NRXN3
Homo sapiens
Gene Name: neurexin 3
Aliases: C14orf60
Chromosome No: 14
Chromosome Band: 14q24.3-q31.1
Genetic Category: Rare Single Gene variant-Genetic Association--Functional
Aliases: C14orf60
Chromosome No: 14
Chromosome Band: 14q24.3-q31.1
Genetic Category: Rare Single Gene variant-Genetic Association--Functional
Summary Statistics:
ASD Reports: 27
Recent Reports: 3
Annotated variants: 36
Associated CNVs: 5
Evidence score: 3
ASD Reports: 27
Recent Reports: 3
Annotated variants: 36
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the NRXN3 gene, including deletions and missense variants, have been identified in patients with ASD (Vaags et al., 2012).
Molecular Function
Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. NRXN3 is one of the largest known human genes. It utilizes two alternate promoters and includes numerous alternatively spliced exons to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms; a much smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
ASD
Positive Association
Genetic study of neurexin and neuroligin genes in Alzheimer's disease.
AD
Positive Association
Association study of NRXN3 polymorphisms with schizophrenia and risperidone-induced bodyweight gain in Chinese Han population.
SCZ
Positive Association
Neurexin gene family variants as risk factors for autism spectrum disorder.
ASD
Positive Association
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eos...
Depression
Support
Neurexin-3 defines synapse- and sex-dependent diversity of GABAergic inhibition in ventral subiculum
Support
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
ID, ASD
Epilepsy
Support
A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.
ASD or autistic features
ID, ADHD, SCZ
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Lessons learned from additional research analyses of unsolved clinical exome cases.
Short stature, macrocephaly
Support
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders
ASD
DD, ID
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Congenital heart defects, hypotonia
Low-normal cognitive ability
Support
Targeted proteoform mapping uncovers specific Neurexin-3 variants required for dendritic inhibition
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Distinct circuit-dependent functions of presynaptic neurexin-3 at GABAergic and glutamatergic synapses.
Recent Recommendation
Targeted combinatorial alternative splicing generates brain region-specific repertoires of neurexins.
Recent Recommendation
Presynaptic neurexin-3 alternative splicing trans-synaptically controls postsynaptic AMPA receptor trafficking.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN305R015
synonymous_variant
c.324C>T
p.Ser108=
De novo
Unknown
GEN305R020
missense_variant
c.2063A>G
p.Tyr688Cys
De novo
Multiplex (monozygotic twins)
GEN305R027a
missense_variant
c.3995G>A
p.Arg1332His
Familial
Both parents
Simplex
GEN305R028
frameshift_variant
c.159_160del
p.Phe53LeufsTer16
Familial
Maternal
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN305C001
intron_variant
rs7157669
c.-363+67456C>A;c.769+170643C>A;c.757+173474C>A
A>C
Chinese Han (1214 SCZ patients and 1517 controls)
Discovery
GEN305C002
intron_variant
rs724373
c.-363+72677T>C;c.770-168565T>C;c.758-168565T>C
C>T
Chinese Han (1214 SCZ patients and 1517 controls)
Discovery
GEN305C003
intron_variant
rs7154021
c.926-44127T>C;c.2081-44127T>C;c.2069-44127T>C;c.2045-44127T>C
C>T
Chinese Han (1214 SCZ patients and 1517 controls)
Discovery
GEN305C004
intron_variant
rs7141420
c.248-34110C>T;c.2144-34110C>T;c.3299-34110C>T;c.3287-34110C>T;c.3263-34110C>T
Minor allele, C
107 cases, 2864 controls
Discovery
GEN305C005
3_prime_UTR_variant
rs12879016
c.*1825G>T
529 Chinese ASD cases (441 male, 63 female, 25 without gender information; mean age, 8.24 3.16 years) and 1923 healthy Chinese controls (1683 male, 240 fermale; mean age, 61.38 8.51 years)
Discovery
