| Synonyms: | MECP2, AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT |
| Background: | 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. Alternative splicing results in multiple transcript variants encoding different isoforms. |
| UniProt Protein Function: | 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). |
| NCBI 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015] |
| UniProt Code: | P51608 |
| NCBI GenInfo Identifier: | 1708973 |
| NCBI Gene ID: | 4204 |
| NCBI Accession: | P51608.1 |
| UniProt Secondary Accession: | P51608,O15233, Q6QHH9, Q7Z384, |
| UniProt Related Accession: | P51608 |
| Molecular Weight: | 53,323 Da |
| NCBI Full Name: | Methyl-CpG-binding protein 2 |
| NCBI Synonym Full Names: | methyl-CpG binding protein 2 |
| NCBI Official Symbol: | MECP2Â Â |
| NCBI Official Synonym Symbols: | RS; RTS; RTT; PPMX; MRX16; MRX79; MRXSL; AUTSX3; MRXS13Â Â |
| NCBI Protein Information: | methyl-CpG-binding protein 2 |
| UniProt Protein Name: | Methyl-CpG-binding protein 2 |
| Protein Family: | Methyl-CpG-binding protein |
| UniProt Gene Name: | MECP2Â Â |
| UniProt Entry Name: | MECP2_HUMAN |
