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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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RXFP2
relaxin family peptide receptor 2
Chromosome 13 Β· 13q13.1
NCBI Gene: 122042Ensembl: ENSG00000133105.8HGNC: HGNC:17318UniProt: Q8WXD0
48PubMed Papers
21Diseases
1Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
hormone-mediated signaling pathwayG protein-coupled peptide receptor activityplasma membraneadenylate cyclase-activating G protein-coupled receptor signaling pathwaycryptorchidismInguinal herniacardiovascular diseaseheart failure
✦AI Summary

RXFP2 (relaxin family peptide receptor 2) is a G protein-coupled receptor that primarily binds insulin-like peptide 3 (INSL3) to regulate testicular development and male fertility 12. The receptor activates adenylyl cyclase signaling, leading to increased cAMP production upon INSL3 binding 34. RXFP2 plays a crucial role in testicular descent during embryonic development, with expression beginning at embryonic day 14.5 in mouse gubernacula and increasing after birth in cremaster muscle, epididymis, and testicular Leydig and germ cells 56. Beyond developmental functions, RXFP2 is essential for spermatogenesis, with highest expression observed during spermatid maturation stages 14. Biallelic loss-of-function variants in RXFP2 cause autosomal recessive bilateral cryptorchidism and male infertility due to spermatogenic arrest 12, while the well-characterized T222P mutation severely reduces cell membrane expression 5. RXFP2 has also been identified as a risk locus for primary aldosteronism, particularly in males with bilateral adrenal hyperplasia 78. The receptor's function can be disrupted by environmental pollutants, as mixtures of phthalates and bisphenol A reduce RXFP2 signaling responses 3.

Sources cited
1
RXFP2 biallelic variants cause bilateral cryptorchidism and male infertility through spermatogenic arrest at spermatid stage
PMID: 39222519
2
Biallelic loss-of-function variants in RXFP2 result in bilateral cryptorchidism and male infertility with autosomal recessive inheritance
PMID: 37208861
3
RXFP2 activates cAMP signaling and its function is disrupted by phthalates and BPA mixtures
PMID: 32126385
4
RXFP2 is expressed on human spermatozoa and INSL3 binding provides anti-apoptotic and antioxidant effects
PMID: 32557760
5
RXFP2 expression begins at E14.5 in gubernacula and T222P mutation severely decreases cell membrane expression
PMID: 19416188
6
RXFP2 expression increases after birth in epididymis, Leydig cells, and germ cells with strongest expression in cremaster muscle
PMID: 17615407
7
RXFP2 is identified as a risk locus for primary aldosteronism, particularly in males with bilateral adrenal hyperplasia
PMID: 36057693
8
RXFP2 is among genetic loci associated with primary aldosteronism risk in cross-ancestry genome-wide association studies
PMID: 39101507
Disease Associationsβ“˜21
cryptorchidismOpen Targets
0.56Moderate
Inguinal herniaOpen Targets
0.55Moderate
cardiovascular diseaseOpen Targets
0.43Moderate
heart failureOpen Targets
0.41Moderate
Increased blood pressureOpen Targets
0.40Weak
hypertensionOpen Targets
0.39Weak
essential hypertensionOpen Targets
0.37Weak
primary aldosteronismOpen Targets
0.36Weak
hyperaldosteronismOpen Targets
0.36Weak
retinopathyOpen Targets
0.33Weak
dyshidrosisOpen Targets
0.32Weak
ovarian neoplasmOpen Targets
0.32Weak
potassium deficiency diseaseOpen Targets
0.29Weak
atrial fibrillationOpen Targets
0.29Weak
Abnormality of metabolism/homeostasisOpen Targets
0.29Weak
benign neoplasm of adrenal glandOpen Targets
0.28Weak
adrenal gland hyperfunctionOpen Targets
0.25Weak
complicationOpen Targets
0.22Weak
adrenal gland diseaseOpen Targets
0.22Weak
hyperplasiaOpen Targets
0.21Weak
CryptorchidismUniProt
Pathogenic Variants2
NM_130806.5(RXFP2):c.1015A>G (p.Asn339Asp)Likely pathogenic
Bilateral cryptorchidism
β˜…β˜†β˜†β˜†2023β†’ Residue 339
NM_130806.5(RXFP2):c.1406del (p.Phe469fs)Pathogenic
Bilateral cryptorchidism
β˜…β˜†β˜†β˜†2023β†’ Residue 469
View on ClinVar β†—
Drug Targets1
SERELAXINApproved
Relaxin receptor 2 activator
cardiovascular disease
Related Genes
RLN1Protein interaction99%RLN2Protein interaction99%INSL5Protein interaction99%RXFP3Protein interaction99%RLN3Protein interaction99%RXFP4Protein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
13%
Heart
0%
Brain
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
RXFP2RLN1RLN2INSL5RXFP3RLN3RXFP4
PROTEIN STRUCTURE
Preparing viewer…
PDB2M96 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.63–1.09]
RankingsWhere RXFP2 stands among ~20K protein-coding genes
  • #9,125of 20,598
    Most Researched48
  • #1,003of 1,025
    FDA-Approved Drug Targets1
  • #4,444of 5,498
    Most Pathogenic Variants2
  • #11,166of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedRXFP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.
PMID: 39222519
Hum Reprod Β· 2024
1.00
2
INSL3/RXFP2 signaling in testicular descent.
PMID: 19416188
Ann N Y Acad Sci Β· 2009
0.90
3
Identification of risk loci for primary aldosteronism in genome-wide association studies.
PMID: 36057693
Nat Commun Β· 2022
0.80
4
Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.
PMID: 37208861
Hum Reprod Β· 2023
0.70
5
Human amniotic fluid-based exposure levels of phthalates and bisphenol A mixture reduce INSL3/RXFP2 signaling.
PMID: 32126385
Environ Int Β· 2020
0.60