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Gene : NRXN1 Homo sapiens

Name  ? neurexin 1 Cytological Location  2p16.3
Brief Description  neurexin 1
Description  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]
  • synonyms:
  • HGNC:8008,
  • AB011150,
  • NRXN1,
  • uc061jbg.1,
  • NM_001135659,
  • PTHSL2,
  • Hs.22998,
  • OTTHUMG00000129263,
  • KIAA0578,
  • Hs.22998,
  • SCZD17
  • identifiers:
  • 9378,
  • ENSG00000179915,
  • NRXN1

Genome feature

Region: gene ? Length: 1114034  
Location: 2:49918503-51032536 reverse strand Cyto location: 2p16.3

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Gene -> HPO annotation (Human Phenotype Ontology)

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2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



691 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results