NP_001104262.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
methyl-CpG-binding protein 2 isoform 2
NCBI Official Synonym Full Names
methyl CpG binding protein 2 (Rett syndrome)
NCBI Official Synonym Symbols
RS; RTS; RTT; PPMX; MRX16; MRX79; MRXSL; AUTSX3; MRXS13 [Similar Products]
NCBI Protein Information
methyl-CpG-binding protein 2; meCp-2 protein
UniProt Protein Name
Methyl-CpG-binding protein 2
UniProt Synonym Gene Names
UniProt Entry Name
MECP2_HUMAN
NCBI Summary for MECP2
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq, Jul 2009]
UniProt Comments for MECP2
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.
Subunit structure: Interacts with FNBP3
By similarity. Interacts with CDKL5. Ref.14
Subcellular location: Nucleus. Note: Colocalized with methyl-CpG in the genome.
Tissue specificity: Present in all adult somatic tissues tested.
Post-translational modification: Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation
By similarity.
Involvement in disease: 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.Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.36 Ref.40Mental 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.26 Ref.28 Ref.38 Ref.44 Ref.48 Ref.49 Ref.50 Ref.54 Ref.58Rett 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.24 Ref.25 Ref.27 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.39 Ref.40 Ref.42 Ref.43 Ref.49 Ref.51 Ref.52 Ref.53 Ref.56Autism, 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.Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.55Encephalopathy, 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.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. Ref.41Mental 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.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. Ref.57
Sequence similarities: Contains 2 A.T hook DNA-binding domains.Contains 1 MBD (methyl-CpG-binding) domain.
Sequence caution: The sequence CAD97991.1 differs from that shown. Reason: Erroneous initiation.
Product References and Citations for anti-MECP2 antibody
• Tao J, Hu K, Chang Q, Wu H, Sherman NE, Martinowich K, Klose RJ, Schanen C, Jaenisch R, Wang W, Sun YE (2009) Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function. Proc Natl Acad Sci U S A.106(12):4882-7.
Research Articles on MECP2
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Products associated with anti-MECP2 antibody
Pathways associated with anti-MECP2 antibody
Diseases associated with anti-MECP2 antibody
Organs/Tissues associated with anti-MECP2 antibody
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