NRXN1


Summary: This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:600565
PHARMGKB IDPA31786
Map Location2p16.3

GO terms in NRXN1


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IDA GO:0005730 nucleolus
CC ISS GO:0005783 endoplasmic reticulum
CC IC GO:0005886 plasma membrane
CC IDA GO:0005886 plasma membrane
CC ISS GO:0005886 plasma membrane
CC TAS GO:0005886 plasma membrane
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Gene expression in normal tissue: NRXN1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NRXN1


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Database
Pathway ID
Pathway Des.
kegg hsa04514 Cell adhesion molecules (CAMs) - Homo sapiens (human)
reactome R-HSA-112316 Neuronal System
reactome R-HSA-112316 Neuronal System
reactome R-HSA-1474244 Extracellular matrix organization
reactome R-HSA-3000171 Non-integrin membrane-ECM interactions
reactome R-HSA-6794361 Neurexins and neuroligins
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD309 17AAG 1
iGMDRD353 PD0325901 1
iGMDRD68 Paclitaxel 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NRXN1

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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