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Gene Ontology Classifications
Symbol
Name
ID
Mecp2
methyl CpG binding protein 2
MGI:99918

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Mecp2. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of October 15, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. . () , :. (PubMed:)
  2. Asaka Y et al. (2006) Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome. Neurobiol Dis, 21:217-27. (PubMed:16087343)
  3. Bissonnette JM et al. (2007) Autonomic cardiovascular control in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Auton Neurosci, 136:82-9. (PubMed:17544925)
  4. Chahrour M et al. (2008) MeCP2, a key contributor to neurological disease, activates and represses transcription. Science, 320:1224-9. (PubMed:18511691)
  5. Chao HT et al. (2007) MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron, 56:58-65. (PubMed:17920015)
  6. Craig JM et al. (2003) Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns. Hum Mol Genet, 12:3109-21. (PubMed:14519686)
  7. Gemelli T et al. (2006) Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice. Biol Psychiatry, 59:468-76. (PubMed:16199017)
  8. Guy J et al. (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet, 27:322-6. (PubMed:11242117)
  9. Harikrishnan KN et al. (2005) Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing. Nat Genet, 37:254-64. (PubMed:15696166)
  10. Horike S et al. (2005) Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet, 37:31-40. (PubMed:15608638)
  11. Ide S et al. (2005) Defect in normal developmental increase of the brain biogenic amine concentrations in the mecp2-null mouse. Neurosci Lett, 386:14-7. (PubMed:15975715)
  12. Jeffery L et al. (2004) Components of the DNA methylation system of chromatin control are RNA-binding proteins. J Biol Chem, 279:49479-87. (PubMed:15342650)
  13. Kishi N et al. (2004) MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions. Mol Cell Neurosci, 27:306-21. (PubMed:15519245)
  14. Kojic S et al. (2010) A novel role for cardiac ankyrin repeat protein Ankrd1/CARP as a co-activator of the p53 tumor suppressor protein. Arch Biochem Biophys, 502:60-7. (PubMed:20599664)
  15. Kriaucionis S et al. (2004) The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res, 32:1818-23. (PubMed:15034150)
  16. Kriaucionis S et al. (2006) Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome. Mol Cell Biol, 26:5033-42. (PubMed:16782889)
  17. Kumar A et al. (2008) Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo. J Cell Sci, 121:1128-37. (PubMed:18334558)
  18. Makedonski K et al. (2005) MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Hum Mol Genet, 14:1049-58. (PubMed:15757975)
  19. Martinowich K et al. (2003) DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science, 302:890-3. (PubMed:14593184)
  20. Matarazzo V et al. (2004) The transcriptional repressor Mecp2 regulates terminal neuronal differentiation. Mol Cell Neurosci, 27:44-58. (PubMed:15345242)
  21. McGill BE et al. (2006) Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A, 103:18267-72. (PubMed:17108082)
  22. Moretti P et al. (2006) Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci, 26:319-27. (PubMed:16399702)
  23. Nagai K et al. (2005) A transcriptional repressor MeCP2 causing Rett syndrome is expressed in embryonic non-neuronal cells and controls their growth. Brain Res Dev Brain Res, 157:103-6. (PubMed:15939091)
  24. Nan X et al. (2007) Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proc Natl Acad Sci U S A, 104:2709-14. (PubMed:17296936)
  25. Nomura T et al. (2008) MeCP2-dependent repression of an imprinted miR-184 released by depolarization. Hum Mol Genet, 17:1192-9. (PubMed:18203756)
  26. Palmer A et al. (2008) MeCP2 mutation causes distinguishable phases of acute and chronic defects in synaptogenesis and maintenance, respectively. Mol Cell Neurosci, 37:794-807. (PubMed:18295506)
  27. Pelka GJ et al. (2006) Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. Brain, 129:887-98. (PubMed:16467389)
  28. Rountree MR et al. (2000) DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci. Nat Genet, 25:269-77. (PubMed:10888872)
  29. Ruddock-D'Cruz NT et al. (2008) Dynamic changes in the localization of five members of the methyl binding domain (MBD) gene family during murine and bovine preimplantation embryo development. Mol Reprod Dev, 75:48-59. (PubMed:17546630)
  30. Russell JC et al. (2007) Enhanced cell death in MeCP2 null cerebellar granule neurons exposed to excitotoxicity and hypoxia. Neuroscience, 150:563-74. (PubMed:17997046)
  31. Samaco RC et al. (2008) A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet, 17:1718-27. (PubMed:18321864)
  32. Shahbazian MD et al. (2002) Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet, 11:115-24. (PubMed:11809720)
  33. Smrt RD et al. (2007) Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons. Neurobiol Dis, 27:77-89. (PubMed:17532643)
  34. Tate P et al. (1996) The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse. Nat Genet, 12:205-8. (PubMed:8563762)
  35. Viemari JC et al. (2005) Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci, 25:11521-30. (PubMed:16354910)
  36. Viola A et al. (2007) Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model. PLoS ONE, 2:e157. (PubMed:17237885)
  37. Wang H et al. (2006) Dysregulation of brain-derived neurotrophic factor expression and neurosecretory function in Mecp2 null mice. J Neurosci, 26:10911-5. (PubMed:17050729)
  38. Ward BC et al. (2008) Longitudinal brain MRI study in a mouse model of Rett Syndrome and the effects of choline. Neurobiol Dis, 31:110-9. (PubMed:18571096)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory