GPR52
G Protein-Coupled Receptor 52
Gene Information Card
| Symbol | GPR52 |
|---|---|
| Full Name | G protein-coupled receptor 52 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.1 |
| NCBI Gene ID | 9293 ncbi.nlm.nih.gov/gene/9293 |
| Ensembl ID | ENSG00000143157 |
| UniProt ID | Q9Y2T5 |
| OMIM ID | 604107 |
| HGNC ID | 4518 |
| Aliases | GPCR52, GPR52_HUMAN |
Description
GPR52 is a class A orphan G protein-coupled receptor predominantly expressed in the brain, particularly in the striatum and cortex. It is coupled to both Gs and Gi/o proteins and has been implicated in neuropsychiatric disorders such as Huntington disease and schizophrenia. GPR52 is considered a potential therapeutic target due to its role in modulating cAMP signaling and dopamine receptor function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | Altered GPR52 expression in striatal neurons may contribute to motor and cognitive dysfunction; receptor activation modulates cAMP levels and neuronal survival. | PMID: 25977396; NCBI Gene |
| Schizophrenia | Genetic variants and altered GPR52 signaling have been associated with schizophrenia risk; receptor modulation affects dopamine D2 receptor signaling. | PMID: 27569544; ClinVar |
| Bipolar disorder | Potential involvement via cAMP pathway dysregulation; expression changes observed in postmortem brain studies. | PMID: 23453820 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cortex) | 12.5 | Medium |
| Brain (striatum) | 15.2 | Medium |
| Testis | 2.1 | Low |
| Liver | 0.8 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.3 | Neuroblastoma cell line |
| HEK293 | 1.2 | Low endogenous expression |
| U-87 MG | 0.9 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect; rare population variant |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Potential impact on receptor conformation |
| c.788A>G (p.Asn263Ser) | Missense | <0.01% | Located in transmembrane domain; functional significance unclear |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in GPR52.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in GPR52.
Dominant Negative (DN)
No dominant-negative mutations reported in GPR52.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • G protein-coupled receptor signaling pathway |
| • plasma membrane | • integral component of membrane |
| • cAMP-mediated signaling |
Pathways
• Gs signaling
• Gi/o signaling
• cAMP signaling pathway
Protein Summary
GPR52 is a 387-amino acid orphan GPCR with seven transmembrane domains. It is primarily expressed in the brain and signals through both Gs (stimulating cAMP) and Gi/o (inhibiting cAMP) pathways. The receptor is involved in regulating neuronal excitability and dopamine signaling, making it a target for neuropsychiatric drug development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPR52 Knockout HEK293 Cell Line | EDJ-KQ6535 | Human | 9293 | Details Get a Quote |
| GPR52 Knockout HeLa Cell Line | EDJ-KQ55123 | Human | 9293 | Details Get a Quote |
| GPR52 Knockout A-549 Cell Line | EDJ-KQ63602 | Human | 9293 | Details Get a Quote |
| GPR52 Knockout HCT 116 Cell Line | EDJ-KQ72067 | Human | 9293 | Details Get a Quote |
