InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MECP2

Summary

InnateDB Protein

IDBP-90812.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MECP2

Protein Name

methyl CpG binding protein 2 (Rett syndrome)

Synonyms

AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT;

Species

Homo sapiens

Ensembl Protein

ENSP00000301948

InnateDB Gene

IDBG-90808 (MECP2)

Protein Structure

UniProt Annotation

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) (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus. Note=Colocalized with methyl-CpG in the genome.

Disease Associations

Angelman syndrome (AS) [MIM:105830]: 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. {ECO:0000269PubMed:11283202}. Note=The disease may be caused by mutations affecting the gene represented in this entry.Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]: 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 mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism. {ECO:0000269PubMed:10986043, ECO:0000269PubMed:11007980, ECO:0000269PubMed:11309367, ECO:0000269PubMed:11805248, ECO:0000269PubMed:11885030, ECO:0000269PubMed:12161600, ECO:0000269PubMed:12325019, ECO:0000269PubMed:12615169, ECO:0000269PubMed:16966553}. Note=The disease is caused by mutations affecting the gene represented in this entry.Rett syndrome (RTT) [MIM:312750]: An X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation 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, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. {ECO:0000269PubMed:10508514, ECO:0000269PubMed:10577905, ECO:0000269PubMed:10745042, ECO:0000269PubMed:10767337, ECO:0000269PubMed:10814719, ECO:0000269PubMed:10944854, ECO:0000269PubMed:10991688, ECO:0000269PubMed:10991689, ECO:0000269PubMed:11055898, ECO:0000269PubMed:11241840, ECO:0000269PubMed:11269512, ECO:0000269PubMed:11283202, ECO:0000269PubMed:11376998, ECO:0000269PubMed:11402105, ECO:0000269PubMed:11706982, ECO:0000269PubMed:11738883, ECO:0000269PubMed:12161600, ECO:0000269PubMed:12567420, ECO:0000269PubMed:12966522, ECO:0000269PubMed:12966523, ECO:0000269PubMed:15034579, ECO:0000269PubMed:15057977}. Note=The disease is caused by mutations affecting the gene represented in this entry.Autism, X-linked 3 (AUTSX3) [MIM:300496]: 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 mental retardation. {ECO:0000269PubMed:12770674}. Note=The disease may be caused by mutations affecting the gene represented in this entry.Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2) [MIM:300673]: A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements. {ECO:0000269PubMed:11238684}. Note=The disease is caused by mutations affecting the gene represented in this entry. The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.Mental retardation, X-linked, syndromic, Lubs type (MRXSL) [MIM:300260]: 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 mental retardation 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. {ECO:0000269PubMed:16080119}. Note=The disease is caused by mutations affecting the gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype.

Tissue Specificity

Present in all adult somatic tissues tested.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 65 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.

Experimentally validated
Total	70 [view]
Protein-Protein	58 [view]
Protein-DNA	10 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003714	transcription corepressor activity
GO:0005515	protein binding
GO:0010385	double-stranded methylated DNA binding
GO:0019904	protein domain specific binding
GO:0044822	poly(A) RNA binding
GO:0047485	protein N-terminus binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006351	transcription, DNA-templated
GO:0045892	negative regulation of transcription, DNA-templated