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MECP2 methyl CpG binding protein 2 (Rett syndrome) [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001110792 Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 2, mRNA. ORF Sequence $434.13
Peptide Services
Antibody Services
Protein Services
NM_004992 Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA. ORF Sequence $423.69
Peptide Services
Antibody Services
Protein Services


Gene Symbol MECP2
Entrez Gene ID 4204
Full Name methyl CpG binding protein 2 (Rett syndrome)
Synonyms AUTSX3, DKFZp686A24160, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq28

Summary 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].
Disorder

MIM: 300005

Rett syndrome, 312750 (3); Mental retardation, X-linked, syndromic

mRNA Protein Product Sequence Price Select
NM_001110792, 160707949 NP_001104262, 160707950 methyl-CpG-binding protein 2 isoform 2 Full Length $502.86
ORF Sequence $434.13
NM_004992, 160707948 NP_004983, 4826830 methyl-CpG-binding protein 2 isoform 1 Full Length $0.00
ORF Sequence $423.69
WikiPathways
WP706SIDS Susceptibility Pathways
Homo sapiens (human)MECP2NP_001104262.1
Pan troglodytes (chimpanzee)MECP2XP_521333.3
Macaca mulatta (Rhesus monkey)MECP2XP_001088566.2
Canis lupus familiaris (dog)MECP2XP_003435601.1
Bos taurus (cattle)MECP2NP_001193481.1
Mus musculus (house mouse)Mecp2NP_001075448.1
Rattus norvegicus (Norway rat)Mecp2NP_073164.2
Danio rerio (zebrafish)mecp2NP_997901.1
GeneCards MECP2
PDB 1QK9, 3C2I
UniProt P51608, Q59FJ6, D3YJ43
MIM 300005
Ensembl ENSG00000169057
HGNC 6990
HPRD 02050

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
methyl-CpG-binding protein 2
Names
methyl-CpG-binding protein 2
meCp-2 protein

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