ADGRG6 (GPR126) Gene
Adhesion G Protein-Coupled Receptor G6: Structure, Function, and Clinical Significance
Gene Information Card
| Symbol | ADGRG6 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor G6 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.2 |
| NCBI Gene ID | 57211 ncbi.nlm.nih.gov/gene/57211 |
| Ensembl ID | ENSG00000112414 |
| UniProt ID | Q86SQ4 |
| OMIM ID | 612243 |
| HGNC ID | 13840 |
| Aliases | GPR126, DREG, PS1TP2, VIGR |
Description
ADGRG6 (GPR126) encodes an adhesion G protein-coupled receptor involved in Schwann cell myelination, lung development, and cardiac function. It is essential for peripheral nervous system myelination and has been implicated in hearing loss, lung function, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary hearing loss | Loss-of-function variants impair Schwann cell myelination of the auditory nerve | ClinVar, OMIM |
| Lung function impairment (FEV1) | ADGRG6 variants associated with reduced forced expiratory volume | GWAS (NCBI) |
| Idiopathic pulmonary fibrosis | Dysregulated ADGRG6 expression in lung fibroblasts | NCBI Gene, PubMed |
| Cancer (multiple types) | Altered expression in glioblastoma, melanoma, and breast cancer; potential role in tumor progression | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 6.1 | Low |
| Peripheral nerve | 15.2 | High |
| Skin | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Schwann cells | 18.0 | High expression; critical for myelination |
| Lung fibroblasts | 10.2 | Moderate expression; relevant to fibrosis |
| HEK293 | 3.5 | Low endogenous expression |
| SH-SY5Y | 7.8 | Moderate expression in neuronal lineage |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2674C>T (p.Arg892*) | Nonsense | <0.01% | Loss of function; associated with hearing loss |
| c.1090G>A (p.Gly364Ser) | Missense | 0.02% | Reduced receptor activity; linked to lung function |
| c.1846G>A (p.Val616Met) | Missense | 0.01% | Unknown functional effect; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein, impairing receptor signaling and myelination.
Gain of Function (GOF)
Not well-documented; some missense variants may increase constitutive activity but evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported for ADGRG6.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • Schwann cell differentiation |
| • myelination | • cell adhesion |
| • positive regulation of cAMP-mediated signaling | • integral component of plasma membrane |
Pathways
• GPCR signaling (cAMP pathway)
• Schwann cell myelination (NRG1/ErbB signaling)
• Lung development and function
Protein Summary
ADGRG6 is a 1,215-amino-acid adhesion GPCR with a large extracellular N-terminal domain containing multiple adhesion motifs (e.g., GPS domain). It couples to Gs proteins to increase cAMP levels. In Schwann cells, it is essential for radial sorting and myelination. In lung, it modulates fibroblast activity and airway function. Mutations cause hereditary hearing loss and influence pulmonary function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRG6 Knockout HEK293 Cell Line | EDJ-KQ12070 | Human | 57211 | Details Get a Quote |
| ADGRG6 Knockout A-549 Cell Line | EDJ-KQ40721 | Human | 57211 | Details Get a Quote |
| ADGRG6 Knockout HCT 116 Cell Line | EDJ-KQ40722 | Human | 57211 | Details Get a Quote |
| ADGRG6 Knockout HeLa Cell Line | EDJ-KQ40723 | Human | 57211 | Details Get a Quote |
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