| Alias (NCBI) | AUTSX3 |
| MRX16 |
| MRX79 |
| MRXS13 |
| MRXSL |
| PPMX |
| RS |
| RTS |
| RTT |
| HGNC (Hugo) |
MECP2 |
| HGNC Previous name | RTT |
| MRX16 |
| MRX79 |
| HGNC Previous name | mental retardation, X-linked 16 |
| mental retardation, X-linked 79 |
| Rett syndrome |
| methyl CpG binding protein 2 (Rett syndrome) |
| methyl CpG binding protein 2 |
| LocusID (NCBI) |
4204 |
| Atlas_Id |
41330 |
| Location |
Xq28 [Link to chromosome band Xq28] |
| Location_base_pair |
Starts at 154021813 and ends at 154097731 bp from pter ( according to hg38-Dec_2013) |
| Nomenclature |
|---|
| HGNC (Hugo) | MECP2 6990 |
| LRG (Locus Reference Genomic) | LRG_764 |
| Cards |
|---|
| Entrez_Gene (NCBI) | MECP2 methyl-CpG binding protein 2 |
| Aliases | AUTSX3; MRX16; MRX79; MRXS13; |
| MRXSL; PPMX; RS; RTS; RTT |
| GeneCards (Weizmann) | MECP2 |
| Ensembl hg19 (Hinxton) | ENSG00000169057 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000169057 [Gene_View] ENSG00000169057 [Sequence] chrX:154021813-154097731 [Contig_View] MECP2 [Vega] |
| ICGC DataPortal | ENSG00000169057 |
| TCGA cBioPortal | MECP2 |
| AceView (NCBI) | MECP2 |
| Genatlas (Paris) | MECP2 |
| SOURCE (Princeton) | MECP2 |
| Genetics Home Reference (NIH) | MECP2 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | MECP2 - chrX:154021813-154097731 - Xq28 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | MECP2 - Xq28 [Description] (hg19-Feb_2009) |
| GoldenPath | MECP2 - Xq28 [CytoView hg19] MECP2 - Xq28 [CytoView hg38] |
| ImmunoBase | ENSG00000169057 |
| genome Data Viewer NCBI | MECP2 [Mapview hg19] |
| OMIM | 300005 300055 300260 300496 300673 312750 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AB209464 AF158180 AJ132917 AK289444 AY541280 |
| RefSeq transcript (Entrez) | NM_001110792 NM_001316337 NM_001369391 NM_001369392 NM_001369393 NM_001369394 NM_004992 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | MECP2 |
| Alternative Splicing Gallery | ENSG00000169057 |
| Gene Expression | MECP2 [ NCBI-GEO ] MECP2 [ EBI - ARRAY_EXPRESS ]
MECP2 [ SEEK ] MECP2 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | MECP2 [ Firebrowse - Broad ] |
| Genevisible | Expression of MECP2 in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 4204 |
| GTEX Portal (Tissue expression) | MECP2 |
| Human Protein Atlas | ENSG00000169057-MECP2 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P51608 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P51608 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P51608 |
| Splice isoforms : SwissVar | P51608 |
| PhosPhoSitePlus | P51608 |
| Domaine pattern : Prosite (Expaxy) | MBD (PS50982) |
| Domains : Interpro (EBI) | DNA-bd_dom_sf Me_CpG-bd_MeCP2 Methyl_CpG_DNA-bd |
| Domain families : Pfam (Sanger) | MBD (PF01429) |
| Domain families : Pfam (NCBI) | pfam01429 |
| Domain families : Smart (EMBL) | MBD (SM00391) |
| Conserved Domain (NCBI) | MECP2 |
| Blocks (Seattle) | MECP2 |
| PDB (RSDB) | 1QK9 3C2I 5BT2 6C1Y 6OGJ 6OGK |
| PDB Europe | 1QK9 3C2I 5BT2 6C1Y 6OGJ 6OGK |
| PDB (PDBSum) | 1QK9 3C2I 5BT2 6C1Y 6OGJ 6OGK |
| PDB (IMB) | 1QK9 3C2I 5BT2 6C1Y 6OGJ 6OGK |
| Structural Biology KnowledgeBase | 1QK9 3C2I 5BT2 6C1Y 6OGJ 6OGK |
| SCOP (Structural Classification of Proteins) | 1QK9 3C2I 5BT2 6C1Y 6OGJ 6OGK |
| CATH (Classification of proteins structures) | 1QK9 3C2I 5BT2 6C1Y 6OGJ 6OGK |
| Superfamily | P51608 |
| Human Protein Atlas [tissue] | ENSG00000169057-MECP2 [tissue] |
| 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 |
| BioGRID | MECP2 |
| STRING (EMBL) | MECP2 |
| ZODIAC | MECP2 |
| Ontologies - Pathways |
|---|
| QuickGO | P51608 |
| Ontology : AmiGO | negative regulation of transcription by RNA polymerase II heterochromatin heterochromatin DNA-binding transcription repressor activity, RNA polymerase II-specific 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 transcription corepressor activity RNA binding mRNA binding protein binding extracellular space nucleus nucleus nucleoplasm nucleoplasm mitochondrion centrosome cytosol inositol metabolic process mitochondrial electron transport, ubiquinol to cytochrome c chromatin silencing regulation of gene expression by genetic imprinting transcription initiation from RNA polymerase II promoter glutamine metabolic process cellular biogenic amine metabolic process mitotic spindle organization 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 post-embryonic development double-stranded methylated DNA binding double-stranded methylated DNA binding negative regulation of gene expression positive regulation of G2/M transition of mitotic cell cycle dendrite development negative regulation of angiogenesis histone methylation histone acetylation proprioception sensory perception of pain protein domain specific binding cerebellum development ventricular system development cardiolipin metabolic process social behavior siRNA binding host cell nucleus neuron maturation negative regulation of neuron apoptotic process negative regulation of blood vessel endothelial cell migration negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated phosphatidylcholine metabolic process protein N-terminus binding catecholamine secretion negative regulation of smooth muscle cell differentiation excitatory postsynaptic potential long-term synaptic potentiation positive regulation of microtubule nucleation postsynapse positive regulation of histone H3-K9 trimethylation positive regulation of DNA methylation negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation |
