000082556 https://identifiers.org/ensembl/ENSG00000128683 https://identifiers.org/ensembl/ENSG00000138336 https://identifiers.org/ensembl/ENSG00000168769 https://identifiers.org/ensembl/ENSG00000172845 https://identifiers.org/ensembl/ENSG00000187605 https://identifiers.org/ensembl/ENSG00000221869 https://identifiers.org/ensembl/ENSG00000006377 https://identifiers.org/ensembl/ENSG00000105880 https://identifiers.org/ensembl/ENSG00000114790 https://identifiers.org/hmdb/HMDB0000211 https://identifiers.org/ensembl/ENSG00000152192 https://identifiers.org/ensembl/ENSG00000017427 https://identifiers.org/ensembl/ENSG00000070808 https://identifiers.org/ensembl/ENSG00000081189 https://identifiers.org/ensembl/ENSG00000096060 https://identifiers.org/ensembl/ENSG00000108055 https://identifiers.org/ensembl/ENSG00000116478 https://identifiers.org/ensembl/ENSG00000118260 https://identifiers.org/ensembl/ENSG00000118515 https://identifiers.org/ensembl/ENSG00000137154 https://identifiers.org/ensembl/ENSG00000142208 https://identifiers.org/ensembl/ENSG00000176697 https://identifiers.org/ensembl/ENSG00000185591 https://identifiers.org/ensembl/ENSG00000102974 https://identifiers.org/ensembl/ENSG00000184486 https://identifiers.org/hmdb/HMDB0002393 https://identifiers.org/mirbase.mature/MIMAT0004594 https://identifiers.org/ensembl/ENSG00000064309 https://identifiers.org/ensembl/ENSG00000065978 https://identifiers.org/ensembl/ENSG00000089280 https://identifiers.org/ensembl/ENSG00000105695 https://identifiers.org/ensembl/ENSG00000106462 https://identifiers.org/ensembl/ENSG00000125675 https://identifiers.org/ensembl/ENSG00000130005 https://identifiers.org/ensembl/ENSG00000134748 https://identifiers.org/ensembl/ENSG00000135829 https://identifiers.org/ensembl/ENSG00000152578 https://identifiers.org/ensembl/ENSG00000169045 https://identifiers.org/ensembl/ENSG00000169375 https://identifiers.org/ensembl/ENSG00000169813 https://identifiers.org/ensembl/ENSG00000173786 https://identifiers.org/ensembl/ENSG00000196132 https://identifiers.org/ensembl/ENSG00000197971 https://identifiers.org/ensembl/ENSG00000033170 https://identifiers.org/ensembl/ENSG00000147133 https://identifiers.org/ensembl/ENSG00000182771 https://identifiers.org/ensembl/ENSG00000075388 https://identifiers.org/ensembl/ENSG00000101412 https://identifiers.org/ensembl/ENSG00000138675 https://identifiers.org/ensembl/ENSG00000138685 https://identifiers.org/ensembl/ENSG00000140443 https://identifiers.org/ensembl/ENSG00000155511 https://identifiers.org/ensembl/ENSG00000157005 https://identifiers.org/ensembl/ENSG00000169057 https://identifiers.org/ensembl/ENSG00000171862 https://identifiers.org/ensembl/ENSG00000176884 https://identifiers.org/ensembl/ENSG00000186895 https://identifiers.org/ensembl/ENSG00000196712 https://identifiers.org/ensembl/ENSG00000078328 https://identifiers.org/ensembl/ENSG00000084093 https://identifiers.org/ensembl/ENSG00000120948 https://identifiers.org/ensembl/ENSG00000167244 https://identifiers.org/ensembl/ENSG00000169258 https://identifiers.org/ensembl/ENSG00000176165 https://identifiers.org/ensembl/ENSG00000111886 https://identifiers.org/ensembl/ENSG00000141027 https://identifiers.org/chebi/CHEBI:16523 https://identifiers.org/ensembl/ENSG00000113916 https://identifiers.org/ensembl/ENSG00000164985 https://identifiers.org/wikipathways/WP3585 https://identifiers.org/ensembl/ENSG00000130830 https://identifiers.org/ensembl/ENSG00000134986 https://identifiers.org/mirbase.mature/MIMAT0000088 https://identifiers.org/mirbase.mature/MIMAT0000092 https://identifiers.org/mirbase.mature/MIMAT0000227 https://identifiers.org/mirbase.mature/MIMAT0000231 https://identifiers.org/mirbase.mature/MIMAT0000232 https://identifiers.org/mirbase.mature/MIMAT0000263 https://identifiers.org/mirbase.mature/MIMAT0000278 https://identifiers.org/mirbase.mature/MIMAT0000279 https://identifiers.org/mirbase.mature/MIMAT0000421 https://identifiers.org/mirbase.mature/MIMAT0000425 https://identifiers.org/mirbase.mature/MIMAT0000429 https://identifiers.org/mirbase.mature/MIMAT0000438 https://identifiers.org/mirbase.mature/MIMAT0000449 https://identifiers.org/mirbase.mature/MIMAT0000454 https://identifiers.org/mirbase.mature/MIMAT0000690 https://identifiers.org/mirbase.mature/MIMAT0000691 https://identifiers.org/mirbase.mature/MIMAT0000753 https://identifiers.org/mirbase.mature/MIMAT0001639 