RLN1

Chr 9

relaxin 1

Also known as: H1, H1RLX, RLXH1, bA12D24.3.1, bA12D24.3.2

Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.85
LOEUF
DN
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?
1.85LOEUF
pLI 0.007
Z-score 0.01
OE 0.99 (0.431.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.64Z-score
OE missense 1.46 (1.281.68)
146 obs / 99.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.99 (0.431.85)
00.351.4
Missense OE?1.46 (1.281.68)
00.61.4
Synonymous OE?1.17
01.21.6
LoF obs/exp: 3 / 3.0Missense obs/exp: 146 / 99.9Syn Z: -0.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RLN1 · 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.

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