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.

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 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
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