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MECP2 (methyl CpG binding protein 2)

Identity

Other namesAUTSX3
MRX16
MRX79
MRXS13
MRXSL
PPMX
RS
RTS
RTT
HGNC (Hugo) MECP2
LocusID (NCBI) 4204
Location Xq28
Location_base_pair Starts at 153295686 and ends at 153363188 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)MECP2   6990
Cards
Entrez_Gene (NCBI)MECP2  4204  methyl CpG binding protein 2
GeneCards (Weizmann)MECP2
Ensembl (Hinxton)ENSG00000169057 [Gene_View]  chrX:153295686-153363188 [Contig_View]  MECP2 [Vega]
ICGC DataPortalENSG00000169057
AceView (NCBI)MECP2
Genatlas (Paris)MECP2
WikiGenes4204
SOURCE (Princeton)NM_001110792 NM_004992
Genomic and cartography
GoldenPath (UCSC)MECP2  -  Xq28   chrX:153295686-153363188 -  Xq28   [Description]    (hg19-Feb_2009)
EnsemblMECP2 - Xq28 [CytoView]
Mapping of homologs : NCBIMECP2 [Mapview]
OMIM105830   300005   300055   300260   300496   300673   312750   
Gene and transcription
Genbank (Entrez)AB209464 AF158180 AJ132917 AK289444 AM392557
RefSeq transcript (Entrez)NM_001110792 NM_004992
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_007107 NT_011681 NW_001842419 NW_004929448
Consensus coding sequences : CCDS (NCBI)MECP2
Cluster EST : UnigeneHs.702514 [ NCBI ]
CGAP (NCI)Hs.702514
Alternative Splicing : Fast-db (Paris)GSHG0032426
Alternative Splicing GalleryENSG00000169057
Gene ExpressionMECP2 [ NCBI-GEO ]     MECP2 [ SEEK ]   MECP2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51608 (Uniprot)
NextProtP51608  [Medical]
With graphics : InterProP51608
Splice isoforms : SwissVarP51608 (Swissvar)
Domaine pattern : Prosite (Expaxy)MBD (PS50982)   
Domains : Interpro (EBI)AT_hook_DNA-bd_motif    DNA-bd_dom    Me_CpG-bd_MeCP2    Methyl_CpG_DNA-bd   
Related proteins : CluSTrP51608
Domain families : Pfam (Sanger)MBD (PF01429)   
Domain families : Pfam (NCBI)pfam01429   
Domain families : Smart (EMBL)AT_hook (SM00384)  MBD (SM00391)  
DMDM Disease mutations4204
Blocks (Seattle)P51608
PDB (SRS)1QK9    3C2I   
PDB (PDBSum)1QK9    3C2I   
PDB (IMB)1QK9    3C2I   
PDB (RSDB)1QK9    3C2I   
Human Protein AtlasENSG00000169057
Peptide AtlasP51608
HPRD02050
IPIIPI00418234   IPI00964558   IPI00645192   IPI01010228   IPI00852714   IPI01021519   IPI00816549   IPI00878746   IPI00893388   
Protein Interaction databases
DIP (DOE-UCLA)P51608
IntAct (EBI)P51608
FunCoupENSG00000169057
BioGRIDMECP2
IntegromeDBMECP2
STRING (EMBL)MECP2
Ontologies - Pathways
QuickGOP51608
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  heterochromatin  behavioral fear response  response to hypoxia  startle response  neurological system process involved in regulation of systemic arterial blood pressure  regulation of respiratory gaseous exchange by neurological system process  DNA binding  chromatin binding  sequence-specific DNA binding transcription factor activity  transcription corepressor activity  mRNA binding  protein binding  extracellular space  nucleus  cytosol  inositol metabolic process  mitochondrial electron transport, ubiquinol to cytochrome c  chromatin silencing  regulation of gene expression by genetic imprinting  transcription, DNA-templated  glutamine metabolic process  synapse assembly  respiratory gaseous exchange  long-term memory  protein localization  transcription factor binding  glucocorticoid metabolic process  positive regulation of cell proliferation  methyl-CpG binding  adult locomotory behavior  visual learning  pathogenesis  embryo development  post-embryonic development  double-stranded methylated DNA binding  dendrite development  histone methylation  histone acetylation  proprioception  sensory perception of pain  protein domain specific binding  cerebellum development  ventricular system development  negative regulation of histone methylation  cardiolipin metabolic process  negative regulation of histone acetylation  social behavior  siRNA binding  neuron maturation  negative regulation of neuron apoptotic process  poly(A) RNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  phosphatidylcholine metabolic process  protein N-terminus binding  catecholamine secretion  positive regulation of synapse assembly  regulation of excitatory postsynaptic membrane potential  long-term synaptic potentiation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  heterochromatin  behavioral fear response  response to hypoxia  startle response  neurological system process involved in regulation of systemic arterial blood pressure  regulation of respiratory gaseous exchange by neurological system process  DNA binding  chromatin binding  sequence-specific DNA binding transcription factor activity  transcription corepressor activity  mRNA binding  protein binding  extracellular space  nucleus  cytosol  inositol metabolic process  mitochondrial electron transport, ubiquinol to cytochrome c  chromatin silencing  regulation of gene expression by genetic imprinting  transcription, DNA-templated  glutamine metabolic process  synapse assembly  respiratory gaseous exchange  long-term memory  protein localization  transcription factor binding  glucocorticoid metabolic process  positive regulation of cell proliferation  methyl-CpG binding  adult locomotory behavior  visual learning  pathogenesis  embryo development  post-embryonic development  double-stranded methylated DNA binding  dendrite development  histone methylation  histone acetylation  proprioception  sensory perception of pain  protein domain specific binding  cerebellum development  ventricular system development  negative regulation of histone methylation  cardiolipin metabolic process  negative regulation of histone acetylation  social behavior  siRNA binding  neuron maturation  negative regulation of neuron apoptotic process  poly(A) RNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  phosphatidylcholine metabolic process  protein N-terminus binding  catecholamine secretion  positive regulation of synapse assembly  regulation of excitatory postsynaptic membrane potential  long-term synaptic potentiation  
Protein Interaction DatabaseMECP2
Wikipedia pathwaysMECP2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MECP2
SNP (GeneSNP Utah)MECP2
SNP : HGBaseMECP2
Genetic variants : HAPMAPMECP2
1000_GenomesMECP2 
ICGC programENSG00000169057 
CONAN: Copy Number AnalysisMECP2 
Somatic Mutations in Cancer : COSMICMECP2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
DECIPHER (Syndromes)X:153295686-153363188
Mutations and Diseases : HGMDMECP2
OMIM105830    300005    300055    300260    300496    300673    312750   
MedgenMECP2
GENETestsMECP2
Disease Genetic AssociationMECP2
Huge Navigator MECP2 [HugePedia]  MECP2 [HugeCancerGEM]
Genomic VariantsMECP2  MECP2 [DGVbeta]
Exome VariantMECP2
dbVarMECP2
ClinVarMECP2
snp3D : Map Gene to Disease4204
General knowledge
Homologs : HomoloGeneMECP2
Homology/Alignments : Family Browser (UCSC)MECP2
Phylogenetic Trees/Animal Genes : TreeFamMECP2
Chemical/Protein Interactions : CTD4204
Chemical/Pharm GKB GenePA30729
Clinical trialMECP2
Cancer Resource (Charite)ENSG00000169057
Other databases
Probes
Litterature
PubMed422 Pubmed reference(s) in Entrez
CoreMineMECP2
GoPubMedMECP2
iHOPMECP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:40:06 CET 2014

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