https://identifiers.org/mirbase.mature/MIMAT0004514 https://identifiers.org/mirbase.mature/MIMAT0004561 https://identifiers.org/mirbase.mature/MIMAT0004568 https://identifiers.org/mirbase.mature/MIMAT0004614 https://identifiers.org/mirbase.mature/MIMAT0004761 https://identifiers.org/mirbase.mature/MIMAT0004766 https://identifiers.org/mirbase.mature/MIMAT0022697 https://identifiers.org/mirbase.mature/MIMAT0026555 https://identifiers.org/pubchem.compound/11318905 https://identifiers.org/pubmed/24615633 https://identifiers.org/wikipathways/WP3584 https://identifiers.org/ensembl/ENSG00000114062 https://identifiers.org/ensembl/ENSG00000168394 https://identifiers.org/ensembl/ENSG00000234906 https://identifiers.org/ensembl/ENSG00000159176 http://rdf.wikipathways.org/Pathway/WP3584_r128284/Complex/a6834 http://rdf.wikipathways.org/Pathway/WP3584_r128284/Complex/db9d2 http://rdf.wikipathways.org/Pathway/WP3584_r128284/Complex/eecef http://rdf.wikipathways.org/Pathway/WP3584_r128284/ComplexBinding/a6834 http://rdf.wikipathways.org/Pathway/WP3584_r128284/ComplexBinding/db9d2 http://rdf.wikipathways.org/Pathway/WP3584_r128284/ComplexBinding/eecef http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/c57cc http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/cbbc2 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/de16a http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id1573ec9c http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id18d6cba1 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id1c3def3d http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id2564ade6 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id3094d8c7 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id369d65eb http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id3bcd32 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id4a259c62 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id4f207df3 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id6df7811 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id703b03b http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id7b1cc017 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id83a11120 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id856ead80 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id8e7af5c http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id93a34dd9 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/id98880116 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/ida2e46ea4 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/ida4a8b443 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/ida6a9fa9d http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/idb9b67eed http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/idc2aac5b0 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/idc676aee3 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/idd3611ba6 http://rdf.wikipathways.org/Pathway/WP3584_r128284/WP/Interaction/idf2a25a0b https://identifiers.org/wikipathways/WP3584_r128284
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.w3.org/2004/02/skos/core#Collection
http://vocabularies.wikipathways.org/wp#Pathway
http://xmlns.com/foaf/0.1/page
http://www.wikipathways.org/instance/WP3584_r128284
http://purl.org/dc/elements/1.1/identifier
https://identifiers.org/wikipathways/WP3584
http://purl.org/dc/elements/1.1/source http://purl.org/dc/elements/1.1/title
MECP2 and associated Rett syndrome
http://purl.org/dc/terms/description
MECP2 (methyl-CpG binding protein 2) is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. MECP2 plays an important role in neuronal differentiation, maturation, morphology and function and influences synaptic plasticity. Mutations impairing the proper function of MECP2 are mainly associated with the Rett syndrome but may also contribute to other neurological disorders like schizophrenia, FASD (fetal alcohol syndrome), PPM-X-syndrome, autism, Prader-Will-syndrome, and Angelman-syndrome. Dependant on the cofactors MECP2 acts as an activator or repressor of transcription and micro RNA production. It affects RNA splicing and regulates chromatin structure together with HP1 and interferes in methylation of DNA (epigenetics). The expression of MECP2 itself is highly regulated by promotor elements, cis-regulatory elements, polyadenylation, promotor DNA methylation and miRNA.
