RLN2
relaxin 2
Summary
This gene encodes a member of the relaxin subfamily and insulin superfamily of peptide hormones. In humans there are three non-allelic relaxin genes. This gene encodes multiple protein isoforms, at least one of which undergoes proteolytic processing. This processing generates relaxin A and B chains that are linked by disulfide bonds to form the mature peptide hormone. This hormone plays a role in the male and female reproductive systems and was initially noted for its role in pregnancy. This protein also plays broader roles in the cardiovascular system, including in the regulation of blood pressure and control of heart rate, and data from animal models shows that this protein may have anti-fibrotic and cardioprotective effects. [provided by RefSeq, Jul 2016]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2130987811 | 9:5,300,174 | C/G | — | uncertain significance |
| rs2488689154 | 9:5,300,176 | C/G | — | uncertain significance |
| rs767650831 | 9:5,300,183 | C/G | — | uncertain significance |
| rs151289366 | 9:5,300,223 | G/A | — | uncertain significance |
| rs746901938 | 9:5,300,231 | T/C | — | uncertain significance |
| rs61738987 | 9:5,300,268 | T/C | — | benign |
| rs3174295 | 9:5,300,316 | G/C | — | uncertain significance |
| rs148022171 | 9:5,300,385 | C/G | — | uncertain significance |
| rs141747284 | 9:5,300,414 | G/A | — | uncertain significance |
| rs2488690081 | 9:5,300,423 | T/C | — | uncertain significance |
| rs188388492 | 9:5,300,437 | C/T | — | likely benign |
| rs750619608 | 9:5,304,384 | G/C | — | uncertain significance |
| rs1485048834 | 9:5,304,394 | G/C | — | uncertain significance |
| rs746620695 | 9:5,304,420 | T/A | — | uncertain significance |
| rs766776671 | 9:5,304,462 | A/G | — | uncertain significance |
| rs142573027 | 9:5,304,505 | A/T | — | uncertain significance |
| rs148550929 | 9:5,304,507 | T/G | — | likely benign |
| rs764578089 | 9:5,304,563 | A/C | — | likely benign |
| rs72703633 | 9:5,304,821 | T/C | 5 prime UTR variant | — |
| rs148056826 | 9:5,305,135 | T/A | upstream gene variant | — |
| rs3758239 | 9:5,306,824 | A/G | upstream gene variant | — |
| rs10975045 | 9:5,307,309 | A/G | upstream gene variant | — |
| rs4742076 | 9:5,309,831 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.