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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MECP2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4204
Official gene symbolMECP2
Full namemethyl CpG binding protein 2 (Rett syndrome)
Aliases,AUTSX3,DKFZp686A24160,MRX16,MRX79,MRXS13,MRXSL,PPMX,RS,RTS,RTT,
Gene summaryDNA 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]
LocationChromosome: X   Locus: Xq28
Gene position153363188 - 153287264  Map Viewer
Gene orientationminus
Gene size75925 bp
Gene sequence
OMIM ID300005