GNRHR Chromosome 4
Gonadotropin releasing hormone receptor
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What This Gene Does
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]
Gene Info
Gene Group
Gonadotropin releasing hormone receptors
Locus Type
gene with protein product
Location
4q13.2
Ensembl
ENSG00000109163
Associated Conditions (12)
Hypogonadotropic hypogonadism 7 with or without anosmia
GNRHR-related disorder
Inborn genetic diseases
Isolated GnRH Deficiency
See cases
Amenorrhea
Hypogonadotropic hypogonadism
Isolated congenital hypogonadotropic hypogonadism
Gonadotropin deficiency
Infertility disorder
Pituitary hormone deficiency
Delayed puberty
Key Variants
RS144451862
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 7 with or without anosmia, GNRHR-related disorder, Hypogonadotropic hypogonadism 7 with or without anosmia
Health Risk
RS144900788
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 7 with or without anosmia, GNRHR-related disorder, Hypogonadotropic hypogonadism 7 with or without anosmia
Health Risk
RS182531866
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
Health Risk
RS367560743
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
Health Risk
RS377457276
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 7 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 7 with or without anosmia
Health Risk
RS569763619
Conflicting classifications of pathogenicity
Health Risk
RS776834867
Conflicting classifications of pathogenicity
Isolated GnRH Deficiency, Hypogonadotropic hypogonadism 7 with or without anosmia, Isolated GnRH Deficiency
Health Risk
RS104893843
Likely pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia, Isolated GnRH Deficiency, Hypogonadotropic hypogonadism 7 with or without anosmia
Health Risk
RS1064793140
Likely pathogenic
Health Risk
RS1417516934
Likely pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
Health Risk
RS1490204113
Likely pathogenic
Health Risk
RS2109988131
Likely pathogenic
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144451862 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 7 with or without anosmia, GNRHR-related disorder, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS144900788 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 7 with or without anosmia, GNRHR-related disorder, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS182531866 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS367560743 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS377457276 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 7 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS569763619 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776834867 | Health Risk | Conflicting classifications of pathogenicity | Isolated GnRH Deficiency, Hypogonadotropic hypogonadism 7 with or without anosmia, Isolated GnRH Deficiency |
| RS104893843 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Isolated GnRH Deficiency, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS1064793140 | Health Risk | Likely pathogenic | — |
| RS1417516934 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS1490204113 | Health Risk | Likely pathogenic | — |
| RS2109988131 | Health Risk | Likely pathogenic | — |
| RS2475804777 | Health Risk | Likely pathogenic | See cases, See cases |
| RS28933074 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS104893838 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS104893839 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS104893840 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Amenorrhea, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS104893841 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS104893842 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS104893847 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS1057520762 | Health Risk | Pathogenic | — |
| RS1325732095 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS188272653 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS2475805410 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS369176613 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS515726220 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS557311093 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS606231406 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS74452732 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS797044452 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS104893836 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Isolated congenital hypogonadotropic hypogonadism, Gonadotropin deficiency |
| RS104893837 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Amenorrhea, Hypogonadotropic hypogonadism |
| RS104893844 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS1237982349 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS148499544 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS2475804586 | Health Risk | Pathogenic/Likely pathogenic | Isolated congenital hypogonadotropic hypogonadism, Isolated congenital hypogonadotropic hypogonadism |
| RS281865427 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS727505367 | Health Risk | Pathogenic/Likely pathogenic | Delayed puberty, Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty |
| RS753280668 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS763161932 | Health Risk | Pathogenic/Likely pathogenic | — |