MECP2 and associated Rett syndrome (WP3584)

MECP2 (methyl-CpG binding protein 2) is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. MECP2 plays an important role in neuronal differentiation, maturation, morphology and function and influences synaptic plasticity. Mutations impairing the proper function of MECP2 are mainly associated with the Rett syndrome but may also contribute to other neurological disorders like schizophrenia, FASD (fetal alcohol syndrome), PPM-X-syndrome, autism, Prader-Will-syndrome, and Angelman-syndrome. Dependant on the cofactors MECP2 acts as an activator or repressor of transcription and micro RNA production. It affects RNA splicing and regulates chromatin structure together with HP1 and interferes in methylation of DNA (epigenetics). The expression of MECP2 itself is highly regulated by promotor elements, cis-regulatory elements, polyadenylation, promotor DNA methylation and miRNA. Please cite this pathways as: http://www.wikipathways.org/instance/WP3584 Ehrhart et al. 2016 http://dx.doi.org/10.1186/s13023-016-0545-5 - the pathway version in the paper is 90609. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP3584 CPTAC Assay Portal]
last edited

Authors

Fehrhart, Egonw, Khanspers, Ryanmiller, Mkutmon, AlexanderPico, MaintBot, L Dupuis, and Eweitz

Cited In

Organism

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Disease Ontology: Rett syndrome

Pathway Ontology: disease pathway

Participants

Label Type Compact Identifier
Dopamine Metabolite hmdb:HMDB0000073
NCOR1 GeneProduct ensembl:ENSG00000141027
hsa-miR-222-3p Rna mirbase.mature:MIMAT0000279
MYT1 GeneProduct ensembl:ENSG00000196132
BRN3 GeneProduct ensembl:ENSG00000152192
hsa-miR-184 Rna mirbase.mature:MIMAT0000454
hsa-miR-29b-1-5p Rna mirbase.mature:MIMAT0004514
hsa-miR-193a-5p Rna mirbase.mature:MIMAT0004614
DLX5 GeneProduct ensembl:ENSG00000105880
MTOR GeneProduct ensembl:ENSG00000198793
APOC2 GeneProduct ensembl:ENSG00000234906
GABA Metabolite chebi:16865
hsa-miR-137 Rna mirbase.mature:MIMAT0000429
hsa-miR-329-5p Rna mirbase.mature:MIMAT0026555
HDAC1 GeneProduct ensembl:ENSG00000116478
BDNF GeneProduct ensembl:ENSG00000176697
SST GeneProduct ensembl:ENSG00000157005
HB1 GeneProduct None
NREP GeneProduct ensembl:ENSG00000134986
TET3 GeneProduct ensembl:ENSG00000187605
PI3K/MAPK Pathway wikipathways:WP382
hsa-miR-199a-5p Rna mirbase.mature:MIMAT0000231
Glycine Metabolite hmdb:HMDB0000123
MECP2 GeneProduct ensembl:ENSG00000169057
BRN2 GeneProduct ensembl:ENSG00000184486
DLX6 GeneProduct ensembl:ENSG00000006377
hsa-miR-130a Rna mirbase.mature:MIMAT0000425
HP1 GeneProduct None
SMC3 GeneProduct ensembl:ENSG00000108055
hsa-miR-199a-3p Rna mirbase.mature:MIMAT0000232
hsa-miR-130b-3p Rna mirbase.mature:MIMAT0000691
hsa-miR-146b-3p Rna miRBase mature sequence
Norepinephrine Metabolite HMDB
hsa-miR-483-5p Rna miRBase mature sequence
MEF2C GeneProduct Ensembl
TAP1 GeneProduct Ensembl
Norepinephrine Metabolite HMDB
UBE3A GeneProduct Ensembl
NMDA Metabolite HMDB
RBFOX1 GeneProduct Ensembl
CNP GeneProduct Ensembl
Glutamate Metabolite chebi:29987
TET2 GeneProduct ensembl:ENSG00000168769
SGK1 GeneProduct ensembl:ENSG00000118515
Serotonin Metabolite hmdb:HMDB0000259
FKBP5 GeneProduct ensembl:ENSG00000096060
RPS6 GeneProduct ensembl:ENSG00000137154
hsa-miR-132-5p Rna mirbase.mature:MIMAT0004594
Ak087060 GeneProduct None
EZH2 GeneProduct ensembl:ENSG00000106462
GAMT GeneProduct ensembl:ENSG00000130005
hsa-miR-197-3p Rna mirbase.mature:MIMAT0000227
hsa-miR-199b-5p Rna mirbase.mature:MIMAT0000263
AKT1 GeneProduct ensembl:ENSG00000142208
H3 GeneProduct None
MPP1 GeneProduct ensembl:ENSG00000130830
OPRK1 GeneProduct ensembl:ENSG00000082556
Trofinetide Metabolite pubchem.compound:11318905
hsa-miR-296-5p Rna mirbase.mature:MIMAT0000690
ARHGEF26 GeneProduct ensembl:ENSG00000114790
SIN3A GeneProduct ensembl:ENSG00000169375
IGF2 GeneProduct ensembl:ENSG00000167244
Ak081227 GeneProduct None
Dopamine Metabolite hmdb:HMDB0000073
SP1 GeneProduct ensembl:ENSG00000185591
GAD1 GeneProduct ensembl:ENSG00000128683
TAF1 GeneProduct ensembl:ENSG00000147133
HNRNPH1 GeneProduct ensembl:ENSG00000169045
hsa-miR-342-3p Rna mirbase.mature:MIMAT0000753
CSRP1 GeneProduct ensembl:ENSG00000159176
hsa-miR-382-3p Rna mirbase.mature:MIMAT0022697
hsa-miR-221-5p Rna mirbase.mature:MIMAT0004568
hsa-miR-30a-3p Rna mirbase.mature:MIMAT0000088
GRID1 GeneProduct ensembl:ENSG00000182771
hsa-miR-409-3p Rna mirbase.mature:MIMAT0001639
CDON GeneProduct ensembl:ENSG00000064309
MYT1 GeneProduct ensembl:ENSG00000196132
C/EBP GeneProduct ensembl:ENSG00000221869
hsa-miR-146a-5p Rna mirbase.mature:MIMAT0000449
CAMK2A GeneProduct ensembl:ENSG00000070808
MBP GeneProduct ensembl:ENSG00000197971
hsa-miR-221-3p Rna mirbase.mature:MIMAT0000278
Melatonin Metabolite hmdb:HMDB0001389
BCL6 GeneProduct ensembl:ENSG00000113916
GABRR2 GeneProduct ensembl:ENSG00000111886
CTCF GeneProduct ensembl:ENSG00000102974
SP3 GeneProduct ensembl:ENSG00000172845
hsa-miR-187-5p Rna mirbase.mature:MIMAT0004561
hsa-miR-152-3p Rna mirbase.mature:MIMAT0000438
PRPF3 GeneProduct ensembl:ENSG00000134748
E2F1 GeneProduct ensembl:ENSG00000101412
AMPA GeneProduct ensembl:ENSG00000155511
REST GeneProduct ensembl:ENSG00000084093
MAG GeneProduct ensembl:ENSG00000105695
GPRIN1 GeneProduct ensembl:ENSG00000169258
Serotonin Metabolite hmdb:HMDB0000259
TET1 GeneProduct ensembl:ENSG00000138336
IGF1R GeneProduct ensembl:ENSG00000140443
hsa-miR-92a-3p Rna mirbase.mature:MIMAT0000092
HNRNPF GeneProduct ensembl:ENSG00000169813
hsa-miR-122-5p Rna mirbase.mature:MIMAT0000421
Myoinositol Metabolite hmdb:HMDB0000211
Cytosine methylation Pathway wikipathways:WP3585
YB1 GeneProduct ensembl:ENSG00000065978
MECP2 GeneProduct ensembl:ENSG00000169057
MECP2 GeneProduct ensembl:ENSG00000169057
SP1 GeneProduct ensembl:ENSG00000185591
Glutamate Metabolite chebi:29987
GABA Metabolite chebi:16865
CREB1 GeneProduct ensembl:ENSG00000118260
RPS6 GeneProduct ensembl:ENSG00000137154
BDNF GeneProduct ensembl:ENSG00000176697
GAMT GeneProduct ensembl:ENSG00000130005
Glutamate Metabolite chebi:29987
GABA Metabolite chebi:16865
MECP2 GeneProduct ensembl:ENSG00000169057
D-serine Metabolite chebi:16523
IGF1 GeneProduct ensembl:ENSG00000017427
FOXG1 GeneProduct ensembl:ENSG00000176165
PI3K GeneProduct None
PTEN GeneProduct ensembl:ENSG00000171862
DHX9 GeneProduct ensembl:ENSG00000135829
FUS GeneProduct ensembl:ENSG00000089280
HNRNPF GeneProduct ensembl:ENSG00000169813
TARDBP GeneProduct ensembl:ENSG00000120948
PSIP1 GeneProduct ensembl:ENSG00000164985
FUT8 GeneProduct ensembl:ENSG00000033170
FGF2 GeneProduct ensembl:ENSG00000138685
GRIN1 GeneProduct ensembl:ENSG00000176884
FGF3 GeneProduct ensembl:ENSG00000186895
FGF4 GeneProduct ensembl:ENSG00000075388
FGF5 GeneProduct ensembl:ENSG00000138675
NF1 GeneProduct ensembl:ENSG00000196712
DLX5 GeneProduct ensembl:ENSG00000105880
GRIA1 GeneProduct ensembl:ENSG00000155511
GRIA3 GeneProduct ensembl:ENSG00000125675
GRIA4 GeneProduct ensembl:ENSG00000152578

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