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FSHR

Chr 2p16.3

follicle stimulating hormone receptor

Aliases:
FSHRO, LGR1
MANE:
ENST00000406846.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary ovarian insufficiency

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • 46,XX gonadal dysgenesis

    0.77
  • ovarian hyperstimulation syndrome

    0.75
  • Infertility

    0.59
  • hypogonadotropic hypogonadism

    0.56
  • anovulation

    0.55
  • primary ovarian failure

    0.55
  • female infertility

    0.55
  • infertility disorder

    0.53
  • hypogonadism

    0.50
  • genetic non-acquired premature ovarian failure

    0.50

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

Protein function (UniProt)

Follicle-stimulating hormone receptor

G protein-coupled receptor for follitropin, the follicle-stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690)

Curated MONDO disease pages that list FSHR 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.