RXFP2 Chromosome 13
Relaxin family peptide receptor 2
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What This Gene Does
This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Relaxin family peptide receptors
Locus Type
gene with protein product
Location
13q13.1
Ensembl
ENSG00000133105
Associated Conditions (2)
Cryptorchidism
Bilateral cryptorchidism
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918303 | Health Risk | Conflicting classifications of pathogenicity | Cryptorchidism, Cryptorchidism |
| RS2500579479 | Health Risk | Likely pathogenic | Bilateral cryptorchidism, Bilateral cryptorchidism |
| RS2500590568 | Health Risk | Pathogenic | Bilateral cryptorchidism, Bilateral cryptorchidism |