ADGRG2
Adhesion G Protein-Coupled Receptor G2
Gene Information Card
| Symbol | ADGRG2 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor G2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.13 |
| NCBI Gene ID | 10149 ncbi.nlm.nih.gov/gene/10149 |
| Ensembl ID | ENSG00000173698 |
| UniProt ID | Q8IZP9 |
| OMIM ID | 300572 |
| HGNC ID | 4516 |
| Aliases | GPR64, HE6, EDDM6 |
Description
ADGRG2 (Adhesion G Protein-Coupled Receptor G2), also known as GPR64, is a member of the adhesion GPCR family. It is predominantly expressed in the epididymis and plays a critical role in male fertility by regulating fluid reabsorption and sperm maturation. Mutations in ADGRG2 are associated with congenital bilateral absence of the vas deferens (CBAVD) and obstructive azoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital bilateral absence of the vas deferens (CBAVD) | Loss-of-function mutations impair epididymal fluid reabsorption, leading to obstruction | PMID: 27081566, ClinVar |
| Obstructive azoospermia | Disrupted ADGRG2 signaling causes defective sperm transport | PMID: 27081566 |
| Male infertility | ADGRG2 deficiency results in impaired sperm maturation and motility | OMIM #300572 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Epididymis | 112.5 | High |
| Testis | 8.3 | Medium |
| Prostate | 4.1 | Low |
| Kidney | 2.0 | Low |
| Lung | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HPAF-II | 0.0 | Not detected |
| HEK 293 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
| K-562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1699C>T (p.Arg567*) | Nonsense | Rare | Loss of function; associated with CBAVD |
| c.2005C>T (p.Arg669Cys) | Missense | Rare | Likely loss of function; reported in CBAVD |
| c.2266G>A (p.Gly756Arg) | Missense | Rare | Uncertain significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations in ADGRG2 disrupt receptor signaling and epididymal function, leading to CBAVD.
Gain of Function (GOF)
No gain-of-function mutations reported for ADGRG2.
Dominant Negative (DN)
No dominant-negative mutations reported for ADGRG2.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • cell adhesion |
| • plasma membrane | • integral component of membrane |
| • receptor activity |
Pathways
• Adhesion GPCR signaling
• GPCR downstream signaling
Protein Summary
ADGRG2 is a 1017-amino acid adhesion GPCR with a large extracellular N-terminal domain containing multiple adhesion motifs (e.g., GPS domain). It is highly expressed in the epididymis and mediates signaling through G proteins, influencing fluid transport and sperm maturation. The protein undergoes autoproteolytic cleavage at the GPS domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRG2 Knockout HEK293 Cell Line | EDJ-KQ6923 | Human | 10149 | Details Get a Quote |
| ADGRG2 Knockout A-549 Cell Line | EDJ-KQ31561 | Human | 10149 | Details Get a Quote |
| ADGRG2 Knockout HeLa Cell Line | EDJ-KQ31562 | Human | 10149 | Details Get a Quote |
| ADGRG2 Knockout HCT 116 Cell Line | EDJ-KQ72271 | Human | 10149 | Details Get a Quote |
