GPR50: G Protein-Coupled Receptor 50
Orphan receptor involved in circadian rhythm, metabolism, and neuropsychiatric disorders
Gene Information Card
| Symbol | GPR50 |
|---|---|
| Full Name | G protein-coupled receptor 50 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 9248 ncbi.nlm.nih.gov/gene/9248 |
| Ensembl ID | ENSG00000102144 |
| UniProt ID | Q13585 |
| OMIM ID | 300207 |
| HGNC ID | 4516 |
| Aliases | H9A, MGC138237 |
Description
GPR50 (G protein-coupled receptor 50) is an orphan receptor belonging to the melatonin receptor subfamily. It is predominantly expressed in the pituitary gland and hypothalamus, where it modulates circadian rhythms, energy metabolism, and neuroendocrine signaling. GPR50 can heterodimerize with MT1 and MT2 melatonin receptors, altering their function. Genetic variants in GPR50 have been associated with bipolar disorder, major depressive disorder, and metabolic traits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | GPR50 variants may alter receptor dimerization with melatonin receptors, disrupting circadian entrainment and mood regulation. | PMID: 15806177, ClinVar |
| Major depressive disorder | Single nucleotide polymorphisms in GPR50 are linked to increased risk, possibly through impaired melatonin signaling. | PMID: 17668387 |
| Metabolic syndrome | GPR50 knockout mice show increased body weight and insulin resistance; human variants associate with obesity. | PMID: 18256312 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary gland | 12.5 | Medium |
| Hypothalamus | 8.3 | Medium |
| Adrenal gland | 4.1 | Low |
| Testis | 2.7 | Low |
| Cerebellum | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 3.2 | Neuroblastoma cell line |
| HEK293 | 1.8 | Embryonic kidney cells |
| MCF7 | 0.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2072621 | SNP (C/T) | 0.25 (T allele) | Associated with altered GPR50 expression and bipolar disorder risk |
| rs13440581 | SNP (A/G) | 0.18 (G allele) | Linked to major depressive disorder |
| c.100C>T | Missense (p.Arg34Cys) | Rare | Potential loss of function; found in psychiatric cohorts |
Mutation functional classification
Loss of Function (LOF)
p.Arg34Cys may impair receptor trafficking or signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • melatonin receptor activity |
| • protein heterodimerization activity | • plasma membrane |
| • integral component of membrane | • signal transduction |
| • circadian rhythm | • negative regulation of adenylate cyclase activity |
Pathways
• Melatonin signaling pathway
• GPCR downstream signaling
• Circadian entrainment
Protein Summary
GPR50 is a 617-amino acid orphan GPCR with a long C-terminal tail unique among melatonin receptors. It is expressed mainly in the pituitary and hypothalamus. The protein can form heterodimers with MT1 and MT2 melatonin receptors, inhibiting their function. GPR50 is implicated in circadian rhythm regulation, energy balance, and mood disorders. Its endogenous ligand remains unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPR50 Knockout HEK293T Cell Line | EDJ-KQ162 | Human | 9248 | Details Get a Quote |
| GPR50 Knockout HEK293 Cell Line | EDJ-KQ13656 | Human | 9248 | Details Get a Quote |
| GPR50 Knockout HeLa Cell Line | EDJ-KQ55113 | Human | 9248 | Details Get a Quote |
| GPR50 Knockout A-549 Cell Line | EDJ-KQ63592 | Human | 9248 | Details Get a Quote |
| GPR50 Knockout HCT 116 Cell Line | EDJ-KQ72058 | Human | 9248 | Details Get a Quote |
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