NRXN1 (neurexin 1)

2010-03-01  

Identity

HGNC
NRXN1
LOCATION
2p16.3
LOCUSID
9378
ALIAS
Hs.22998,PTHSL2,SCZD17
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9378
MIM: 600565
HGNC: 8008
Ensembl: ENSG00000179915

Variants:

dbSNP: 9378
ClinVar: 9378
TCGA: ENSG00000179915
COSMIC: NRXN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179915ENST00000331040A0A0U1RRK7
ENSG00000179915ENST00000342183P58400
ENSG00000179915ENST00000378262H7BYC7
ENSG00000179915ENST00000401669E7ERL8
ENSG00000179915ENST00000401710P58400
ENSG00000179915ENST00000402717F5GYC7
ENSG00000179915ENST00000404971Q9ULB1
ENSG00000179915ENST00000405472A0A0R4J2G7
ENSG00000179915ENST00000405581E7EQN4
ENSG00000179915ENST00000406316Q9ULB1
ENSG00000179915ENST00000406859F8WB18
ENSG00000179915ENST00000412315H0Y568
ENSG00000179915ENST00000495871A0A0D9SF07
ENSG00000179915ENST00000496792A0A0D9SG60
ENSG00000179915ENST00000611589Q08AH0
ENSG00000179915ENST00000625320A0A0D9SF36
ENSG00000179915ENST00000625672Q9ULB1
ENSG00000179915ENST00000625891A0A0U1RQP8
ENSG00000179915ENST00000626249A0A0D9SEJ1
ENSG00000179915ENST00000626899A0A0D9SEQ7
ENSG00000179915ENST00000627198A0A0D9SG96
ENSG00000179915ENST00000628364A0A0D9SEM5
ENSG00000179915ENST00000628515A0A0D9SFF4
ENSG00000179915ENST00000630543A0A1D5RMU6
ENSG00000179915ENST00000630656A0A0D9SFY6
ENSG00000179915ENST00000635519A0A0U1RR00
ENSG00000179915ENST00000636066A0A1B0GU94
ENSG00000179915ENST00000636345A0A1B0GTL0
ENSG00000179915ENST00000637511A0A1B0GVF4
ENSG00000179915ENST00000637906A0A1B0GUQ1
ENSG00000179915ENST00000638037A0A1B0GUR2

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Cell adhesion molecules (CAMs)KEGGhsa04514
Neuronal SystemREACTOMER-HSA-112316
Extracellular matrix organizationREACTOMER-HSA-1474244
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10066duloxetineChemicalClinicalAnnotationassociatedPD29407288
PA445876Tobacco Use DisorderDiseaseVariantAnnotationassociated27355804
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD29407288
PA452233antipsychoticsChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
373556902023Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids.6
373556902023Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids.6
345292062022The influence of NRXN1 on systemizing and the brain structure in healthy adults.0
346874022022Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder.1
351017812022Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings.1
356271762022Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure.3
345292062022The influence of NRXN1 on systemizing and the brain structure in healthy adults.0
346874022022Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder.1
351017812022Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings.1
356271762022Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure.3
334764832021An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.4
337561132021Copy number variants in neurexin genes: phenotypes and mechanisms.10
340351702021Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons.35
341682852021Neurexin 1 variants as risk factors for suicide death.4
344031152021RNA 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/case-report-explorer/favicon/gene-explorer/