RLN2 Gene - Relaxin 2
Comprehensive gene card for RLN2, encoding the relaxin-2 peptide hormone involved in reproductive physiology and connective tissue remodeling.
Gene Information Card
| Symbol | RLN2 |
|---|---|
| Full Name | Relaxin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q24.1 |
| NCBI Gene ID | 6019 ncbi.nlm.nih.gov/gene/6019 |
| Ensembl ID | ENSG00000107014 |
| UniProt ID | P04090 |
| OMIM ID | 606710 |
| HGNC ID | 10027 |
| Aliases | H2, RLXH2, relaxin H2 |
Description
RLN2 encodes the preprorelaxin precursor, which is proteolytically processed to generate the mature relaxin-2 hormone. Relaxin-2 is a peptide hormone structurally related to insulin and insulin-like growth factors. It plays a critical role in reproductive physiology, including cervical ripening, uterine relaxation, and mammary gland development. RLN2 expression is primarily in the corpus luteum, decidua, and placenta, with lower levels in the prostate and heart. The hormone signals through the RXFP1 receptor to mediate vasodilation, tissue remodeling, and anti-fibrotic effects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Preterm labor | Altered RLN2 expression may disrupt cervical ripening and uterine quiescence, contributing to preterm birth. | ClinVar, PMID: 10677320 |
| Systemic sclerosis (scleroderma) | Elevated relaxin-2 levels are observed; exogenous relaxin has been investigated for anti-fibrotic therapy. | ClinVar, PMID: 14679187 |
| Pregnancy-induced hypertension | Dysregulation of relaxin-mediated vasodilation may contribute to hypertensive disorders of pregnancy. | ClinVar, PMID: 15601922 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Corpus luteum | >1000 | High |
| Decidua | >500 | High |
| Placenta | 100-500 | Medium |
| Prostate | 10-100 | Low |
| Heart | 1-10 | Very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.2 | No significant expression |
| K562 | 0.1 | No significant expression |
| MCF7 | 0.3 | No significant expression |
| Primary decidual cells | >500 | High expression (primary tissue) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152G>A (p.Arg51Gln) | Missense | Rare (MAF <0.01%) | Unknown functional impact; reported in ClinVar as uncertain significance |
| c.223C>T (p.Arg75Trp) | Missense | Rare (MAF <0.01%) | Uncertain significance; may affect receptor binding |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RLN2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity (GO:0005179) | • extracellular region (GO:0005576) |
| • extracellular space (GO:0005615) | • cell-cell signaling (GO:0007267) |
| • aging (GO:0007568) | • platelet activation (GO:0030168) |
| • response to drug (GO:0042493) | • positive regulation of vasodilation (GO:0045907) |
| • response to stimulus (GO:0050896) | • ventricular septum morphogenesis (GO:0060412) |
Pathways
• Relaxin signaling pathway (RXFP1 receptor)
• cAMP/PKA signaling cascade
• Nitric oxide synthase pathway (vasodilation)
• Matrix metalloproteinase (MMP) activation in tissue remodeling
Protein Summary
Relaxin-2 is a 6.3 kDa peptide hormone (185 amino acid precursor, 53 amino acid mature chain) with two chains (A and B) linked by disulfide bonds. It is synthesized as preprorelaxin, cleaved to prorelaxin, and finally processed to the active heterodimer. The mature hormone binds with high affinity to the RXFP1 receptor (leucine-rich repeat-containing G-protein coupled receptor 7). Relaxin-2 promotes collagen turnover, increases nitric oxide production, and inhibits fibrosis. It is essential for reproductive tract adaptations during pregnancy and has therapeutic potential in fibrotic diseases and heart failure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RLN2 Knockout HEK293 Cell Line | EDJ-KQ2960 | Human | 6019 | Details Get a Quote |
| RLN2 Knockout A-549 Cell Line | EDJ-KQ24108 | Human | 6019 | Details Get a Quote |
| RLN2 Knockout HCT 116 Cell Line | EDJ-KQ24109 | Human | 6019 | Details Get a Quote |
| RLN2 Knockout HeLa Cell Line | EDJ-KQ24110 | Human | 6019 | Details Get a Quote |
