GPR42
G Protein-Coupled Receptor 42
Gene Information Card
| Symbol | GPR42 |
|---|---|
| Full Name | G protein-coupled receptor 42 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 2866 ncbi.nlm.nih.gov/gene/2866 |
| Ensembl ID | ENSG00000130589 |
| UniProt ID | O15529 |
| OMIM ID | 604039 |
| HGNC ID | 4489 |
| Aliases | GPR42P, GPR42L |
Description
GPR42 (G protein-coupled receptor 42) is a protein-coding gene located on chromosome 19q13.33. It encodes a member of the G protein-coupled receptor family, which are integral membrane proteins involved in signal transduction. The gene is closely related to the olfactory receptor family and is considered a pseudogene in some populations due to a frameshift mutation, though functional variants exist.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Muscle | 0.0 | Not detected |
| Pancreas | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Thyroid | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No data available | N/A | No expression data in cell lines from GTEx or Human Protein Atlas |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3749971 | frameshift | 0.5 (global) | Introduces premature stop codon; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
The rs3749971 frameshift variant introduces a premature stop codon, resulting in a truncated non-functional protein in many individuals.
Gain of Function (GOF)
No evidence of gain-of-function variants.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • signal transduction |
| • integral component of membrane |
Pathways
• GPCR downstream signaling
Protein Summary
The GPR42 protein is a predicted G protein-coupled receptor with 7 transmembrane domains. Due to a common frameshift polymorphism (rs3749971), many individuals carry a pseudogene allele that produces a truncated protein. The functional significance of the full-length receptor remains unclear, and no endogenous ligand has been identified.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPR42 Knockout HEK293 Cell Line | EDJ-KQ4788 | Human | 2866 | Details Get a Quote |
Displaying Records 1 To 1 Of 1 Records
