ADGRV1 (Adhesion G Protein-Coupled Receptor V1)
A key gene in Usher syndrome type 2C and hearing loss
Gene Information Card
| Symbol | ADGRV1 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor V1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q14.3 |
| NCBI Gene ID | 84059 ncbi.nlm.nih.gov/gene/84059 |
| Ensembl ID | ENSG00000164199 |
| UniProt ID | Q8WXG9 |
| OMIM ID | 602851 |
| HGNC ID | 17416 |
| Aliases | VLGR1, GPR98, MASS1, FEB4, USH2C |
Description
ADGRV1 encodes a member of the adhesion G protein-coupled receptor (GPCR) family. The protein, also known as VLGR1, is a very large GPCR involved in cell adhesion and signaling. It is essential for the development and function of sensory cells in the inner ear and retina. Mutations in ADGRV1 cause Usher syndrome type 2C, characterized by congenital hearing loss and progressive retinitis pigmentosa.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Usher syndrome type 2C | Loss-of-function mutations disrupt hair cell and photoreceptor cell adhesion/signaling | ClinVar, OMIM |
| Febrile seizures (FEB4) | Missense variants may alter neuronal excitability | OMIM |
| Epilepsy (partial) | Rare variants associated with seizure susceptibility | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | High | High |
| Retina | High | High |
| Brain | Moderate | Moderate |
| Testis | Low | Low |
| Kidney | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Moderate | Expressed |
| HEK293 (embryonic kidney) | Low | Detectable |
| SH-SY5Y (neuroblastoma) | Low | Detectable |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1853G>A (p.Trp618*) | Nonsense | Rare | Loss of function, truncation |
| c.14689C>T (p.Arg4897*) | Nonsense | Rare | Loss of function, truncation |
| c.1234C>T (p.Arg412Cys) | Missense | Rare | Likely damaging, altered protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons are common in Usher syndrome type 2C.
Gain of Function (GOF)
Not reported for ADGRV1.
Dominant Negative (DN)
Not reported for ADGRV1.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • cell adhesion |
| • photoreceptor cell maintenance | • sensory perception of sound |
| • plasma membrane | • integral component of membrane |
Pathways
• GPCR signaling
• Cell adhesion molecules (CAMs)
Protein Summary
ADGRV1 encodes a large adhesion GPCR (VLGR1) with a long extracellular domain containing multiple calcium-binding and laminin-like repeats. It localizes to the stereocilia of hair cells and the periciliary region of photoreceptors, mediating cell-matrix interactions and signaling. The protein is critical for the structural integrity of sensory cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRV1 Knockout HEK293 Cell Line | EDJ-KQ9960 | Human | 84059 | Details Get a Quote |
| ADGRV1 Knockout A-549 Cell Line | EDJ-KQ36881 | Human | 84059 | Details Get a Quote |
| ADGRV1 Knockout HCT 116 Cell Line | EDJ-KQ36882 | Human | 84059 | Details Get a Quote |
| ADGRV1 Knockout HeLa Cell Line | EDJ-KQ57523 | Human | 84059 | Details Get a Quote |
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