Disruption of postsynaptic signaling by CNV (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none nucleuscytoskeletonSchizophrenia (de novo)presynaptic membraneERKbinds to for transportARC complexDLG2DLGAP1DLG1ARCARC - NMDAR complexSHANKGRM1STX1AGRIN1GRIN2AGRIN2BGRIN2CGRIN2DHOMER1DLG1DLG2DLGAP1CAMK2BCAMK2GCAMK2ACAMK2DRYR2RPH3ACa2+TJP1SYNGAP1YWHAGDLG1DLG2ARCNMDAR complexCa2+GRIN2DGRIN2AGRIN2BGRIN2CGRIN1CAMK2BCAMK2GCAMK2ACAMK2DMAPK3MAPK1FMR1CYFIP1CAMK2ACAMK2BCAMK2GCAMK2DNLGN2NLGN1NLGN3NLGN4XNRXN2NRXN1NRXN3postsynaptic terminalsynaptic cleftSchizophrenia (other studies)AutismARCARCCAMK2GCAMK2BCAMK2ACAMK2DName: Disruption of postsynaptic signaling by CNVOrganism: Homo sapiens


Description

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

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Quality Tags

Image:Curated.pngApproved version

Ontology Terms

Pathway Ontology : disease pathway
 

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

View all...
CompareRevisionActionTimeUserComment
116427
Approved
view09:12, 7 May 2021EweitzModified description
116425view09:11, 7 May 2021EweitzModified title
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...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
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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