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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LRRTM1
leucine rich repeat transmembrane neuronal 1
Chromosome 2 · 2p12
NCBI Gene: 347730Ensembl: ENSG00000162951.12HGNC: HGNC:19408UniProt: Q86UE6
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell surfaceGABA-ergic synapsepostsynaptic specialization membraneendoplasmic reticulumsmoking behaviorsmoking initiationhemangioma of subcutaneous tissueattention deficit hyperactivity disorder
✦AI Summary

LRRTM1 (leucine-rich repeat transmembrane neuronal 1) is a synaptogenic cell adhesion molecule that mediates excitatory synapse formation at both pre- and postsynaptic levels 1. The protein functions as a trans-synaptic ligand, binding presynaptic neurexins to regulate neurotransmission and synaptic differentiation 1. LRRTM1 is notably an imprinted gene showing maternal suppression, with paternally-inherited genetic variation significantly associated with human handedness and functional cerebral asymmetries, particularly when cognitive control mechanisms are engaged 23. Genetic variation in LRRTM1 demonstrates continuity between clinical schizophrenia and subclinical schizotypy, with risk alleles linked to higher schizotypy levels in nonclinical populations 4. Additionally, epigenetic modifications (methylation) in the LRRTM1 promoter region associate with mixed-handedness development 4. LRRTM1 resides within the seventh intron of CTNNA2, sharing bidirectional promoters that coordinate expression of both genes with differential effects on neuronal connectivity 5. Emerging evidence suggests LRRTM1 expression changes correlate with neurodegenerative processes, including reduced expression in Alzheimer's disease patients 6. The gene represents a candidate locus for understanding molecular mechanisms underlying brain asymmetry, neurodevelopmental disorders, and psychiatric conditions.

Sources cited
1
LRRTM proteins function as postsynaptic binding partners for presynaptic neurexins in trans-synaptic complexes regulating synaptic function
PMID: 24083347
2
LRRTM1 is an imprinted gene with maternal suppression; paternally-inherited haplotype associates with handedness and schizophrenia; expressed during forebrain development
PMID: 17667961
3
LRRTM1 SNPs associated with schizotypy in nonclinical populations; methylation variation in LRRTM1 promoter associates with mixed handedness
PMID: 24785688
4
LRRTM1 rs6733871 polymorphism affects functional cerebral asymmetries in language domain when cognitive control processes modulate attentional selection
PMID: 28321770
5
LRRTM1 shares bidirectional promoters with CTNNA2; schizophrenia-associated haplotype upstream of LRRTM1 may influence brain-enriched CTNNA2 alternative transcripts
PMID: 21708131
6
LRRTM1 expression is reduced in Alzheimer's disease patients compared to controls; identified as potential molecular marker and treatment target
PMID: 33027797
Disease Associationsⓘ20
smoking behaviorOpen Targets
0.25Weak
smoking initiationOpen Targets
0.25Weak
hemangioma of subcutaneous tissueOpen Targets
0.25Weak
attention deficit hyperactivity disorderOpen Targets
0.22Weak
crush injuryOpen Targets
0.20Weak
ulcerative colitisOpen Targets
0.20Weak
male reproductive system diseaseOpen Targets
0.15Weak
glomerulonephritisOpen Targets
0.15Weak
risk-taking behaviourOpen Targets
0.15Weak
substance abuseOpen Targets
0.15Weak
endocrine neoplasmOpen Targets
0.14Weak
diabetic neuropathyOpen Targets
0.12Weak
liver diseaseOpen Targets
0.11Weak
Genu valgumOpen Targets
0.11Weak
Genu varumOpen Targets
0.11Weak
respiratory tract infectious disorderOpen Targets
0.10Suggestive
tooth diseaseOpen Targets
0.09Suggestive
pyelonephritisOpen Targets
0.09Suggestive
tympanic membrane diseaseOpen Targets
0.09Suggestive
bipolar disorderOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LRRTM4Shared pathway100%LRRC24Shared pathway100%DLG4Protein interaction99%CTNNA2Protein interaction90%NRXN1Protein interaction90%NRXN2Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Heart
34%
Liver
9%
Ovary
6%
Bone Marrow
5%
Lung
0%
Gene Interaction Network
Click a node to explore
LRRTM1LRRTM4LRRC24DLG4CTNNA2NRXN1NRXN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86UE6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.13–0.39]
RankingsWhere LRRTM1 stands among ~20K protein-coding genes
  • #13,691of 20,598
    Most Researched22
  • #1,911of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedLRRTM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Neurexins.
PMID: 24083347
Genome Biol · 2013
1.00
2
The imprinted gene LRRTM1 mediates schizotypy and handedness in a nonclinical population.
PMID: 24785688
J Hum Genet · 2014
0.90
3
Bidirectional transcription from human LRRTM2/CTNNA1 and LRRTM1/CTNNA2 gene loci leads to expression of N-terminally truncated CTNNA1 and CTNNA2 isoforms.
PMID: 21708131
Biochem Biophys Res Commun · 2011
0.80
4
Cognitive Control Processes and Functional Cerebral Asymmetries: Association with Variation in the Handedness-Associated Gene LRRTM1.
PMID: 28321770
Mol Neurobiol · 2018
0.70
5
LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia.
PMID: 17667961
Mol Psychiatry · 2007
0.60