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GNRHR

Chr 4q13.2

gonadotropin releasing hormone receptor

Aliases:
LHRHR
MANE:
ENST00000226413.5
OMIM: 138850 ↗NCBI: 2798 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hypogonadotropic hypogonadism

    BIALLELIC, autosomal or pseudoautosomal

  • Hypogonadotropic hypogonadism (GMS)

    BIALLELIC, autosomal or pseudoautosomal

  • Pituitary hormone deficiency

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypogonadotropic hypogonadism

    0.83

  • prostate cancer

    0.61

  • endometriosis

    0.59

  • prostate carcinoma

    0.59

  • breast cancer

    0.58

  • neoplasm

    0.58

  • Uterine leiomyoma

    0.56

  • precocious puberty

    0.56

  • uterine corpus leiomyoma

    0.56

  • central precocious puberty

    0.52

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Gonadotropin-releasing hormone receptor

Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling

Diseases associated with GNRHR

Curated MONDO disease pages that list GNRHR among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.