RLN2

Chr 9

relaxin 2

Also known as: H2, H2-RLX, RLXH2, bA12D24.1.1, bA12D24.1.2

NCBI Gene: 6019 ENSG00000107014 UniProt: P04090 OMIM: 179740

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.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.91

LOEUF

Mechanism· predicted