methyl-CpG-binding protein 2; MeCP-2 protein; MeCP2 (MECP2)

Function

• chromosomal protei
• binds to methylated DNA
• can bind specifically to a single methyl-CpG pair
• not influenced by sequences flanking the methyl-CpGs
• mediates transcriptional repression through interaction with histone deacetylase & the corepressor SIN3A
• phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity & seems to regulate dendritic growth & spine maturation (putative)
• interacts with FNBP3 (putative)

Structure

• contains 2 A.T hook DNA-binding domains
• contains 1 MBD (methyl-CpG-binding) domain

Compartment

• nucleus
• colocalized with methyl-CpG in the genome

Alternative splicing

named isoforms=2; A (beta); B; (alpha)

Expression

• present in all adult somatic tissues tested
• isoform B expressed in brain 10-fold that of isoform A

Pathology

• defects in MECP2 may be a cause of Angelman syndrome
• defects in MECP2 are the cause of
  • X-linked mental retardation, syndromic 13
  • Rett syndrome
• defects in MECP2 may be the cause of susceptibility to X-linked autism 3
• chromosomal duplication involving MECP2 is the cause of mental retardation, X-linked, syndromic, Lubs type

More general terms

• methyl-CpG-binding protein (MECP, Me-CpG-BP)
• phosphoprotein

Additional terms

• DNA methylation (promoter methylation)
• histone deacetylase
• Rett syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4204
• OMIM: https://mirror.omim.org/entry/105830
• OMIM: https://mirror.omim.org/entry/300005
• OMIM: https://mirror.omim.org/entry/300055
• OMIM: https://mirror.omim.org/entry/300260
• OMIM: https://mirror.omim.org/entry/300496
• OMIM: https://mirror.omim.org/entry/300673
• OMIM: https://mirror.omim.org/entry/312750
• UniProt: http://www.uniprot.org/uniprot/P51608.html