Synaptic signaling pathways associated with autism spectrum disorder (Homo sapiens)

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Synaptic signaling pathways associated with autism spectrum disorder (ASD).

Changes in mTOR activation is believed to be a risk factor for ASD. mTOR is regulated by the TCS1/2 complex, and several signaling pathways upstream of TSC1/2 positively or negatively regulate this complex, including PI3K–AKT, Ras–ERK, LKB1–AMPK and Wnt–GSK3β pathways.

Adapted from figure 1 from Daghsni et al.

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Ontology Terms



  1. Daghsni M, Rima M, Fajloun Z, Ronjat M, Brusés JL, M'rad R, De Waard M; ''Autism throughout genetics: Perusal of the implication of ion channels.''; Brain Behav, 2018 PubMed Europe PMC Scholia


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103371view13:39, 24 February 2019EgonwReplaced secondary ChEBI IDs with primary IDs.
103370view13:38, 24 February 2019Egonws/ca 2+/Ca 2+/
103366view01:05, 24 February 2019Khansperschanged to cell
103364view01:01, 24 February 2019KhanspersModified description
103363view01:00, 24 February 2019KhanspersModified description
103362view19:13, 23 February 2019KhanspersModified description
103361view19:08, 23 February 2019KhanspersOntology Term : 'mTOR signaling pathway' added !
103360view19:06, 23 February 2019Khanspersadded synapse
103359view19:03, 23 February 2019KhanspersOntology Term : 'autism spectrum disorder' added !
103358view19:02, 23 February 2019Khanspersupdated complexes and layout
103307view22:54, 21 February 2019KhanspersNew pathway

External references


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NameTypeDatabase referenceComment
AKT1GeneProduct207 (Entrez Gene) Akt
AKT2GeneProduct208 (Entrez Gene) Akt
AKT3GeneProduct10000 (Entrez Gene) Akt
ARCGeneProduct23237 (Entrez Gene) ARC
BDNFGeneProduct627 (Entrez Gene) BDNF
CACNA1CGeneProduct775 (Entrez Gene) CACNA1C
CAMK2BGeneProduct816 (Entrez Gene) CaMKII
CAMK4GeneProductENSG00000152495 (Ensembl) CaMKII
Ca 2+MetaboliteCHEBI:29108 (ChEBI)
DLG4GeneProduct1742 (Entrez Gene) PSD95
EIF4EBP1GeneProductENSG00000187840 (Ensembl)
GDPMetaboliteCHEBI:17552 (ChEBI)
GRIN1GeneProduct2902 (Entrez Gene) NMDAR
GRIN2AGeneProduct2903 (Entrez Gene) NMDAR
GRIN2BGeneProduct2904 (Entrez Gene) NMDAR
GRIN2CGeneProduct2905 (Entrez Gene) NMDAR
GRIN2DGeneProduct2906 (Entrez Gene) NMDAR
GRIN3AGeneProduct116443 (Entrez Gene) NMDAR
GRIN3BGeneProduct116444 (Entrez Gene) NMDAR
GRM1GeneProduct2911 (Entrez Gene) mGluR1
GSK3BGeneProductENSG00000082701 (Ensembl)
GTPMetaboliteCHEBI:15996 (ChEBI)
HOMER1GeneProduct9456 (Entrez Gene) HOMER1
HRASGeneProduct3265 (Entrez Gene) Ras
KRASGeneProduct3845 (Entrez Gene) Ras
MAPK1GeneProduct5594 (Entrez Gene) ErK
MAPK3GeneProduct5595 (Entrez Gene) ErK
MTORGeneProduct2475 (Entrez Gene) mTOR
NF1GeneProduct4763 (Entrez Gene) NF1
NRASGeneProduct4893 (Entrez Gene) Ras
NTRK2GeneProduct4915 (Entrez Gene) TRKB
PIK3CAGeneProduct5290 (Entrez Gene) PI3K
PIK3CBGeneProduct5291 (Entrez Gene) PI3K
PIK3CDGeneProduct5293 (Entrez Gene) PI3K
PIK3R1GeneProductENSG00000145675 (Ensembl) PI3K
PIK3R2GeneProductENSG00000105647 (Ensembl) PI3K
PIK3R3GeneProduct8503 (Entrez Gene) PI3K
PRKAA1GeneProduct5562 (Entrez Gene) AMPK
PRKAA2GeneProduct5563 (Entrez Gene) AMPK
PRKAB1GeneProduct5564 (Entrez Gene) AMPK
PRKAB2GeneProduct5565 (Entrez Gene) AMPK
PRKAG1GeneProduct5571 (Entrez Gene) AMPK
PRKAG2GeneProduct51422 (Entrez Gene) AMPK
PRKAG3GeneProduct53632 (Entrez Gene) AMPK
PTENGeneProduct5728 (Entrez Gene) PTEN
RHEBGeneProduct6009 (Entrez Gene) Rheb
RPS6KB1GeneProduct6198 (Entrez Gene) S6K1
RPTORGeneProduct57521 (Entrez Gene) Raptor
SHANK3GeneProductENSG00000251322 (Ensembl) HOMER1
SYNGAP1GeneProduct8831 (Entrez Gene) SYNGAP1
TSC1GeneProduct7248 (Entrez Gene) TSC1/
TSC2GeneProduct7249 (Entrez Gene) TSC2
UBE3AGeneProduct7337 (Entrez Gene) UBE3A
rapamycinMetaboliteCHEBI:9168 (ChEBI)

Annotated Interactions

No annotated interactions

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