ADGRL2 (Adhesion G Protein-Coupled Receptor L2)

A comprehensive biomedical resource for ADGRL2 gene, including genomic annotations, expression data, disease associations, and functional classification.

Gene Information Card

Symbol ADGRL2
Full Name Adhesion G Protein-Coupled Receptor L2
Gene Type protein-coding
Chromosomal Location 1p31.1
NCBI Gene ID 23266 ncbi.nlm.nih.gov/gene/23266
Ensembl ID ENSG00000117114
UniProt ID O95490
OMIM ID 607018
HGNC ID 21238
Aliases LPHN2, KIAA0786, CIRL2, LEC2

Description

ADGRL2 (Adhesion G Protein-Coupled Receptor L2), also known as LPHN2 (latrophilin 2), is a member of the adhesion G protein-coupled receptor (GPCR) family. It is characterized by a large extracellular N-terminal region containing multiple domains, including a lectin-like domain, an olfactomedin-like domain, and a hormone-binding domain. ADGRL2 is involved in cell adhesion, signaling, and synaptic function. It is expressed in various tissues, particularly in the brain, and has been implicated in neurodevelopmental disorders and cancer.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Neurodevelopmental disorders ADGRL2 mutations may disrupt synaptic adhesion and signaling, contributing to autism spectrum disorder and intellectual disability. ClinVar, OMIM
Breast cancer Altered ADGRL2 expression is associated with tumor progression and metastasis, possibly through modulation of cell adhesion and migration. COSMIC, NCBI Gene
Colorectal cancer ADGRL2 overexpression has been linked to poor prognosis and may promote cancer cell proliferation. COSMIC, PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Heart 8.3 Low
Lung 6.1 Low
Liver 2.4 Not detected
Kidney 7.8 Low
Testis 15.2 Medium
Cell Line Expression
Cell Line nTPM Notes
HEK 293 10.1 Moderate expression
SH-SY5Y 14.3 High expression
MCF7 6.7 Low expression
HCT116 9.5 Moderate expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense <0.01% Loss of function; associated with neurodevelopmental disorders
c.2567A>G (p.Asn856Ser) Missense 0.02% Unknown significance; reported in ClinVar
c.3456_3457insA (p.Glu1153Argfs*5) Frameshift <0.01% Loss of function; likely pathogenic
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations that truncate the protein or disrupt the GPCR domain are classified as loss-of-function.

Gain of Function (GOF)

No well-characterized gain-of-function mutations have been reported for ADGRL2.

Dominant Negative (DN)

No dominant-negative mutations have been described for ADGRL2.

Gene Ontology (GO)

• G protein-coupled receptor signaling pathway • cell adhesion
• synaptic signaling • plasma membrane
• integral component of membrane • calcium ion binding

Pathways

GPCR signaling
Cell adhesion molecules (CAMs)
Neuroactive ligand-receptor interaction

Protein Summary

ADGRL2 encodes a 1,461-amino-acid protein (UniProt O95490) that belongs to the adhesion GPCR family. The protein contains an N-terminal signal peptide, a lectin-like domain, an olfactomedin-like domain, a hormone-binding domain, a GPCR proteolytic site (GPS), and a seven-transmembrane domain. It is involved in cell-cell adhesion and intracellular signaling, particularly in the nervous system. The protein undergoes autoproteolytic cleavage at the GPS motif, producing an N-terminal fragment (NTF) and a C-terminal fragment (CTF) that remain non-covalently associated.

Related Products

Product name Cat.No. Species Gene ID
ADGRL2 Knockout HEK293 Cell Line EDJ-KQ7930 Human 23266 Details Get a Quote
ADGRL2 Knockout HeLa Cell Line EDJ-KQ32249 Human 23266 Details Get a Quote
ADGRL2 Knockout A-549 Cell Line EDJ-KQ33577 Human 23266 Details Get a Quote
ADGRL2 Knockout HCT 116 Cell Line EDJ-KQ72654 Human 23266 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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