RXFP1

Chr 4

relaxin family peptide receptor 1

Also known as: LGR7, RXFPR1

This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…
0
Active trials
35
Pubs (1 yr)
P/LP submissions
P/LP missense
0.90
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.90LOEUF
pLI 0.000
Z-score 2.08
OE 0.64 (0.470.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.12Z-score
OE missense 0.84 (0.770.92)
329 obs / 391.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.470.90)
00.351.4
Missense OE?0.84 (0.770.92)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 25 / 39.0Missense obs/exp: 329 / 391.4Syn Z: 1.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RXFP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →