Identity
HGNC
LOCATION
Xq28
LOCUSID
ALIAS
AUTSX3,MRX16,MRX79,MRXS13,MRXSL,PPMX,RS,RTS,RTT
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4204
MIM: 300005
HGNC: 6990
Ensembl: ENSG00000169057
Variants:
dbSNP: 4204
ClinVar: 4204
TCGA: ENSG00000169057
COSMIC: MECP2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38110111 | 2024 | A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways. | 0 |
| 38373942 | 2024 | Genetic analysis of a pedigree with MECP2 duplication syndrome in China. | 0 |
| 38448019 | 2024 | [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome]. | 0 |
| 38578457 | 2024 | CRL4(DCAF13) E3 ubiquitin ligase targets MeCP2 for degradation to prevent DNA hypermethylation and ensure normal transcription in growing oocytes. | 0 |
| 38697112 | 2024 | MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. | 0 |
| 38704863 | 2024 | Methyl-CpG-binding protein 2 regulates CYP27A1-induced myometrial contraction during preterm labor. | 0 |
| 38110111 | 2024 | A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways. | 0 |
| 38373942 | 2024 | Genetic analysis of a pedigree with MECP2 duplication syndrome in China. | 0 |
| 38448019 | 2024 | [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome]. | 0 |
| 38578457 | 2024 | CRL4(DCAF13) E3 ubiquitin ligase targets MeCP2 for degradation to prevent DNA hypermethylation and ensure normal transcription in growing oocytes. | 0 |
| 38697112 | 2024 | MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. | 0 |
| 38704863 | 2024 | Methyl-CpG-binding protein 2 regulates CYP27A1-induced myometrial contraction during preterm labor. | 0 |
| 36640327 | 2023 | Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation. | 7 |
| 36724557 | 2023 | Human MECP2 transgenic rats show increased anxiety, severe social deficits, and abnormal prefrontal neural oscillation stability. | 3 |
| 36827184 | 2023 | DDX47, MeCP2, and other functionally heterogeneous factors protect cells from harmful R loops. | 7 |
Citation
Dessen P
MECP2 (methyl-CpG binding protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/41330/mecp2
