MECP2
Sign in to saveAlso known as AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS
MECP2 (methyl CpG binding protein 2) is a gene that encodes the protein MECP2. MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels. The MECP2 protein is likely to be involved in turning off ("repressing" or "silencing") several other genes. This prevents the genes from making proteins when they are not needed. Recent work has shown that MECP2 can also activate other genes. The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pai
Gene data
MECP2- Name
- methyl-CpG binding protein 2
- Type
- protein-coding
- Chromosome
- X
- Position
- 154,021,573–154,137,103 (−)
- Aliases
- AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
- Ensembl
- ENSG00000169057
- RefSeq RNA
- NM_001110792.2, NM_001316337.2, NM_001369391.2, NM_001369392.2, NM_001369393.2
- RefSeq protein
- NP_001104262.1, NP_001303266.1, NP_001356320.1, NP_001356321.1, NP_001356322.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
methyl-CpG binding protein 2
- Symbol
- MECP2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:154,021,573-154,137,103
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein MECP2 PDB 1qk9.png
Show 5 more facts
- HomoloGene ID
- 3657
- exact match
- identifiers.org/ncbigene/4204
- genomic start
- 153287024
- genomic end
- 153363212
- cytogenetic location
- Xq28
Sources (7)
via Wikidata · CC0
~11 min read
Article
11 sectionsContents
- Function
- Mechanism of action
- Structure
- Role in disease
- Interactive pathway map
- Interactions
- MeCP2 and hormones
- Early life stress
- References
- Further reading
- External links
MECP2 (methyl CpG binding protein 2) is a gene that encodes the protein MECP2. MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels. The MECP2 protein is likely to be involved in turning off ("repressing" or "silencing") several other genes. This prevents the genes from making proteins when they are not needed. Recent work has shown that MECP2 can also activate other genes. The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611.
MECP2 is an important reader of DNA methylation. Its methyl-CpG-binding (MBD) domain recognizes and binds 5-mC regions. MECP2 is X-linked and subject to X inactivation. 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. At least 53 disease-causing mutations in this gene have been discovered.