RXFP2 Gene (Relaxin Family Peptide Receptor 2)
A G-protein coupled receptor for relaxin and INSL3, implicated in testicular descent and bone metabolism.
Gene Information Card
| Symbol | RXFP2 |
|---|---|
| Full Name | Relaxin Family Peptide Receptor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q13.1 |
| NCBI Gene ID | 122042 ncbi.nlm.nih.gov/gene/122042 |
| Ensembl ID | ENSG00000133105 |
| UniProt ID | Q9H1C8 |
| OMIM ID | 606655 |
| HGNC ID | 14018 |
| Aliases | LGR8, GREAT, GPR106, INSL3R |
Description
RXFP2 (Relaxin Family Peptide Receptor 2) encodes a G-protein coupled receptor that binds relaxin and insulin-like 3 (INSL3). It is essential for testicular descent during fetal development and modulates bone metabolism in adults. Mutations in RXFP2 are associated with cryptorchidism and may influence bone density.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cryptorchidism (undescended testis) | Loss-of-function mutations impair INSL3 signaling, disrupting gubernacular development and testicular descent. | ClinVar, OMIM #606655 |
| Osteoporosis (susceptibility) | Variants in RXFP2 may alter bone remodeling via relaxin/INSL3 signaling pathways. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 3.2 | Low |
| Kidney | 2.1 | Low |
| Prostate | 1.8 | Low |
| Ovary | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.8 | Low expression |
| K562 | 0.5 | Low expression |
| MCF7 | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.16G>A (p.Gly6Arg) | Missense | Rare | Loss of function; associated with cryptorchidism (ClinVar) |
| c.107T>C (p.Leu36Pro) | Missense | Rare | Impaired INSL3 binding; reported in cryptorchidism (OMIM) |
| c.121G>A (p.Gly41Arg) | Missense | Rare | Reduced receptor activation; linked to testicular maldescent (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly6Arg, p.Leu36Pro) impair INSL3 binding or receptor activation, leading to cryptorchidism.
Gain of Function (GOF)
No gain-of-function mutations reported in RXFP2.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Relaxin signaling pathway (Reactome: R-HSA-444473)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
RXFP2 is a 7-transmembrane G-protein coupled receptor (GPCR) of the leucine-rich repeat-containing family. It is activated by INSL3 and relaxin, leading to cAMP accumulation and downstream signaling. The receptor is critical for gubernacular development during fetal life and modulates osteoblast and osteoclast activity in bone.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RXFP2 Knockout HEK293 Cell Line | EDJ-KQ8137 | Human | 122042 | Details Get a Quote |
| RXFP2 Knockout HeLa Cell Line | EDJ-KQ58093 | Human | 122042 | Details Get a Quote |
| RXFP2 Knockout A-549 Cell Line | EDJ-KQ66581 | Human | 122042 | Details Get a Quote |
| RXFP2 Knockout HCT 116 Cell Line | EDJ-KQ74996 | Human | 122042 | Details Get a Quote |
