ADGRE2: Adhesion G Protein-Coupled Receptor E2
A comprehensive resource for ADGRE2 gene, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ADGRE2 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor E2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 30817 ncbi.nlm.nih.gov/gene/30817 |
| Ensembl ID | ENSG00000105329 |
| UniProt ID | Q9HCN6 |
| OMIM ID | 600904 |
| HGNC ID | 1386 |
| Aliases | CD312, EMR2 |
Description
ADGRE2 (Adhesion G Protein-Coupled Receptor E2) is a protein-coding gene that encodes a member of the adhesion G protein-coupled receptor (GPCR) family. The protein is characterized by an extracellular domain with EGF-like repeats and a GPCR proteolytic site (GPS) domain. It is involved in cell adhesion, migration, and immune responses. The gene is located on chromosome 19p13.12 and is expressed in various tissues, particularly in the immune system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vibratory Urticaria | ADGRE2 mutations (e.g., C492Y) lead to increased receptor signaling upon mechanical vibration, causing mast cell degranulation and urticaria. | ClinVar, OMIM |
| Cancer (potential) | ADGRE2 overexpression or mutations may contribute to tumor progression and metastasis through altered cell adhesion and signaling. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone Marrow | 8.9 | Medium |
| Blood | 7.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| K562 | 9.8 | Moderate expression |
| HeLa | 6.4 | Low expression |
| MCF7 | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| C492Y | Missense | Rare | Gain-of-function; associated with vibratory urticaria |
| R492H | Missense | Rare | Likely gain-of-function; reported in urticaria |
| Splice site variant | Splice | Unknown | Potential loss-of-function; observed in cancer |
Mutation functional classification
Loss of Function (LOF)
Splice site variants may reduce protein expression or function, potentially linked to immune dysregulation.
Gain of Function (GOF)
C492Y and R492H mutations enhance mechanosensitivity, leading to mast cell activation and vibratory urticaria.
Dominant Negative (DN)
No dominant-negative mutations reported for ADGRE2.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • cell adhesion |
| • positive regulation of mast cell degranulation | • plasma membrane |
| • integral component of membrane |
Pathways
• GPCR signaling
• Cell adhesion molecules (CAMs)
Protein Summary
The ADGRE2 protein (UniProt Q9HCN6) is a 823-amino acid adhesion GPCR with a large extracellular N-terminal region containing EGF-like domains, a GPS domain, and a seven-transmembrane domain. It is expressed on myeloid cells and mast cells, where it mediates cell adhesion and mechanosensitive signaling. Mutations in the GPS domain can cause constitutive or enhanced signaling, leading to vibratory urticaria. The protein is also implicated in cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRE2 Knockout HEK293 Cell Line | EDJ-KQ9180 | Human | 30817 | Details Get a Quote |
| ADGRE2 Knockout HCT 116 Cell Line | EDJ-KQ35726 | Human | 30817 | Details Get a Quote |
| ADGRE2 Knockout HeLa Cell Line | EDJ-KQ35727 | Human | 30817 | Details Get a Quote |
| ADGRE2 Knockout A-549 Cell Line | EDJ-KQ64640 | Human | 30817 | Details Get a Quote |
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