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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 a) X-linked mental retardation, syndromic 13 b) 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

Related

DNA methylation (promoter methylation) histone deacetylase mecp2 gene Rett syndrome

General

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

Properties

SIZE: entity length = 486 aa MW = 52 kD COMPARTMENT: cell nucleus MOTIF: Ser phosphorylation site {S80} MBD {90-162} MOTIF: Ser phosphorylation site {S116} A+T hook SITE: 185-197 Ser phosphorylation site {S229} A+T hook SITE: 265-277 histidine-rich region {366-372} MOTIF: histidine residue (SEVERAL) proline-rich region SITE: 376-405 MOTIF: proline residue (SEVERAL) Ser phosphorylation site {S423} Ser phosphorylation site {S426}

Database Correlations

OMIM correlations MORBIDMAP 300005 UniProt P51608 PFAM correlations Entrez Gene 4204

References

  1. Cancer, Principles & Practice of Oncology, 6th ed. DeVita et al (eds), Lippincot & Williams, Philadelphia, 2001, pg 492
  2. Fuks F et al, 24:88 Nature Genetics 24:88, 2000 PMID: 10615135
  3. UniProt :accession P51608
  4. RettBASE; Note: IRSA MECP2 variation database http://mecp2.chw.edu.au/mecp2/
  5. Genedis; Note: Rett syndrome website http://life2.tau.ac.il/genedis/Tables/Rett/rtt.html
  6. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=MECP2