NRXN1 (neurexin 1)

2010-03-01  

Identity

HGNC
LOCATION
2p16.3
LOCUSID
ALIAS
Hs.22998,PTHSL2,SCZD17
FUSION GENES

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

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
171581882007Novel genes identified in a high-density genome wide association study for nicotine dependence.312
181799002008Disruption of neurexin 1 associated with autism spectrum disorder.235
191973632009A genome-wide investigation of SNPs and CNVs in schizophrenia.197
195571952009Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.175
189457202009Disruption of the neurexin 1 gene is associated with schizophrenia.172
189457202009Disruption of the neurexin 1 gene is associated with schizophrenia.172
179890662008Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.153
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
198961122009CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.124
189403112008Recurrent CNVs disrupt three candidate genes in schizophrenia patients.107

Citation

Dessen P

NRXN1 (neurexin 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/52805/nrxn1-(neurexin-1)