MECP2 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MECP2 (HGNC:6990) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- methyl-CpG binding protein 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- RTT, MRX16, MRX79
- Alias symbols
- No aliases found
- %HI
- 1.39(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.89(Read more about gnomAD pLI score)
- LOEUF
- 0.41(Read more about gnomAD LOEUF score)
- Cytoband
- Xq28
- Genomic Coordinates
-
GRCh37/hg19: chrX:153287024-153363174 NCBI Ensembl UCSC GRCh38/hg38: chrX:154021573-154097717 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001110792.2 ENST00000453960.7 (Read more about MANE Select)
- MANE Plus Clinical Transcript(s)
-
NM_004992.4 ENST00000303391.11 (Read more about MANE Plus Clinical) - 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). {ECO:0000250|UniProtKB:Q9Z2D6}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- Rett syndrome Monarch
-
PUBMED:
31206249
In 2019, Vidal, et al. used multiplex litigation-dependent probe amplification (MLPA) and qPCR on 14 individuals with Rett Syndrome. Analysis identified de novo deletions in the MECP2 gene in all 14 individuals. Five patients have deletions in the exon 4 and nine patients had deletions in exons 3 and 4.
-
PUBMED:
10508514
In 1999, Amir, et al. used conformation sensitive gel electrophoresis on 29 individuals with Rett Syndrome. 2 individuals had de novo deletions (one frameshift and one nonsense) in the MECP2 gene and 27 individuals had missense variations.
-
PUBMED:
16647997
In 2005, Bienvenu, et al. used PCR on 424 French individuals with clinically diagnosed Rett Syndrome. All 424 individuals had variations in the MECP2 gene with a total of 121 different variations identified including missense, nonsense, insertions and deletions.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
- syndromic X-linked intellectual disability Lubs type Monarch
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.