RXFP2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RXFP2 (HGNC:17318) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
relaxin family peptide receptor 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LGR8
Alias symbols
GREAT, GPR106, INSL3R, RXFPR2
%HI
32.97(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.1(Read more about gnomAD LOEUF score)
Cytoband
13q13.1
Genomic Coordinates
GRCh37/hg19: chr13:32313663-32377526 NCBI Ensembl UCSC
GRCh38/hg38: chr13:31739526-31803389 NCBI Ensembl UCSC
MANE Select Transcript
NM_130806.5 ENST00000298386.7 (Read more about MANE Select)
Function
Receptor for relaxin. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. May also be a receptor for Leydig insulin-like peptide (INSL3). (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30768
ClinGen Curation ID:
CCID:007795
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Ferlin et al (2003) identified 3 missense mutations (P93L, R102C, and R102H) in RXFP2 in 4 patients with cryptorchidism; these mutations were not found in 80 controls or in a cohort of 150 noncryptorchid infertile men (PMID:12970298). Gorlov et al (2002) identified a T222P missense mutation in RXFP2 in 1 of 60 patients with cryptorchidism (PMID:12217959). In 2 related males (brothers) with Peters-plus syndrome and cryotorchidism, Lesnik Oberstein et al (2006) identified an interstitial deletion encompassing the RXFP2 gene at 13q12.3-q13.1 (PMID:16909395), but other genes were deleted in these patients. In mice, several mutations in RXFP2 have been reported to cause cryptorchidism (PMID:11353515, 22258617, 20963592). At this time, there is not enough evidence to definitively conclude that loss of function of RXFP2 is the causative mechanism (e.g. PMID:20636340).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000013.10) (NC_000013.11)