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Description for Protein MECP2

methyl CpG binding protein 2 (Rett syndrome)
23 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • MBD: Methyl-CpG binding domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K11588
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    PPMX; MRX16; MRX79; RTT
    Approved Symbol:
    MECP2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 23
    Human (de-) phosphorylation sites: 23; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Angelman syndrome(Pd);
  • Encephalopathy, nonprogressive, neonatal-onset(Pd);
  • Mental retardation, X-linked 16(Pd);
  • Mental retardation, X-linked, with progressive spasticity(Pd);
  • Rett syndrome(Pd);
  • Rett syndrome, preserved speech variant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02050 Entrez Gene ID: 4204 OMIM ID: 300005 Swissprot Accession: P51608; Q59FJ6;