| Nomenclature |
|---|
| HGNC (Hugo) | MECP2 6990 |
| Cards |
|---|
| Entrez_Gene (NCBI) | MECP2 4204 methyl CpG binding protein 2 |
| GeneCards (Weizmann) | MECP2 |
| Ensembl hg19 (Hinxton) | ENSG00000169057 [Gene_View] chrX:153295686-153363188 [Contig_View] MECP2 [Vega] |
| Ensembl hg38 (Hinxton) | ENSG00000169057 [Gene_View] chrX:153295686-153363188 [Contig_View] MECP2 [Vega] |
| ICGC DataPortal | ENSG00000169057 |
| cBioPortal | MECP2 |
| AceView (NCBI) | MECP2 |
| Genatlas (Paris) | MECP2 |
| WikiGenes | 4204 |
| SOURCE (Princeton) | MECP2 |
| Genomic and cartography |
|---|
| GoldenPath hg19 (UCSC) | MECP2 - chrX:153295686-153363188 - Xq28 [Description] (hg19-Feb_2009) |
| GoldenPath hg38 (UCSC) | MECP2 - Xq28 [Description] (hg38-Dec_2013) |
| Ensembl | MECP2 - Xq28 [CytoView hg19] MECP2 - Xq28 [CytoView hg38] |
| Mapping of homologs : NCBI | MECP2 [Mapview hg19] MECP2 [Mapview hg38] |
| OMIM | 105830 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 : Unigene | Hs.702514 [ NCBI ] |
| CGAP (NCI) | Hs.702514 |
| Alternative Splicing : Fast-db (Paris) | GSHG0032426 |
| Alternative Splicing Gallery | ENSG00000169057 |
| Gene Expression | MECP2 [ NCBI-GEO ] MECP2 [ SEEK ] MECP2 [ MEM ] |
| SOURCE (Princeton) | Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P51608 (Uniprot) |
| NextProt | P51608 [Medical] |
| With graphics : InterPro | P51608 |
| Splice isoforms : SwissVar | P51608 (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 : CluSTr | P51608 |
| Domain families : Pfam (Sanger) | MBD (PF01429) |
| Domain families : Pfam (NCBI) | pfam01429 |
| Domain families : Smart (EMBL) | AT_hook (SM00384) MBD (SM00391) |
| DMDM Disease mutations | 4204 |
| Blocks (Seattle) | P51608 |
| PDB (SRS) | 1QK9 3C2I |
| PDB (PDBSum) | 1QK9 3C2I |
| PDB (IMB) | 1QK9 3C2I |
| PDB (RSDB) | 1QK9 3C2I |
| Human Protein Atlas | ENSG00000169057 |
| Peptide Atlas | P51608 |
| HPRD | 02050 |
| IPI | IPI00418234 IPI00964558 IPI00645192 IPI01010228 IPI00852714 IPI01021519 IPI00816549 IPI00878746 IPI00893388 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P51608 |
| IntAct (EBI) | P51608 |
| FunCoup | ENSG00000169057 |
| BioGRID | MECP2 |
| IntegromeDB | MECP2 |
| STRING (EMBL) | MECP2 |
| Ontologies - Pathways |
|---|
| QuickGO | P51608 |
| Ontology : AmiGO | negative 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-EBI | negative 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 Database | MECP2 |
| DoCM (Curated mutations) | MECP2 |
| Wikipedia pathways | MECP2 |
| Gene fusion - rearrangements |
|---|
| Polymorphisms : SNP, variants |
|---|
| NCBI Variation Viewer | MECP2 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | MECP2 |
| dbVar | MECP2 |
| ClinVar | MECP2 |
| 1000_Genomes | MECP2 |
| Exome Variant Server | MECP2 |
| SNP (GeneSNP Utah) | MECP2 |
| SNP : HGBase | MECP2 |
| Genetic variants : HAPMAP | MECP2 |
| Genomic Variants | MECP2 MECP2 [DGVbeta] |
| Mutations |
|---|
| ICGC Data Portal | ENSG00000169057 |
| Somatic Mutations in Cancer : COSMIC | MECP2 |
| CONAN: Copy Number Analysis | MECP2 |
| 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 |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] |
| Diseases |
|---|
| DECIPHER (Syndromes) | X:153295686-153363188 |
| Mutations and Diseases : HGMD | MECP2 |
| OMIM | 105830 300005 300055 300260 300496 300673 312750 |
| Medgen | MECP2 |
| NextProt | P51608 [Medical] |
| GENETests | MECP2 |
| Disease Genetic Association | MECP2 |
| Huge Navigator |
MECP2 [HugePedia] MECP2 [HugeCancerGEM] |
| snp3D : Map Gene to Disease | 4204 |
| DGIdb (Drug Gene Interaction db) | MECP2 |
| General knowledge |
|---|
| Homologs : HomoloGene | MECP2 |
| Homology/Alignments : Family Browser (UCSC) | MECP2 |
| Phylogenetic Trees/Animal Genes : TreeFam | MECP2 |
| Chemical/Protein Interactions : CTD | 4204 |
| Chemical/Pharm GKB Gene | PA30729 |
| Clinical trial | MECP2 |
| Cancer Resource (Charite) | ENSG00000169057 |
| Other databases |
|---|
| Probes |
|---|
| Litterature |
|---|
| PubMed | 422 Pubmed reference(s) in Entrez |
| CoreMine | MECP2 |
| GoPubMed | MECP2 |
| iHOP | MECP2 |
