View MECP2 gene homepage

General information
Gene symbol MECP2
Gene name methyl CpG binding protein 2 (Rett syndrome)
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference NG_007107.2
Transcript reference NM_001110792.1, NM_004992.3
Exon/intron information NM_004992.3
Associated with diseases AS, AUTSX-3, ID, MRX-13, MRXSL, RTT, encephalopathy, neonatal, severe
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Henk van Kranen
Total number of public variants reported 4496
Unique public DNA variants reported 745
Individuals with public variants 4339
Hidden variants 3
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated May 06, 2016
Version MECP2:160506

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/MECP2
External URL Orphanet
"RettBASE"
NCBI MECP2 Variation Viewer
HGNC 6990
Entrez Gene 4204
PubMed articles MECP2
OMIM - Gene 300005
OMIM - Diseases AS (Angelman syndrome (AS))
AUTSX-3 (autism, susceptibility to, X-linked, type 3 (AUTSX-3))
MRX-13 (mental retardation, X-linked, syndromic, type 13 (MRX-13))
MRXSL (mental retardation, X-linked syndromic, Lubs type (MRXSL))
RTT (Rett syndrome (RTT))
encephalopathy, neonatal, severe
HGMD MECP2
GeneCards MECP2
GeneTests MECP2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000067 X methyl CpG binding protein 2 (Rett syndrome) NM_004992.3 NP_004983.1 4441
00024031 X transcript variant 2 NM_001110792.1 NP_001104262.1 67


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