Version: 8.0.0Date: Tue Jan 28 2025
Gene
MECP2
- Species
- Homo sapiens
- Symbol
- MECP2
- Name
- methyl-CpG binding protein 2
- Synonyms
- AUTSX3
- DKFZp686A24160
- Biotype
- protein coding gene
- Automated Description
- Enables double-stranded methylated DNA binding activity; molecular condensate scaffold activity; and transcription corepressor activity. Involved in several processes, including negative regulation of blood vessel endothelial cell migration; negative regulation of macromolecule biosynthetic process; and positive regulation of microtubule nucleation. Acts upstream of or within genomic imprinting. Located in centrosome; heterochromatin; and nucleoplasm. Implicated in Rett syndrome; autistic disorder; gastrointestinal system disease; severe congenital encephalopathy due to MECP2 mutation; and syndromic X-linked intellectual disability (multiple).
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR15074
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
Phenotype Term | Annotation details | References |
|---|---|---|
| No records match query. Try removing filters. | ||
Showing 0 - 0 of 0 rows
per page
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||
Showing 0 - 0 of 0 rows
per page
Sequence Feature Viewer
- Genome location
- ChrX:154021573...154137103 - (115.53 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.