MECP2 methyl CpG binding protein 2 (Rett syndrome) [Homo sapiens (human)]
| Gene Symbol | MECP2 |
| Entrez Gene ID | 4204 |
| Full Name | methyl CpG binding protein 2 (Rett syndrome) |
| Synonyms | AUTSX3, DKFZp686A24160, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
X Xq28 |
| 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]. |
| Disorder | MIM: 300005 Rett syndrome, 312750 (3); Mental retardation, X-linked, syndromic |
| mRNA | NM_004992, 160707948 |
| Protein | NP_004983, 4826830 |
| Product | methyl-CpG-binding protein 2 isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001110792, 160707949 |
| Protein | NP_001104262, 160707950 |
| Product | methyl-CpG-binding protein 2 isoform 2 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | MECP2 | NP_001104262.1 |
| Pan troglodytes (chimpanzee) | MECP2 | XP_521333.2 |
| Canis lupus familiaris (dog) | MECP2 | XP_853488.1 |
| Bos taurus (cattle) | MECP2 | XP_588477.4 |
| Mus musculus (house mouse) | Mecp2 | NP_001075448.1 |
| Rattus norvegicus (Norway rat) | Mecp2 | NP_073164.1 |
| Danio rerio (zebrafish) | mecp2 | NP_997901.1 |
| ID | Name | Evidence |
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | TAS |
| GO:0045892 | negative regulation of transcription, DNA-dependent | IDA |
Component
| ID | Name | Evidence |
| GO:0000792 | heterochromatin | IDA |
| GO:0005634 | nucleus | IDA |
Function
| ID | Name | Evidence |
| GO:0003677 | DNA binding | IEA |
| GO:0003714 | transcription corepressor activity | TAS |
| GO:0005515 | protein binding | IPI |
| GO:0010385 | double-stranded methylated DNA binding | IMP |
| GO:0019904 | protein domain specific binding | IPI |
| GO:0047485 | protein N-terminus binding | IPI |
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