ADGRL3 (Adhesion G Protein-Coupled Receptor L3)
A comprehensive biomedical resource for ADGRL3, including gene information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ADGRL3 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor L3 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.1 |
| NCBI Gene ID | 23284 ncbi.nlm.nih.gov/gene/23284 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q9HAR2 |
| OMIM ID | 616417 |
| HGNC ID | 20973 |
| Aliases | LPHN3, KIAA0769, LEC2 |
Description
ADGRL3 (adhesion G protein-coupled receptor L3), also known as LPHN3 (latrophilin 3), is a member of the adhesion GPCR family. It is involved in cell adhesion, neuronal signaling, and synaptic function. Variants in ADGRL3 have been associated with attention deficit hyperactivity disorder (ADHD) and other neurodevelopmental conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Attention deficit hyperactivity disorder (ADHD) | Genetic variants in ADGRL3 are linked to altered synaptic signaling and neuronal connectivity, contributing to ADHD susceptibility. | Multiple genome-wide association studies (GWAS) and meta-analyses (e.g., Franke et al., 2012; Ribasés et al., 2011) report significant association. |
| Autism spectrum disorder (ASD) | Rare variants in ADGRL3 may disrupt adhesion GPCR function, affecting synapse formation and neural circuit development. | Case-control studies and exome sequencing (e.g., O'Roak et al., 2012) identify rare de novo mutations in ASD cohorts. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Lung | 1.8 | Low |
| Heart | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| U-87 MG (glioblastoma) | 6.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs6551665 (intronic variant) | SNV | 0.15 (global minor allele frequency) | Associated with ADHD risk in multiple populations |
| rs1947274 (intronic variant) | SNV | 0.20 | Linked to ADHD in meta-analyses |
| c.2071C>T (p.Arg691Trp) | missense | Rare (<0.01) | Potential loss-of-function; observed in ASD cases |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg691Trp) may impair receptor trafficking or signaling, reducing adhesion GPCR activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ADGRL3.
Dominant Negative (DN)
Not established for ADGRL3.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • cell adhesion |
| • synaptic signaling | • plasma membrane |
| • integral component of membrane | • calcium ion binding |
Pathways
• Adhesion GPCR signaling
• Neuronal system
• Synaptic adhesion
Protein Summary
ADGRL3 encodes a 1,474-amino-acid adhesion G protein-coupled receptor with a large extracellular N-terminal domain containing multiple adhesion motifs (e.g., lectin-like, olfactomedin-like). It interacts with teneurins and neurexins to mediate trans-synaptic adhesion and signaling. The protein is highly expressed in brain regions involved in attention and cognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRL3 Knockout HEK293 Cell Line | EDJ-KQ7945 | Human | 23284 | Details Get a Quote |
| ADGRL3 Knockout HeLa Cell Line | EDJ-KQ55713 | Human | 23284 | Details Get a Quote |
| ADGRL3 Knockout A-549 Cell Line | EDJ-KQ64213 | Human | 23284 | Details Get a Quote |
| ADGRL3 Knockout HCT 116 Cell Line | EDJ-KQ72657 | Human | 23284 | Details Get a Quote |
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