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Methyl CpG Binding Protein 2 (MECP2)

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RTS; AUTSX3; MRX16; MRX79; PPMX; RTT; Rett Syndrome; Mental Retardation,X-linked 16

Methyl CpG Binding Protein 2 (MECP2)
CCC C616
HGNC 6990
MGI 99918
PubMed 18511691
RGD 3075
UniProt P51608
Wiki MECP2
MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels. The MeCP2 protein is likely to be involved in turning off ("repressing" or "silencing") several other genes. This prevents the genes from making proteins when they are not needed. Recent work has shown that MeCP2 can also activate other genes.The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611. MECP2 is dispensible in stem cells. MECP2 gene mutations are the cause of some cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC616Hu01 Recombinant Methyl CpG Binding Protein 2 (MECP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC616Hu01 Polyclonal Antibody to Methyl CpG Binding Protein 2 (MECP2) WB; IHC; ICC; IP.
MAC616Hu21 Monoclonal Antibody to Methyl CpG Binding Protein 2 (MECP2) WB; IHC; ICC; IP.
MAC616Hu22 Monoclonal Antibody to Methyl CpG Binding Protein 2 (MECP2) WB; IHC; ICC; IP.
MAC616Hu23 Monoclonal Antibody to Methyl CpG Binding Protein 2 (MECP2) WB
MAC616Hu24 Monoclonal Antibody to Methyl CpG Binding Protein 2 (MECP2) WB; IHC; ICC; IP.
Assay Kits SEC616Hu ELISA Kit for Methyl CpG Binding Protein 2 (MECP2) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC616Mu01 Recombinant Methyl CpG Binding Protein 2 (MECP2) Positive Control; Immunogen; SDS-PAGE; WB.
RPC616Mu02 Recombinant Methyl CpG Binding Protein 2 (MECP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC616Mu01 Polyclonal Antibody to Methyl CpG Binding Protein 2 (MECP2) WB; IHC; ICC; IP.
PAC616Mu02 Polyclonal Antibody to Methyl CpG Binding Protein 2 (MECP2) WB; IHC; ICC; IP.
Assay Kits SEC616Mu ELISA Kit for Methyl CpG Binding Protein 2 (MECP2) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Methyl CpG Binding Protein 2 (MECP2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Methyl CpG Binding Protein 2 (MECP2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Methyl CpG Binding Protein 2 (MECP2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Methyl CpG Binding Protein 2 (MECP2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Methyl CpG Binding Protein 2 (MECP2) ELISA Kit Customized Service Offer
  1. "Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated."Mol. Cell. Biol. 18:5492-5499(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization."Cytogenet. Cell Genet. 74:293-294(1996) [PubMed] [Europe PMC] [Abstract]
  3. "A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3'-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression."Hum. Mol. Genet. 8:1253-1262(1999) [PubMed] [Europe PMC] [Abstract]
  4. "Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions."Mamm. Genome 11:182-190(2000) [PubMed] [Europe PMC] [Abstract]
  5. "A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome."Nat. Genet. 36:339-341(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2."Mamm. Genome 7:533-535(1996) [PubMed] [Europe PMC] [Abstract]
  10. "The major form of MeCP2 has a novel N-terminus generated by alternative splicing."Nucleic Acids Res. 32:1818-1823(2004) [PubMed] [Europe PMC] [Abstract]
  11. "Mutations and polymorphisms in the human methyl CpG-binding protein MECP2."Hum. Mutat. 22:107-115(2003) [PubMed] [Europe PMC] [Abstract]
  12. "CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome."Hum. Mol. Genet. 14:1935-1946(2005) [PubMed] [Europe PMC] [Abstract]
  13. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
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  15. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  16. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  17. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  18. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  19. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  20. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  21. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  22. "The solution structure of the domain from MeCP2 that binds to methylated DNA."J. Mol. Biol. 291:1055-1065(1999) [PubMed] [Europe PMC] [Abstract]
  23. "Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots."Am. J. Hum. Genet. 65:1520-1529(1999) [PubMed] [Europe PMC] [Abstract]
  24. "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2."Nat. Genet. 23:185-188(1999) [PubMed] [Europe PMC] [Abstract]
  25. "A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males."Am. J. Hum. Genet. 67:982-985(2000) [PubMed] [Europe PMC] [Abstract]
