VN1R2 Gene - Vomeronasal 1 Receptor 2
Genetic and functional insights into VN1R2, a vomeronasal-type chemosensory receptor with potential roles in pheromone signaling and human physiology.
Gene Information Card
| Symbol | VN1R2 |
|---|---|
| Full Name | Vomeronasal 1 receptor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 317701 ncbi.nlm.nih.gov/gene/317701 |
| Ensembl ID | ENSG00000205476 |
| UniProt ID | Q8NGY8 |
| OMIM ID | 611626 |
| HGNC ID | 23271 |
| Aliases | V1RL2, V1r2, VN1R2P |
Description
VN1R2 encodes a member of the vomeronasal type 1 receptor family, which are G-protein coupled receptors primarily involved in pheromone detection in the vomeronasal organ. In humans, the vomeronasal organ is vestigial, but VN1R2 is expressed in certain tissues and may have non-chemosensory functions. The gene is located on chromosome 19q13.42 and is part of a cluster of vomeronasal receptor genes. VN1R2 is a pseudogene in some individuals due to a frameshift mutation, but the reference allele encodes a functional receptor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established; VN1R2 is not currently linked to any Mendelian disorder in OMIM or ClinVar. | No direct evidence from OMIM or ClinVar; limited functional studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available (nTPM not reported) | Low expression in testis (based on RNA-seq data from GTEx, but not quantified as nTPM) |
| Kidney | Not available | Low expression in kidney (GTEx) |
| Liver | Not available | Low expression in liver (GTEx) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No cell line data available | Not reported | No expression data in common cell lines from Human Protein Atlas or CCLE. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs61740334 (frameshift) | Frameshift variant | Allele frequency ~0.3% (gnomAD) | Creates a premature stop codon; results in a truncated non-functional protein in homozygous carriers. |
| rs149196839 (missense) | Missense variant | Allele frequency <0.1% | Unknown effect; predicted benign by in silico tools. |
Mutation functional classification
Loss of Function (LOF)
The frameshift variant rs61740334 causes loss of function by truncating the protein, leading to a non-functional receptor.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects; VN1R2 is not known to dimerize with other receptors.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • pheromone binding |
| • signal transduction | • plasma membrane |
Pathways
• G alpha i signaling pathway (inferred from GPCR activity)
• Pheromone signaling (inferred from vomeronasal receptor family)
Protein Summary
VN1R2 is a 7-transmembrane G-protein coupled receptor (GPCR) of the vomeronasal type 1 family. In humans, it is expressed at low levels in non-chemosensory tissues such as testis, kidney, and liver, suggesting a possible role in reproductive or metabolic processes. The protein is predicted to localize to the plasma membrane and may couple to G proteins for signal transduction. However, due to the vestigial nature of the human vomeronasal organ, its physiological relevance remains unclear. The receptor is a pseudogene in a small percentage of individuals, indicating that it is not essential for survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VN1R2 Knockout HEK293 Cell Line | EDJ-KQ8884 | Human | 317701 | Details Get a Quote |
| VN1R2 Knockout HeLa Cell Line | EDJ-KQ59568 | Human | 317701 | Details Get a Quote |
| VN1R2 Knockout A-549 Cell Line | EDJ-KQ68033 | Human | 317701 | Details Get a Quote |
| VN1R2 Knockout HCT 116 Cell Line | EDJ-KQ76413 | Human | 317701 | Details Get a Quote |
