Disruption of postsynaptic signaling by CNV (WP4875)

Homo sapiens

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This pathway describes the disruption of postsynaptic signaling due to missing genes caused by copy number variations (CNVs).

Authors

Friederike Ehrhart , Egon Willighagen , Marvin Martens , and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Cell Type Ontology

neuron

Disease Ontology

schizophrenia autism spectrum disorder

Pathway Ontology

signaling pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
Ca2+ Metabolite chebi:29108
DLG2 GeneProduct ensembl:ENSG00000150672
DLGAP1 GeneProduct ensembl:ENSG00000170579
TJP1 GeneProduct ensembl:ENSG00000104067
SHANK GeneProduct ensembl:ENSG00000161681
GRM1 GeneProduct ensembl:ENSG00000152822
STX1A GeneProduct ensembl:ENSG00000106089
FMR1 GeneProduct ensembl:ENSG00000102081
GRIN1 GeneProduct ensembl:ENSG00000176884
GRIN2A GeneProduct ensembl:ENSG00000183454
GRIN2B GeneProduct ensembl:ENSG00000273079
GRIN2C GeneProduct ensembl:ENSG00000161509
GRIN2D GeneProduct ensembl:ENSG00000105464
NRXN2 GeneProduct ncbigene:9379
NLGN2 GeneProduct ensembl:ENSG00000169992
MAPK3 GeneProduct ncbigene:5595
CAMK2A GeneProduct ensembl:ENSG00000070808
CAMK2B GeneProduct ensembl:ENSG00000058404
CAMK2G GeneProduct ensembl:ENSG00000148660
NRXN1 GeneProduct ncbigene:9378
NLGN1 GeneProduct ensembl:ENSG00000169760
DLG1 GeneProduct ensembl:ENSG00000075711
NRXN3 GeneProduct ncbigene:9369
ARC GeneProduct ensembl:ENSG00000198576
RYR2 GeneProduct ensembl:ENSG00000198626
NLGN3 GeneProduct ensembl:ENSG00000196338
NLGN4X GeneProduct ncbigene:57502
RPH3A GeneProduct ensembl:ENSG00000089169
MAPK1 GeneProduct ncbigene:5594
CYFIP1 GeneProduct ensembl:ENSG00000273749
CAMK2D GeneProduct ensembl:ENSG00000145349
SYNGAP1 GeneProduct ensembl:ENSG00000197283
HOMER1 GeneProduct ensembl:ENSG00000152413
YWHAG GeneProduct ensembl:ENSG00000170027

References

  1. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, et al. Mol Psychiatry. 2012 Feb;17(2):142–53. PubMed Europe PMC Scholia