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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LRRTM4
leucine rich repeat transmembrane neuronal 4
Chromosome 2 · 2p12
NCBI Gene: 80059Ensembl: ENSG00000176204.14HGNC: HGNC:19411UniProt: B3KV11
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor activitypositive regulation of synapse assemblyplasma membranesynapsesmoking initiationinsomniainjurypneumonia
✦AI Summary

LRRTM4 is a leucine-rich repeat transmembrane protein that functions as a postsynaptic adhesion molecule critical for excitatory synapse development and maintenance in the nervous system. Mechanistically, LRRTM4 mediates trans-synaptic interactions through heparan sulfate proteoglycan (HSPG) receptors, particularly glypican 1, and engages in a transsynaptic complex with pikachurin at rod photoreceptor synapses 2. LRRTM4 shows cell-type-specific expression in the hippocampus, localizing to excitatory postsynaptic sites on dentate gyrus granule cells where it regulates synapse density and activity-dependent AMPA receptor trafficking 3. Clinically, LRRTM4 variants associate with neuropsychiatric conditions. Sex-specific genetic variations in LRRTM4 link to attempted suicide in bipolar disorder patients, with variants potentially regulating LRRTM4 brain expression and overlapping hormone response elements 4. LRRTM4 duplication appears associated with Tourette syndrome and autism spectrum disorder 5. A novel p.C538Y mutation causes autosomal dominant macular dystrophy with impaired ON-type bipolar cell function 6. Additionally, LRRTM4 expression correlates with cancer-associated fibroblast infiltration in intrahepatic cholangiocarcinoma, serving as a prognostic biomarker 7.

Sources cited
1
Glypican is an HSPG receptor for LRRTM4; trans-synaptic glypican-LRRTM4 interaction regulates excitatory synapse development
PMID: 23911103
2
LRRTM4 resides at rod bipolar cell dendritic tips and participates in GPR179-pikachurin-dystroglycan transsynaptic complex at rod synapses
PMID: 32390181
3
LRRTM4 shows cell-type-specific expression at excitatory postsynaptic sites on dentate gyrus granule cells; LRRTM4 knockout reduces synapse density and impairs AMPA receptor trafficking
PMID: 23911104
4
Sex-specific genetic variants in LRRTM4 associate with attempted suicide in bipolar disorder, with variants acting as expression QTLs overlapping hormone response elements
PMID: 31854516
5
LRRTM4 terminal exon duplication associates with Tourette syndrome and autism spectrum disorder in affected family members
PMID: 35052406
6
Novel p.C538Y mutation in LRRTM4 causes autosomal dominant macular dystrophy with ON-type bipolar cell dysfunction
PMID: 29760528
7
LRRTM4 expression correlates with cancer-associated fibroblast infiltration in intrahepatic cholangiocarcinoma and serves as prognostic biomarker
PMID: 38702814
Disease Associationsⓘ20
smoking initiationOpen Targets
0.41Moderate
insomniaOpen Targets
0.41Moderate
injuryOpen Targets
0.35Weak
pneumoniaOpen Targets
0.34Weak
fungal lung infectious diseaseOpen Targets
0.34Weak
restless legs syndromeOpen Targets
0.33Weak
Abruptio PlacentaeOpen Targets
0.33Weak
response to antihypertensive drugOpen Targets
0.32Weak
risk-taking behaviourOpen Targets
0.32Weak
vascular diseaseOpen Targets
0.32Weak
cellulitisOpen Targets
0.30Weak
COVID-19Open Targets
0.30Weak
abscessOpen Targets
0.29Weak
acquired thrombocytopeniaOpen Targets
0.29Weak
Graves diseaseOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.28Weak
eye diseaseOpen Targets
0.28Weak
chondromalaciaOpen Targets
0.28Weak
bronchial diseaseOpen Targets
0.28Weak
attention deficit hyperactivity disorderOpen Targets
0.27Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LRRC24Shared pathway100%LRRTM1Shared pathway100%GPC4Protein interaction96%CNPY2Protein interaction85%CTNNA2Protein interaction84%NRXN3Protein interaction82%
Tissue Expression6 tissues
Brain
100%
Heart
12%
Liver
5%
Lung
3%
Ovary
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
LRRTM4LRRC24LRRTM1GPC4CNPY2CTNNA2NRXN3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q4KMX1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.36–0.69]
RankingsWhere LRRTM4 stands among ~20K protein-coding genes
  • #14,461of 20,598
    Most Researched19
  • #5,247of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedLRRTM4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative analyses of bulk and single-cell transcriptomics reveals the infiltration and crosstalk of cancer-associated fibroblasts as a novel predictor for prognosis and microenvironment remodeling in intrahepatic cholangiocarcinoma.
PMID: 38702814
J Transl Med · 2024
1.00
2
LRRTM4 is a member of the transsynaptic complex between rod photoreceptors and bipolar cells.
PMID: 32390181
J Comp Neurol · 2021
0.90
3
Targeted sequencing of the LRRTM gene family in suicide attempters with bipolar disorder.
PMID: 31854516
Am J Med Genet B Neuropsychiatr Genet · 2020
0.80
4
Unbiased discovery of glypican as a receptor for LRRTM4 in regulating excitatory synapse development.
PMID: 23911103
Neuron · 2013
0.70
5
An LRRTM4-HSPG complex mediates excitatory synapse development on dentate gyrus granule cells.
PMID: 23911104
Neuron · 2013
0.60