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LHCGR

Chr 2p16.3

luteinizing hormone/choriogonadotropin receptor

Aliases:
LHR, LCGR, LGR2, ULG5
MANE:
ENST00000294954.12

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Differences in sex development

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Hypogonadotropic hypogonadism

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Leydig cell hypoplasia, type 1

    0.78
  • familial male-limited precocious puberty

    0.74
  • female infertility

    0.56
  • peripheral precocious puberty

    0.56
  • Infertility

    0.53
  • infertility disorder

    0.53
  • anovulation

    0.49
  • Precocious puberty in males

    0.49
  • primary ovarian failure

    0.48
  • Abnormality of the skeletal system

    0.45

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

Protein function (UniProt)

Lutropin-choriogonadotropic hormone receptor

Receptor for lutropin-choriogonadotropic hormone (PubMed:11847099). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099)

Curated MONDO disease pages that list LHCGR 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.