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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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LRFN2
leucine rich repeat and fibronectin type III domain containing 2
Chromosome 6 · 6p21.2-p21.1
NCBI Gene: 57497Ensembl: ENSG00000156564.10HGNC: HGNC:21226UniProt: Q9ULH4
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranecell surfacepostsynaptic density membranepresynapseAbnormality of the skeletal systemobesitytype 2 diabetes mellitussquamous cell carcinoma
✦AI Summary

LRFN2 is a synaptic adhesion molecule with dual roles in neural and non-neural tissues. In the nervous system, LRFN2 functions as a core component of excitatory synapse maturation, promoting neurite outgrowth in hippocampal neurons 1 and enhancing cell surface expression of NMDA receptor subunits GRIN1 and GRIN2A [UniProt]. LRFN2 interacts with PSD-95 and sorting nexin-27 to regulate AMPA receptor trafficking and synaptic plasticity 2. In the retina, LRFN2 stabilizes cone pedicle contacts with OFF bipolar cells and organizes glutamate receptor clusters to establish visual pathway organization 3. Beyond neurobiology, LRFN2 exhibits tissue-specific expression in pancreatic β-cells 4 and functions as an immunosuppressive factor in bladder cancer, where tumor-intrinsic LRFN2 inhibits CD8+ T-cell recruitment and infiltration, promoting immunotherapy resistance 5. In esophageal squamous cell carcinoma, LRFN2 acts as a tumor suppressor through NMDAR-dependent inhibition of Wnt/β-catenin and NF-κB signaling 6. Loss-of-function LRFN2 mutations are associated with autism-like behaviors and learning disabilities 1, while genetic variants show associations with esophageal cancer susceptibility 7. These findings establish LRFN2 as a multifunctional protein integrating synaptic organization, visual processing, and immune regulation.

Sources cited
1
LRFN2 is a PSD-95-interacting synaptic adhesion molecule critical for excitatory synapse maturation; Lrfn2 knockout causes autism-like behaviors, enhanced learning, and synaptic immaturity
PMID: 28604739
2
Sorting nexin-27 regulates LRFN2 endosomal sorting; LRFN2 associates with AMPA receptors and controls surface expression, synaptic activity, and long-term potentiation
PMID: 34251337
3
LRFN2 localizes to cone pedicles and stabilizes contacts between cone pedicles and OFF bipolar dendrites to establish the OFF visual pathway
PMID: 40251167
4
LRFN2 is identified as a novel non-canonical gene marker selectively expressed in human pancreatic β-cells
PMID: 37127706
5
Tumor-intrinsic LRFN2 drives immunotherapy resistance in bladder cancer by inhibiting CD8+ T-cell recruitment, infiltration, and functional transition
PMID: 37802603
6
LRFN2 acts as a tumor suppressor in esophageal squamous cell carcinoma through NMDAR-GRIN2B binding and inhibition of Wnt/β-catenin and NF-κB pathways
PMID: 35879265
7
LRFN2 variant rs2494938 is associated with esophageal cancer susceptibility in Asian and Indian populations
PMID: 32880595
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.48Moderate
obesityOpen Targets
0.46Moderate
type 2 diabetes mellitusOpen Targets
0.46Moderate
squamous cell carcinomaOpen Targets
0.41Moderate
risk-taking behaviourOpen Targets
0.40Moderate
overnutritionOpen Targets
0.38Weak
morbid obesityOpen Targets
0.38Weak
smoking initiationOpen Targets
0.37Weak
mathematical abilityOpen Targets
0.35Weak
insomniaOpen Targets
0.34Weak
gastric carcinomaOpen Targets
0.33Weak
lung carcinomaOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.31Weak
heart failureOpen Targets
0.30Weak
preeclampsiaOpen Targets
0.30Weak
attention deficit hyperactivity disorderOpen Targets
0.30Weak
substance abuseOpen Targets
0.30Weak
major salivary gland cancerOpen Targets
0.30Weak
musculoskeletal system diseaseOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DLG1Protein interaction80%DLG3Protein interaction80%DLG4Protein interaction80%GRIN1Protein interaction80%GRIN2AProtein interaction80%AKAP7Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
59%
Ovary
32%
Liver
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
LRFN2DLG1DLG3DLG4GRIN1GRIN2AAKAP7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9ULH4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.49 [0.34–0.73]
RankingsWhere LRFN2 stands among ~20K protein-coding genes
  • #13,231of 20,598
    Most Researched24
  • #5,691of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedLRFN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Bladder cancer intrinsic LRFN2 drives anticancer immunotherapy resistance by attenuating CD8
PMID: 37802603
J Immunother Cancer · 2023
1.00
2
Sorting nexin-27 regulates AMPA receptor trafficking through the synaptic adhesion protein LRFN2.
PMID: 34251337
Elife · 2021
0.90
3
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles.
PMID: 37127706
Genome Med · 2023
0.80
4
Molecular mechanism establishing the OFF pathway in vision.
PMID: 40251167
Nat Commun · 2025
0.70
5
Autism-like behaviours and enhanced memory formation and synaptic plasticity in Lrfn2/SALM1-deficient mice.
PMID: 28604739
Nat Commun · 2017
0.60