Please cite this pathways as: http://www.wikipathways.org/instance/WP3584
Ehrhart et al. 2016 https://doi.org/10.1186/s13023-016-0545-5 - the pathway version in the paper is 90609.
Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP3584 CPTAC Assay Portal]
http://purl.org/dc/terms/identifier http://purl.org/dc/terms/references
https://identifiers.org/pubmed/24615633
http://purl.org/spar/cito/cites
https://identifiers.org/pubmed/25458568
https://identifiers.org/pubmed/20392956
https://identifiers.org/pubmed/18820302
https://identifiers.org/pubmed/19157421
https://identifiers.org/pubmed/21212100
https://identifiers.org/pubmed/27352031
https://identifiers.org/pubmed/20010955
https://identifiers.org/pubmed/20400852
https://identifiers.org/pubmed/20368621
https://identifiers.org/pubmed/28522374
https://identifiers.org/pubmed/20452318
https://identifiers.org/pubmed/20697302
https://identifiers.org/pubmed/20716963
https://identifiers.org/pubmed/18511691
https://identifiers.org/pubmed/21070191
https://identifiers.org/pubmed/21423409
https://identifiers.org/pubmed/22141737
https://identifiers.org/pubmed/16251272
https://identifiers.org/pubmed/16613900
https://identifiers.org/pubmed/23770565
https://identifiers.org/pubmed/22334035
https://identifiers.org/pubmed/22615490
https://identifiers.org/pubmed/24662006
https://identifiers.org/pubmed/24916645
https://identifiers.org/pubmed/10490655
https://identifiers.org/pubmed/23431031
https://identifiers.org/pubmed/17573714
https://identifiers.org/pubmed/23611944
https://identifiers.org/pubmed/23960241
https://identifiers.org/pubmed/24069510
https://identifiers.org/pubmed/18203756
https://identifiers.org/pubmed/24615633
http://vocabularies.wikipathways.org/wp#cellTypeOntologyTag
http://purl.obolibrary.org/obo/CL_0000127
http://purl.obolibrary.org/obo/CL_0000128
http://purl.obolibrary.org/obo/CL_0000129
http://vocabularies.wikipathways.org/wp#diseaseOntologyTag
http://purl.obolibrary.org/obo/DOID_1206
http://vocabularies.wikipathways.org/wp#isAbout
http://rdf.wikipathways.org/Pathway/WP3584_r128284
http://vocabularies.wikipathways.org/wp#ontologyTag
http://purl.obolibrary.org/obo/DOID_1206
http://purl.obolibrary.org/obo/CL_0000127
http://vocabularies.wikipathways.org/wp#Curation:RareDiseases
http://vocabularies.wikipathways.org/wp#Curation:Diseases
http://purl.obolibrary.org/obo/PW_0000013
http://purl.obolibrary.org/obo/CL_0000128
http://purl.obolibrary.org/obo/CL_0000129
http://vocabularies.wikipathways.org/wp#Curation:AnalysisCollection
http://vocabularies.wikipathways.org/wp#organism
http://purl.obolibrary.org/obo/NCBITaxon_9606
http://vocabularies.wikipathways.org/wp#organismName http://vocabularies.wikipathways.org/wp#pathwayOntologyTag
http://purl.obolibrary.org/obo/PW_0000013
http://xmlns.com/foaf/0.1/img
https://www.wikipathways.org//wpi/wpi.php?action=downloadFile&type=png&pwTitle=Pathway:WP3584&oldid=128284
https://www.wikipathways.org//wpi/wpi.php?action=downloadFile&type=svg&pwTitle=Pathway:WP3584&oldid=128284