Identity
HGNC
LOCATION
2p16.3
LOCUSID
ALIAS
Hs.22998,PTHSL2,SCZD17
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9378
MIM: 600565
HGNC: 8008
Ensembl: ENSG00000179915
Variants:
dbSNP: 9378
ClinVar: 9378
TCGA: ENSG00000179915
COSMIC: NRXN1
RNA/Proteins
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10066 | duloxetine | Chemical | ClinicalAnnotation | associated | PD | 29407288 | |
| PA445876 | Tobacco Use Disorder | Disease | VariantAnnotation | associated | 27355804 | ||
| PA447216 | Schizophrenia | Disease | ClinicalAnnotation | associated | PD | ||
| PA447321 | Depressive Disorder, Major | Disease | ClinicalAnnotation | associated | PD | 29407288 | |
| PA452233 | antipsychotics | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37355690 | 2023 | Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids. | 6 |
| 37355690 | 2023 | Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids. | 6 |
| 34529206 | 2022 | The influence of NRXN1 on systemizing and the brain structure in healthy adults. | 0 |
| 34687402 | 2022 | Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder. | 1 |
| 35101781 | 2022 | Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings. | 1 |
| 35627176 | 2022 | Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure. | 3 |
| 34529206 | 2022 | The influence of NRXN1 on systemizing and the brain structure in healthy adults. | 0 |
| 34687402 | 2022 | Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder. | 1 |
| 35101781 | 2022 | Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings. | 1 |
| 35627176 | 2022 | Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure. | 3 |
| 33476483 | 2021 | An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. | 4 |
| 33756113 | 2021 | Copy number variants in neurexin genes: phenotypes and mechanisms. | 10 |
| 34035170 | 2021 | Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons. | 35 |
| 34168285 | 2021 | Neurexin 1 variants as risk factors for suicide death. | 4 |
| 34403115 | 2021 | RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma. | 7 |
Citation
Dessen P
NRXN1 (neurexin 1)
Atlas Genet Cytogenet Oncol Haematol. 2010-03-01
Online version: http://atlasgeneticsoncology.org/gene/52805/nrxn1-(neurexin-1)
