GNRHR

Chr 4

gonadotropin releasing hormone receptor

Also known as: GNRHR1, GRHR, HH7, LHRHR, LRHR

NCBI Gene: 2798ENSG00000109163UniProt: P30968

This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypogonadotropic hypogonadism 7 with or without anosmia

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
65
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — GNRHR
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.75LOEUF
pLI 0.068
Z-score 2.18
OE 0.33 (0.16–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.30Z-score
OE missense 0.93 (0.82–1.07)
155 obs / 165.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.33 (0.16–0.75)
0≤0.351.4
Missense OE?0.93 (0.82–1.07)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 4 / 12.2Missense obs/exp: 155 / 165.9Syn Z: -0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GNRHR · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients