ADGRF5
Adhesion G Protein-Coupled Receptor F5
Gene Information Card
| Symbol | ADGRF5 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor F5 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.3 |
| NCBI Gene ID | 221393 ncbi.nlm.nih.gov/gene/221393 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8IZF2 |
| OMIM ID | 612264 |
| HGNC ID | 19094 |
| Aliases | GPR116, KPG_001, PGR18 |
Description
ADGRF5 (Adhesion G Protein-Coupled Receptor F5) is a member of the adhesion GPCR family. It encodes a transmembrane receptor involved in cell adhesion and signaling, with roles in lung surfactant homeostasis, immune regulation, and vascular development. The gene is located on chromosome 6p12.3 and is expressed in multiple tissues, particularly lung and placenta.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic Pulmonary Fibrosis | Dysregulation of ADGRF5 signaling may impair alveolar epithelial repair | PMID: 25605876 |
| Breast Cancer | ADGRF5 overexpression associated with tumor progression and metastasis | PMID: 26051946 |
| Obesity | ADGRF5 variants linked to body mass index in GWAS | PMID: 30239722 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 48.2 | High |
| Placenta | 32.1 | High |
| Kidney | 18.7 | Medium |
| Liver | 5.3 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 62.5 | High expression |
| HEK 293 (embryonic kidney) | 28.3 | Moderate expression |
| HepG2 (liver carcinoma) | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2158C>T (p.Arg720Trp) | missense | 0.02% (gnomAD) | Unknown functional impact |
| c.3145G>A (p.Gly1049Ser) | missense | 0.01% (gnomAD) | Potential loss of function |
| c.1234_1236del (p.Phe412del) | in-frame deletion | Rare | Alters receptor conformation |
Mutation functional classification
Loss of Function (LOF)
c.3145G>A (p.Gly1049Ser) may reduce receptor signaling
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • cell adhesion |
| • plasma membrane | • transmembrane signaling receptor activity |
Pathways
• GPCR downstream signaling
• Adhesion GPCR signaling
Protein Summary
ADGRF5 encodes a 1349-amino acid adhesion GPCR with a large extracellular N-terminal domain containing multiple adhesion motifs (e.g., EGF-like, GPS domain). It mediates cell-cell and cell-matrix interactions and activates G protein-dependent and independent pathways. The protein is cleaved at the GPS site into an N-terminal fragment (NTF) and a C-terminal fragment (CTF) that remain non-covalently associated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRF5 Knockout HEK293 Cell Line | EDJ-KQ8819 | Human | 221395 | Details Get a Quote |
| ADGRF5 Knockout HeLa Cell Line | EDJ-KQ59163 | Human | 221395 | Details Get a Quote |
| ADGRF5 Knockout A-549 Cell Line | EDJ-KQ67636 | Human | 221395 | Details Get a Quote |
| ADGRF5 Knockout HCT 116 Cell Line | EDJ-KQ76021 | Human | 221395 | Details Get a Quote |
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