RLN2
Chr 9relaxin 2
Also known as: H2, H2-RLX, RLXH2, bA12D24.1.1, bA12D24.1.2
This gene encodes relaxin, a peptide hormone that promotes dilatation of the birth canal and remodeling of connective tissues during pregnancy, and also regulates cardiovascular function including blood pressure and heart rate. The gene shows low constraint to loss-of-function variation (pLI 0.0009, LOEUF 1.905), and no pediatric neurological disorders have been definitively associated with RLN2 mutations in current medical literature. Based on available data, this gene does not appear to be relevant for pediatric neurogenetics practice.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RLN2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools