Disruption of postsynaptic signalling by CNV (Homo sapiens)

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1ERKnucleusARC complexcytoskeletonARC - NMDAR complexbinds to for transportpresynaptic membraneSchizophrenia (de novo)TJP1GRIN2DNRXN1GRIN2ANLGN1NRXN2CAMK2ACAMK2BGRIN2BCAMK2GSTX1ACAMK2DMAPK3DLG2CYFIP1NLGN2DLG1HOMER1SHANKRPH3AGRIN1NLGN3Ca2+YWHAGGRIN2CGRM1NRXN3FMR1SYNGAP1RYR2DLGAP1MAPK1NLGN4XARCpostsynaptic terminalsynaptic cleftDLG1DLG2ARCDLG1DLG2DLGAP1NMDAR complexCa2+Schizophrenia (other studies)AutismARCARCCAMK2GCAMK2BCAMK2ACAMK2DCAMK2BCAMK2GCAMK2ACAMK2DGRIN2DGRIN2AGRIN2BGRIN2CGRIN1CAMK2BCAMK2GCAMK2ACAMK2D


Description

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

Quality Tags

Ontology Terms

 

Bibliography

  1. Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O'Donovan MC, Owen MJ; ''De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.''; Mol Psychiatry, 2012 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
110312view21:29, 3 May 2020Marvin M2Connected line (ARC to MAPK1-MAPK3)
110307view06:48, 3 May 2020EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
109772view12:52, 31 March 2020FehrhartOntology Term : 'autism spectrum disorder' added !
109771view12:52, 31 March 2020FehrhartOntology Term : 'schizophrenia' added !
109770view12:52, 31 March 2020FehrhartOntology Term : 'signaling pathway' added !
109769view12:52, 31 March 2020FehrhartOntology Term : 'neuron' added !
109768view12:47, 31 March 2020FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ARCGeneProductENSG00000198576 (Ensembl)
CAMK2AGeneProductENSG00000070808 (Ensembl)
CAMK2BGeneProductENSG00000058404 (Ensembl)
CAMK2DGeneProductENSG00000145349 (Ensembl)
CAMK2GGeneProductENSG00000148660 (Ensembl)
CYFIP1GeneProductENSG00000273749 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
DLG1GeneProductENSG00000075711 (Ensembl)
DLG2GeneProductENSG00000150672 (Ensembl)
DLGAP1GeneProductENSG00000170579 (Ensembl)
FMR1GeneProductENSG00000102081 (Ensembl)
GRIN1GeneProductENSG00000176884 (Ensembl)
GRIN2AGeneProductENSG00000183454 (Ensembl)
GRIN2BGeneProductENSG00000273079 (Ensembl)
GRIN2CGeneProductENSG00000161509 (Ensembl)
GRIN2DGeneProductENSG00000105464 (Ensembl)
GRM1GeneProductENSG00000152822 (Ensembl)
HOMER1GeneProductENSG00000152413 (Ensembl)
MAPK1GeneProduct5594 (Entrez Gene)
MAPK3GeneProduct5595 (Entrez Gene)
NLGN1GeneProductENSG00000169760 (Ensembl)
NLGN2GeneProductENSG00000169992 (Ensembl)
NLGN3GeneProductENSG00000196338 (Ensembl)
NLGN4XGeneProduct57502 (Entrez Gene)
NRXN1GeneProduct9378 (Entrez Gene)
NRXN2GeneProduct9379 (Entrez Gene)
NRXN3GeneProduct9369 (Entrez Gene)
RPH3AGeneProductENSG00000089169 (Ensembl)
RYR2GeneProductENSG00000198626 (Ensembl)
SHANKGeneProductENSG00000161681 (Ensembl)
STX1AGeneProductENSG00000106089 (Ensembl)
SYNGAP1GeneProductENSG00000197283 (Ensembl)
TJP1GeneProductENSG00000104067 (Ensembl)
YWHAGGeneProductENSG00000170027 (Ensembl)

Annotated Interactions

No annotated interactions

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