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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NRXN3
neurexin 3
Chromosome 14 · 14q24.3-q31.1
NCBI Gene: 9369Ensembl: ENSG00000021645.20HGNC: HGNC:8010UniProt: A0A0A0MR89
77PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
adult behaviorvocalization behaviorsocial behaviorlearningobesitytype 2 diabetes mellitusShort statureRelative macrocephaly
✦AI Summary

NRXN3 is a presynaptic transmembrane cell adhesion molecule that functions as a synaptic organizer in the nervous system 1. It mediates trans-synaptic signaling by binding to postsynaptic partners including cerebellins and GRID1, regulating NMDA and AMPA receptor activity at hippocampal synapses [UniProt]. NRXN3 expression extends beyond neurons to cardiac, pulmonary, pancreatic, and other tissues 2, where it participates in cell-cell adhesion and intercellular connections involving dystroglycan and extracellular matrix proteins. Genomically, NRXN3 variants associate with multiple neuropsychiatric disorders including autism spectrum disorder, schizophrenia, and intellectual disability 1, with gene-by-environment interactions modulating smoking behavior maintenance 3. NRXN3 is also implicated in fibromyalgia pathogenesis through genome-wide association studies 4. Beyond the nervous system, NRXN3 dysfunction correlates with cardiac pathology: reduced expression associates with impaired left ventricular contractility, incident heart failure, and cardiovascular mortality in diabetic patients 5. Recent evidence reveals NRXN3 regulates pyroptotic cell death in intrahepatic cholangiocarcinoma by blocking caspase-3 phosphorylation, thereby enhancing chemosensitivity to gemcitabine 6. Additionally, NRXN3-mediated signaling participates in retinal neovascularization pathways in oxygen-induced retinopathy 7.

Sources cited
1
NRXN3 is a presynaptic transmembrane protein functioning as synaptic organizer; variants associated with autism, schizophrenia, intellectual disability
PMID: 29221905
2
NRXN3 is expressed in cardiac, pulmonary, pancreatic tissues with heart-specific splicing variants; participates in dystroglycan-involving complexes
PMID: 12379233
3
NRXN3 shows gene-by-environment interaction with smoking; involved in maintenance of smoking behavior
PMID: 23909413
4
NRXN3 identified as candidate gene associated with fibromyalgia pathogenesis through GWAS
PMID: 30486733
5
Low circulating NRXN3 associates with impaired left ventricular contractility, incident heart failure, and cardiovascular mortality
PMID: 39180332
6
NRXN3 regulates caspase-3-mediated pyroptosis in intrahepatic cholangiocarcinoma via blocking RSK1-dependent caspase-3 phosphorylation
PMID: 40324630
7
Nrxn3-Nlgn1 pathway implicated in retinal neovascularization and proliferative diabetic retinopathy
PMID: 39504047
Disease Associationsⓘ20
obesityOpen Targets
0.45Moderate
type 2 diabetes mellitusOpen Targets
0.42Moderate
Relative macrocephalyOpen Targets
0.42Moderate
Short statureOpen Targets
0.42Moderate
diabetes mellitusOpen Targets
0.39Weak
smoking initiationOpen Targets
0.39Weak
Abnormality of the skeletal systemOpen Targets
0.39Weak
smoking behaviorOpen Targets
0.36Weak
atrial fibrillationOpen Targets
0.35Weak
Abruptio PlacentaeOpen Targets
0.35Weak
liver diseaseOpen Targets
0.35Weak
preeclampsiaOpen Targets
0.34Weak
schizophreniaOpen Targets
0.34Weak
risk-taking behaviourOpen Targets
0.32Weak
obstructive sleep apneaOpen Targets
0.32Weak
metabolic syndromeOpen Targets
0.31Weak
morbid obesityOpen Targets
0.31Weak
substance-related disorderOpen Targets
0.31Weak
Abnormal urine sodium concentrationOpen Targets
0.30Weak
diabetic retinopathyOpen Targets
0.30Weak
Pathogenic Variants1
NM_001330195.2(NRXN3):c.1315A>G (p.Lys439Glu)Pathogenic
Short stature;Relative macrocephaly
☆☆☆☆→ Residue 439
View on ClinVar ↗
Related Genes
SHBGProtein interaction98%CASKProtein interaction98%NLGN2Protein interaction98%LRRTM2Protein interaction92%LRRTM3Protein interaction82%LRRTM4Protein interaction82%
Tissue Expression6 tissues
Brain
100%
Heart
13%
Lung
7%
Ovary
3%
Bone Marrow
3%
Liver
3%
Gene Interaction Network
Click a node to explore
NRXN3SHBGCASKNLGN2LRRTM2LRRTM3LRRTM4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HDB5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.32Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.17–0.32]
RankingsWhere NRXN3 stands among ~20K protein-coding genes
  • #6,189of 20,598
    Most Researched77
  • #4,973of 5,498
    Most Pathogenic Variants1
  • #1,284of 17,882
    Most Constrained (LOEUF)0.32 · top 10%
Genes detectedNRXN3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.
PMID: 36646705
Cell Discov · 2023
1.00
2
Fibromyalgia: Genetics and epigenetics insights may provide the basis for the development of diagnostic biomarkers.
PMID: 30486733
Mol Pain · 2019
0.90
3
Single-Cell Multiomics Profiling Reveals Heterogeneity of Müller Cells in the Oxygen-Induced Retinopathy Model.
PMID: 39504047
Invest Ophthalmol Vis Sci · 2024
0.80
4
The diabetic myocardial transcriptome reveals Erbb3 and Hspa2 as a novel biomarkers of incident heart failure.
PMID: 39180332
Cardiovasc Res · 2024
0.70
5
Neurexins and neuropsychiatric disorders.
PMID: 29221905
Neurosci Res · 2018
0.60