protein
Methyl-CpG-binding protein 2
aka MeCp-2 protein, MeCp2
Gene
MECP2
Organism
Homo sapiens(9606)
Length
486 aa
Mass
52,441 Da
# Methyl-CpG-binding protein 2 (MECP2)
Methyl-CpG-binding protein 2 is a chromosomal protein that binds specifically to methylated DNA, particularly at single methyl-CpG pairs (UniProt: P51608). It mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A, and binds both 5-methylcytosine and 5-hydroxymethylcytosine-containing DNA with preference for the former.
MECP2 mutations cause multiple X-linked neurodevelopmental disorders with intellectual disability as a core feature, including Rett syndrome, a severe condition marked by normal early development followed by regression in speech and motor function, and autism, X-linked 3 (UniProt: P51608). Additional disease associations include Angelman syndrome, neonatal severe encephalopathy due to MECP2 mutations, and syndromic intellectual developmental disorders.
MECP2 is classified as a category S (syndromic) gene in the SFARI gene database (SFARI Cat S), reflecting its established role in autism pathogenesis through multiple monogenic syndromic presentations. The protein's fundamental role in epigenetic gene regulation underlies its association with neurodevelopmental phenotypes.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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)
Disease associations
Angelman syndromeAS
A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue.
Intellectual developmental disorder, X-linked, syndromic 13MRXS13
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest intellectual disability associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.
Rett syndromeRTT
An X-linked dominant neurodevelopmental disorder, and one of the most common causes of intellectual disability in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, intellectual disability and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.
Autism, X-linked 3AUTSX3
A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.
Encephalopathy, neonatal severe, due to MECP2 mutationsENS-MECP2
A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, intellectual disability, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements.
Intellectual developmental disorder, X-linked, syndromic, Lubs typeMRXSL
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest intellectual disability associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge.
Sources
Last updated 5/6/2026, 5:25:07 AM