Gene table of MECP2 : methyl-CpG binding protein 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with MECP2OMIM linkNumber of associated genesgenes
300673ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONSOMIM link to OMIM 1MECP2
105830ANGELMAN SYNDROMEClinVar link to OMIM 3UBE3A, CDKL5, MECP2
PS309510MENTAL RETARDATION, X-LINKED SYNDROMICClinVar, OMIM, HUMSAVAR link to OMIM 27AP1S2, PRPS1, IGBP1, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, PHF8, CLIC2, CASK, TAF1, FGD1, CUL4B, PQBP1, ZDHHC9, NONO, UPF3B, SMS, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6
312750RETT SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1MECP2
PS209850AUTISM, SUSCEPTIBLITY TOClinVar, OMIM link to OMIM 13CNTNAP2, PTCHD1, NLGN3, EN2, MET, MECP2, SHANK2, TMLHE, SLC9A9, CHD8, NLGN4X, EIF4E, RPL10
143465ATTENTION DEFICIT-HYPERACTIVITY DISORDERClinVar link to OMIM 3DRD4, MECP2, DRD5

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Annotation of the gene MECP2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
enzyme bindingGO:00198992.27
chromatin DNA bindingGO:00314905.37
unmethylated CpG bindingGO:00453227.95
macromolecular complex bindingGO:00448772.61
nucleic acid binding transcription factor activityGO:00010712.65
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
sequence-specific DNA bindingGO:00435652.79
structure-specific DNA bindingGO:00435664.98
mRNA bindingGO:00037294.68
transcription corepressor activityGO:00037144.33
transcription cofactor activityGO:00037123.44
nucleotide bindingGO:00001661.96
transcription factor activity, transcription factor bindingGO:00009893.36
transcription factor activity, protein bindingGO:00009883.35
double-stranded DNA bindingGO:00036903.09
histone deacetylase bindingGO:00428265.08
transcription factor bindingGO:00081343.46
methyl-CpG bindingGO:00083276.69
poly(A) RNA bindingGO:00448222.69
DNA secondary structure bindingGO:00002176.6
small molecule bindingGO:00360941.89
double-stranded methylated DNA bindingGO:00103858.64
protein domain specific bindingGO:00199043.32
four-way junction DNA bindingGO:00004007.03
protein N-terminus bindingGO:00474855.11
transcription factor activity, sequence-specific DNA bindingGO:00037002.65
organic cyclic compound bindingGO:00971591.05
siRNA bindingGO:00351977.66
RNA bindingGO:00037232.36
protein bindingGO:00055150.46
chromatin bindingGO:00036823.64
bindingGO:00054880.18