ADGRG1 (GPR56) Gene
Adhesion G Protein-Coupled Receptor G1: Role in Brain Development and Cancer
Gene Information Card
| Symbol | ADGRG1 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor G1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q21 |
| NCBI Gene ID | 9289 ncbi.nlm.nih.gov/gene/9289 |
| Ensembl ID | ENSG00000164136 |
| UniProt ID | Q9Y653 |
| OMIM ID | 604110 |
| HGNC ID | 4512 |
| Aliases | GPR56, TM7LN4, BFPP, DKFZp781L1398 |
Description
ADGRG1 (GPR56) encodes an adhesion G protein-coupled receptor involved in cell adhesion, migration, and signaling. It is critical for cortical development, particularly in the formation of the pial basement membrane. Mutations cause bilateral frontoparietal polymicrogyria (BFPP). The receptor also plays roles in immune regulation and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bilateral frontoparietal polymicrogyria (BFPP) | Loss-of-function mutations disrupt pial basement membrane integrity, leading to abnormal neuronal migration and cortical malformation. | OMIM #606854; multiple missense and nonsense mutations identified. |
| Colorectal cancer | ADGRG1 expression is altered; may promote tumor growth via G protein signaling and interaction with collagen III. | PubMed studies; COSMIC somatic mutations reported. |
| Melanoma | ADGRG1 acts as a tumor suppressor; loss of expression correlates with metastasis. | Functional studies in cell lines and xenografts. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | High expression |
| HEK293 (embryonic kidney) | 9.2 | Moderate |
| HCT116 (colorectal carcinoma) | 7.8 | Moderate |
| A375 (melanoma) | 3.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | Rare | Reduced cell surface expression; associated with BFPP. |
| c.287G>A (p.Arg96His) | Missense | Rare | Impaired receptor trafficking; BFPP. |
| c.1063C>T (p.Arg355*) | Nonsense | Rare | Truncated protein; loss of function; BFPP. |
| c.1543G>A (p.Gly515Arg) | Missense | Somatic (cancer) | Altered signaling; reported in colorectal cancer. |
Mutation functional classification
Loss of Function (LOF)
Most BFPP-associated mutations (missense, nonsense, frameshift) lead to loss of receptor function, impaired cell surface expression, or disrupted ligand binding.
Gain of Function (GOF)
Not well characterized; some somatic mutations in cancer may enhance signaling but evidence is limited.
Dominant Negative (DN)
No clear dominant-negative mutations reported; BFPP is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • cell adhesion |
| • cell migration | • brain development |
| • positive regulation of cAMP-mediated signaling | • extracellular matrix binding |
Pathways
• GPCR signaling
• Cell adhesion and migration
• cAMP signaling pathway
Protein Summary
ADGRG1 is a 693-amino acid adhesion GPCR with a large extracellular N-terminal domain containing a GPS (GPCR proteolysis site) motif. It undergoes autoproteolytic cleavage into an N-terminal fragment (NTF) and a C-terminal fragment (CTF) that remain non-covalently associated. The NTF mediates cell-cell and cell-matrix adhesion via binding to collagen III and other ligands. The CTF activates G proteins (primarily Gα12/13 and Gαq) to regulate RhoA and other downstream effectors. The protein is essential for proper cortical lamination and pial basement membrane formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRG1 Knockout HEK293 Cell Line | EDJ-KQ2788 | Human | 9289 | Details Get a Quote |
| ADGRG1 Knockout A-549 Cell Line | EDJ-KQ23714 | Human | 9289 | Details Get a Quote |
| ADGRG1 Knockout HCT 116 Cell Line | EDJ-KQ23715 | Human | 9289 | Details Get a Quote |
| ADGRG1 Knockout HeLa Cell Line | EDJ-KQ23716 | Human | 9289 | Details Get a Quote |
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