NRXN1 Chromosome 2
Neurexin 1
Upload your DNA to see your personal genotypes for variants in NRXN1.
What This Gene Does
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]
Gene Info
Gene Group
"Neurexins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2p16.3
Ensembl
ENSG00000179915
Associated Conditions (12)
Pitt-Hopkins-like syndrome 2
History of neurodevelopmental disorder
Chromosome 2p16.3 deletion syndrome
Inborn genetic diseases
NRXN1-related disorder
Obesity
Intellectual disability
See cases
Adrenocortical carcinoma
hereditary
Autism spectrum disorder
Schizophrenia 17
Key Variants
RS1039999157
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS1057520338
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS112536447
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, History of neurodevelopmental disorder, Pitt-Hopkins-like syndrome 2
Health Risk
RS112638127
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS113028018
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS113067443
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome, Pitt-Hopkins-like syndrome 2
Health Risk
RS1259694734
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS1307802785
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
Health Risk
RS1324701043
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS141566634
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, NRXN1-related disorder, Pitt-Hopkins-like syndrome 2
Health Risk
RS1430859209
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS143446587
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
Health Risk
All Variants (177)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2105317922 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2152626377 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2465541308 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2465581520 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2465664142 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2465829202 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2466813017 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2466814183 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2466868754 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2466962714 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2468067820 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2468076244 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2468080963 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2468654831 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS267606922 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS756908062 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS774740761 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS774889610 | Health Risk | Pathogenic | Autism spectrum disorder, Pitt-Hopkins-like syndrome 2, Autism spectrum disorder |
| RS796052787 | Health Risk | Pathogenic | — |
| RS886042846 | Health Risk | Pathogenic | — |
| RS1201575289 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS1282230077 | Health Risk | Pathogenic/Likely pathogenic | Autism spectrum disorder, Pitt-Hopkins-like syndrome 2, Autism spectrum disorder |
| RS1388095672 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2 |
| RS1470931619 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS1558610072 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS1575270894 | Health Risk | Pathogenic/Likely pathogenic | Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS1558507406 | Health Risk | risk factor | Schizophrenia 17, Schizophrenia 17 |