  26. "Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms."Am. J. Hum. Genet. 67:1428-1436(2000) [PubMed] [Europe PMC] [Abstract]
  27. "MECP2 mutation in male patients with non-specific X-linked mental retardation."FEBS Lett. 481:285-288(2000) [PubMed] [Europe PMC] [Abstract]
  28. "Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location."Hum. Mol. Genet. 9:1119-1129(2000) [PubMed] [Europe PMC] [Abstract]
  29. "MECP2 mutations account for most cases of typical forms of Rett syndrome."Hum. Mol. Genet. 9:1377-1384(2000) [PubMed] [Europe PMC] [Abstract]
  30. "Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome."J. Hum. Genet. 45:231-236(2000) [PubMed] [Europe PMC] [Abstract]
  31. "Mutation screening in Rett syndrome patients."J. Med. Genet. 37:250-255(2000) [PubMed] [Europe PMC] [Abstract]
  32. "Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome."J. Med. Genet. 37:608-610(2000) [PubMed] [Europe PMC] [Abstract]
  33. "Mutations in the MECP2 gene in a cohort of girls with Rett syndrome."J. Med. Genet. 37:610-612(2000) [PubMed] [Europe PMC] [Abstract]
  34. "Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation."Ann. Neurol. 50:692-692(2001) [PubMed] [Europe PMC] [Abstract]
  35. "Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome."Brain Dev. 23:212-215(2001) [PubMed] [Europe PMC] [Abstract]
  36. "Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation."Brain Dev. 23:S242-S245(2001) [PubMed] [Europe PMC] [Abstract]
  37. "MECP2 is highly mutated in X-linked mental retardation."Hum. Mol. Genet. 10:941-946(2001) [PubMed] [Europe PMC] [Abstract]
  38. "Mutation spectrum in patients with Rett syndrome in the German population: evidence of hot spot regions."Hum. Mutat. 17:183-190(2001) [PubMed] [Europe PMC] [Abstract]
  39. "Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein."J. Med. Genet. 38:224-228(2001) [PubMed] [Europe PMC] [Abstract]
  40. "MECP2 mutation in non-fatal, non-progressive encephalopathy in a male."J. Med. Genet. 38:171-174(2001) [PubMed] [Europe PMC] [Abstract]
  41. "Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females." J. Mol. Med. 78:648-655(2001) [PubMed] [Europe PMC] [Abstract]
  42. "MeCP2 mutations in children with and without the phenotype of Rett syndrome."Neurology 56:1486-1495(2001) [PubMed] [Europe PMC] [Abstract]
  43. "A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome."Am. J. Hum. Genet. 70:1034-1037(2002) [PubMed] [Europe PMC] [Abstract]
  44. "Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling."Eur. J. Hum. Genet. 10:86-89(2002) [PubMed] [Europe PMC] [Abstract]
  45. "Low frequency of MECP2 mutations in mentally retarded males."Eur. J. Hum. Genet. 10:487-490(2002) [PubMed] [Europe PMC] [Abstract]
  46. "Mutation analysis of the coding sequence of the MECP2 gene in infantile autism."Hum. Genet. 111:305-309(2002) [PubMed] [Europe PMC] [Abstract]
  47. "Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?"Hum. Mutat. 20:249-252(2002) [PubMed] [Europe PMC] [Abstract]
  48. "MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution."J. Med. Genet. 39:586-588(2002) [PubMed] [Europe PMC] [Abstract]
  49. "A Rett syndrome MECP2 mutation that causes mental retardation in men."Neurology 58:226-230(2002) [PubMed] [Europe PMC] [Abstract]
  50. "Mutation analysis of the MECP2 gene in patients with Rett syndrome."Am. J. Med. Genet. A 117:184-187(2003) [PubMed] [Europe PMC] [Abstract]
  51. "Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation."Am. J. Med. Genet. A 122:223-226(2003) [PubMed] [Europe PMC] [Abstract]
  52. "Rett syndrome in adolescent and adult females: clinical and molecular genetic findings."Am. J. Med. Genet. A 122:227-233(2003) [PubMed] [Europe PMC] [Abstract]
  53. "Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)."Eur. J. Paediatr. Neurol. 7:5-12(2003) [PubMed] [Europe PMC] [Abstract]
  54. "Identification of MeCP2 mutations in a series of females with autistic disorder."Pediatr. Neurol. 28:205-211(2003) [PubMed] [Europe PMC] [Abstract]
  55. "Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome."Am. J. Med. Genet. A 126:129-140(2004) [PubMed] [Europe PMC] [Abstract]
  56. "Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males."Am. J. Hum. Genet. 77:442-453(2005) [PubMed] [Europe PMC] [Abstract]
  57. "A novel familial MECP2 mutation in a young boy: clinical and molecular findings."Neurology 67:867-868(2006) [PubMed] [Europe PMC] [Abstract]
  58. "Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation."Proc. Natl. Acad. Sci. U.S.A. 104:2709-2714(2007) [PubMed] [Europe PMC] [Abstract]