QRFPR Gene (Pyroglutamylated RFamide Peptide Receptor)
Comprehensive genomic and functional analysis of QRFPR, a G-protein coupled receptor involved in energy homeostasis and neuroendocrine signaling.
Gene Information Card
| Symbol | QRFPR |
|---|---|
| Full Name | Pyroglutamylated RFamide peptide receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 84109 ncbi.nlm.nih.gov/gene/84109 |
| Ensembl ID | ENSG00000164120 |
| UniProt ID | Q96P65 |
| OMIM ID | 606036 |
| HGNC ID | 17828 |
| Aliases | GPR103, AQ27, SP9155 |
Description
QRFPR (pyroglutamylated RFamide peptide receptor) is a G-protein coupled receptor gene located on chromosome 4q27. It encodes a receptor for the neuropeptide QRFP (also known as 26RFa), which is involved in the regulation of energy homeostasis, feeding behavior, and neuroendocrine functions. The receptor is primarily expressed in the brain and peripheral tissues such as the pituitary and adrenal glands. QRFPR signaling is mediated through Gq/11 proteins, leading to intracellular calcium mobilization and activation of downstream pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | QRFPR signaling modulates appetite and energy expenditure; dysregulation may contribute to obesity | PMID: 16959974 |
| Type 2 Diabetes | Altered QRFPR expression in pancreatic islets may affect insulin secretion | PMID: 20068046 |
| Neuroendocrine tumors | QRFPR overexpression observed in certain pituitary adenomas | PMID: 21753078 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 2.3 | Low |
| Pituitary gland | 4.1 | Medium |
| Adrenal gland | 3.8 | Medium |
| Testis | 1.5 | Low |
| Pancreas | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 3.2 | Neuronal model |
| HEK293 (embryonic kidney) | 1.1 | Low endogenous expression |
| HPAF-II (pancreatic) | 2.5 | Pancreatic cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | <0.01% | Unknown functional effect |
| c.457G>A (p.Val153Met) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in QRFPR.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in QRFPR.
Dominant Negative (DN)
No dominant-negative mutations reported for QRFPR.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GPCR downstream signaling (Gq/11-mediated)
• Neuropeptide signaling pathway (QRFP/26RFa)
Protein Summary
The QRFPR protein (UniProt Q96P65) is a 377-amino acid G-protein coupled receptor with seven transmembrane domains. It binds the endogenous ligand QRFP (26RFa) with high affinity, activating Gq/11 proteins to increase intracellular calcium. The receptor is involved in energy homeostasis, appetite regulation, and neuroendocrine function. Expression is highest in the brain, pituitary, and adrenal glands. No major disease-causing mutations have been identified, but altered expression is linked to obesity and diabetes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| QRFPR Knockout HEK293 Cell Line | EDJ-KQ9986 | Human | 84109 | Details Get a Quote |
| QRFPR Knockout HeLa Cell Line | EDJ-KQ57537 | Human | 84109 | Details Get a Quote |
| QRFPR Knockout A-549 Cell Line | EDJ-KQ66035 | Human | 84109 | Details Get a Quote |
| QRFPR Knockout HCT 116 Cell Line | EDJ-KQ74459 | Human | 84109 | Details Get a Quote |
