Aliases for MECP2 Gene
External Ids for MECP2 Gene
Previous HGNC Symbols for MECP2 Gene
Previous GeneCards Identifiers for MECP2 Gene
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]
GeneCards Summary for MECP2 Gene
MECP2 (Methyl-CpG Binding Protein 2) is a Protein Coding gene. Diseases associated with MECP2 include Rett Syndrome and Mental Retardation, X-Linked, Syndromic 13. Among its related pathways are Macrophage Differentiation and Growth Inhibition by METS and Cytosine methylation. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is MBD4.
UniProtKB/Swiss-Prot Summary for MECP2 Gene
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).