| Ontology : EGO-EBI | negative regulation of transcription by RNA polymerase II heterochromatin heterochromatin DNA-binding transcription repressor activity, RNA polymerase II-specific 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 transcription corepressor activity RNA binding mRNA binding protein binding extracellular space nucleus nucleus nucleoplasm nucleoplasm mitochondrion centrosome cytosol inositol metabolic process mitochondrial electron transport, ubiquinol to cytochrome c chromatin silencing regulation of gene expression by genetic imprinting transcription initiation from RNA polymerase II promoter glutamine metabolic process cellular biogenic amine metabolic process mitotic spindle organization 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 post-embryonic development double-stranded methylated DNA binding double-stranded methylated DNA binding negative regulation of gene expression positive regulation of G2/M transition of mitotic cell cycle dendrite development negative regulation of angiogenesis histone methylation histone acetylation proprioception sensory perception of pain protein domain specific binding cerebellum development ventricular system development cardiolipin metabolic process social behavior siRNA binding host cell nucleus neuron maturation negative regulation of neuron apoptotic process negative regulation of blood vessel endothelial cell migration negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated phosphatidylcholine metabolic process protein N-terminus binding catecholamine secretion negative regulation of smooth muscle cell differentiation excitatory postsynaptic potential long-term synaptic potentiation positive regulation of microtubule nucleation postsynapse positive regulation of histone H3-K9 trimethylation positive regulation of DNA methylation negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation |
| NDEx Network | MECP2 |
| Atlas of Cancer Signalling Network | MECP2 |
| Wikipedia pathways | MECP2 |
| Orthology - Evolution |
|---|
| OrthoDB | 4204 |
| GeneTree (enSembl) | ENSG00000169057 |
| Phylogenetic Trees/Animal Genes : TreeFam | MECP2 |
| HOGENOM | P51608 |
| Homologs : HomoloGene | MECP2 |
| Homology/Alignments : Family Browser (UCSC) | MECP2 |
| Gene fusions - Rearrangements |
|---|
| Fusion Portal | HCFC1 Xq28 MECP2 Xq28 BRCA |
| Fusion Portal | IRAK1 Xq28 MECP2 Xq28 BLCA |
| Fusion : Quiver | MECP2 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | MECP2 [hg38] |
| dbVar | MECP2 |
| ClinVar | MECP2 |
| Monarch | MECP2 |
| 1000_Genomes | MECP2 |
| Exome Variant Server | MECP2 |
| GNOMAD Browser | ENSG00000169057 |
| Varsome Browser | MECP2 |
| Genomic Variants (DGV) | MECP2 [DGVbeta] |
| DECIPHER | MECP2 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | MECP2 |
| Mutations |
|---|
| ICGC Data Portal | MECP2 |
| TCGA Data Portal | MECP2 |
| Broad Tumor Portal | MECP2 |
| OASIS Portal | MECP2 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | MECP2 [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | MECP2 |
| Mutations and Diseases : HGMD | 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 |
| LOVD (Leiden Open Variation Database) | SpainMDB |
| BioMuta | search MECP2 |
| DgiDB (Drug Gene Interaction Database) | MECP2 |
| DoCM (Curated mutations) | MECP2 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | MECP2 (select a term) |
| intoGen | MECP2 |
| Cancer3D | MECP2(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 300005 300055 300260 300496 300673 312750 |
| Orphanet | 91 1190 2764 3256 3164 18656 |
| DisGeNET | MECP2 |
| Medgen | MECP2 |
| Genetic Testing Registry | MECP2
|
| NextProt | P51608 [Medical] |
| GENETests | MECP2 |
| Target Validation | MECP2 |
| Huge Navigator |
MECP2 [HugePedia] |
| ClinGen | MECP2 (curated) |
| Clinical trials, drugs, therapy |
|---|
| MyCancerGenome | MECP2 |
| Protein Interactions : CTD | |
| Pharm GKB Gene | PA30729 |
| Pharos | P51608 |
| Clinical trial | MECP2 |
| Miscellaneous |
|---|
| canSAR (ICR) | MECP2 (select the gene name) |
| Harmonizome | MECP2 |
| DataMed Index | MECP2 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 499 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| EVEX | MECP2 |
