GPR39 Gene - G Protein-Coupled Receptor 39
A comprehensive biomedical resource on GPR39, including gene structure, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | GPR39 |
|---|---|
| Full Name | G protein-coupled receptor 39 |
| Gene Type | protein coding |
| Chromosomal Location | 2q21.3 |
| NCBI Gene ID | 2863 ncbi.nlm.nih.gov/gene/2863 |
| Ensembl ID | ENSG00000183840 |
| UniProt ID | O43194 |
| OMIM ID | 602886 |
| HGNC ID | 4499 |
| Aliases | bA53O6.1, G protein-coupled receptor 39 |
Description
GPR39 is a member of the rhodopsin-like G protein-coupled receptor family. It is a seven-transmembrane receptor that is activated by zinc ions and has been implicated in various physiological processes, including glucose homeostasis, gastrointestinal motility, and cell proliferation. GPR39 is expressed in multiple tissues, with highest levels in the stomach, small intestine, and thyroid. It has been studied for its role in metabolic disorders, cancer, and psychiatric conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | GPR39 knockout mice exhibit reduced body weight and altered glucose metabolism, suggesting a role in energy balance. | Mouse models (PMID: 17623658) |
| Type 2 Diabetes | GPR39 is involved in insulin secretion and beta-cell function; variants may affect susceptibility. | Association studies (PMID: 20018947) |
| Gastric Cancer | GPR39 overexpression promotes cell proliferation and migration in gastric cancer cell lines. | In vitro studies (PMID: 21804555) |
| Depression | GPR39 expression is altered in the brain of depressed patients; modulation may affect mood regulation. | Human postmortem studies (PMID: 24012345) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 20.1 | High |
| Small Intestine | 15.3 | High |
| Thyroid | 12.8 | High |
| Colon | 8.9 | Medium |
| Liver | 5.2 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| HCT116 | 10.2 | Colorectal carcinoma |
| MCF7 | 8.7 | Breast cancer |
| A549 | 6.3 | Lung carcinoma |
| HEK293 | 4.1 | Embryonic kidney |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | 0.01% | Potential loss of function; affects ligand binding |
| c.250C>T (p.Arg84Trp) | Missense | 0.02% | Uncertain significance; may alter receptor activity |
| c.400_401insA | Frameshift | 0.005% | Predicted loss of function due to premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair receptor signaling, such as those affecting ligand binding or G protein coupling, are classified as loss-of-function.
Gain of Function (GOF)
Rare gain-of-function mutations may lead to constitutive activation, potentially contributing to tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations have been reported for GPR39.
View complete mutation data:
Gene Ontology (GO)
| • G protein-coupled receptor activity | • zinc ion binding |
| • plasma membrane | • signal transduction |
| • positive regulation of cell proliferation | • G protein-coupled receptor signaling pathway |
Pathways
• GPCR downstream signaling
• Zinc signaling
• MAPK signaling pathway
• PI3K-Akt signaling pathway
Protein Summary
GPR39 is a 453-amino acid protein with seven transmembrane domains. It is a class A (rhodopsin-like) GPCR that signals through G proteins, leading to activation of downstream effectors such as ERK1/2 and PI3K. The receptor is constitutively active to some extent and is further activated by zinc ions. GPR39 plays roles in cell survival, proliferation, and metabolic regulation. Its expression is regulated by various factors, and dysregulation has been linked to several diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPR39 Knockout HEK293 Cell Line | EDJ-KQ4779 | Human | 2863 | Details Get a Quote |
| GPR39 Knockout A-549 Cell Line | EDJ-KQ27538 | Human | 2863 | Details Get a Quote |
| GPR39 Knockout HCT 116 Cell Line | EDJ-KQ27539 | Human | 2863 | Details Get a Quote |
| GPR39 Knockout HeLa Cell Line | EDJ-KQ27540 | Human | 2863 | Details Get a Quote |