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Gene: MECP2 (methyl-CpG binding protein 2) Homo sapiens
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Symbol: MECP2
Name: methyl-CpG binding protein 2
Description: 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 cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AUTSX3; DKFZp686A24160; meCp-2 protein; mental retardation, X-linked 16; mental retardation, X-linked 79; methyl CpG binding protein 2; methyl-CpG-binding protein 2; MRX16; MRX79; MRXS13; MRXSL; mutant methyl CpG binding protein 2; mutant methyl CpG binding protein 2 transcript 1; mutant methyl CpG binding protein 2 variant 1; PPMX; RS; RTS; RTT; testis tissue sperm-binding protein Li 41a
Orthologs:
Mus musculus (house mouse) : Mecp2 (methyl CpG binding protein 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mecp2 (methyl CpG binding protein 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mecp2 (methyl-CpG binding protein 2)
Pan paniscus (bonobo/pygmy chimpanzee) : MECP2 (methyl-CpG binding protein 2)
Canis lupus familiaris (dog) : MECP2 (methyl-CpG binding protein 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mecp2 (methyl-CpG binding protein 2)
Sus scrofa (pig) : MECP2 (methyl-CpG binding protein 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,021,800 - 154,097,731 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,287,025 - 153,363,188 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,940,458 - 153,016,323 (-)NCBINCBI36hg18NCBI36
Build 34X152,808,110 - 152,883,976NCBI
CeleraX153,520,969 - 153,596,868 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,928,231 - 142,007,659 (-)NCBIHuRef
CHM1_1X153,161,670 - 153,237,718 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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