AlphaFold predicted structure
MECP2 · P51608
Mean pLDDT
56.6/ 100
Low
486 residues
Confidence breakdown
- Very high(≥ 90)8%
- Confident(70–90)9%
- Low(50–70)42%
- Very low(< 50)42%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MECP2
Chr Xq28methyl-CpG binding protein 2
- MANE:
- ENST00000453960.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Severe microcephaly
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Disease associations (Open Targets)
Rett syndrome
0.88X-linked intellectual disability-psychosis-macroorchidism syndrome
0.81severe neonatal-onset encephalopathy with microcephaly
0.79syndromic X-linked intellectual disability Lubs type
0.77X-linked intellectual disability - psychosis - macroorchidism
0.76atypical Rett syndrome
0.73Angelman syndrome
0.64Intellectual disability
0.56hereditary disease
0.56Neurodevelopmental delay
0.52
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Methyl-CpG-binding protein 2
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)
Diseases associated with MECP2
Curated MONDO disease pages that list MECP2 among their top associated genes.