NRXN3
Chr 14neurexin 3
Also known as: C14orf60
NRXN3 encodes a presynaptic neuronal cell adhesion molecule that functions in trans-synaptic complexes to regulate NMDA and AMPA receptor activity at hippocampal synapses. Mutations cause neurodevelopmental disorders including autism spectrum disorder and intellectual disability with autosomal dominant inheritance. The gene is highly constrained against loss-of-function mutations, indicating that NRXN3 variants are likely to have significant clinical impact.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NRXN3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools