NRXN1 deletion syndrome (WP5398)

Homo sapiens

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Mutations or loss of the NRXN1 gene, located on chromosome 2, is associated with severe brain disorders, autism, schizophrenia, and developmental delay. NRXN1 binds to neurolignins bridging the synaptic cleft. Alternatively spliced NRXN1 and NRXN3 influence the expression of NMDA and AMPA receptors.

Authors

Friederike Ehrhart and Eric Weitz

Activity

last edited

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

disease pathway schizophrenia pathway

Disease Ontology

autism spectrum disorder paranoid schizophrenia

Participants
Query Drugst.One

Label Type Compact URI Comment
GRIN3B GeneProduct ensembl:ENSG00000116032
GRIN2C GeneProduct ensembl:ENSG00000161509
NLGN4X GeneProduct ensembl:ENSG00000146938
GRIN2B GeneProduct ensembl:ENSG00000273079
GRIN1 GeneProduct ensembl:ENSG00000176884
NRXN1 GeneProduct ensembl:ENSG00000179915
NLGN2 GeneProduct ensembl:ENSG00000169992
GRIA4 GeneProduct ensembl:ENSG00000152578
GRIN3A GeneProduct ensembl:ENSG00000198785
DLG4 GeneProduct ensembl:ENSG00000132535 PSD-95
GRIN2A GeneProduct ensembl:ENSG00000183454
GRIA1 GeneProduct ensembl:ENSG00000155511
NLGN1 GeneProduct ensembl:ENSG00000169760
NLGN3 GeneProduct ensembl:ENSG00000196338
GRIA2 GeneProduct ensembl:ENSG00000120251
GRIA3 GeneProduct ensembl:ENSG00000125675
GRIN2D GeneProduct ensembl:ENSG00000105464

References

  1. Structures, alternative splicing, and neurexin binding of multiple neuroligins. Ichtchenko K, Nguyen T, Südhof TC. J Biol Chem. 1996 Feb 2;271(5):2676–82. PubMed Europe PMC Scholia
  2. Binding of neuroligins to PSD-95. Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, et al. Science. 1997 Sep 5;277(5331):1511–5. PubMed Europe PMC Scholia
  3. Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta. Comoletti D, Flynn R, Jennings LL, Chubykin A, Matsumura T, Hasegawa H, et al. J Biol Chem. 2003 Dec 12;278(50):50497–505. PubMed Europe PMC Scholia
  4. miR-196a-2 Promotes Malignant Progression of Thyroid Carcinoma by Targeting NRXN1. Fan Y, Fei M, Li Y, Gao Z, Zhu Y, Dai G, et al. Comput Math Methods Med. 2021 May 31;2021:4856820. PubMed Europe PMC Scholia
  5. Distinct neurexin-cerebellin complexes control AMPA- and NMDA-receptor responses in a circuit-dependent manner. Dai J, Liakath-Ali K, Golf SR, Südhof TC. Elife. 2022 Oct 7;11:e78649. PubMed Europe PMC Scholia