LHCGR Gene - Luteinizing Hormone/Choriogonadotropin Receptor
Key regulator of gonadal function and sex hormone production
Gene Information Card
| Symbol | LHCGR |
|---|---|
| Full Name | Luteinizing Hormone/Choriogonadotropin Receptor |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.3 |
| NCBI Gene ID | 3973 ncbi.nlm.nih.gov/gene/3973 |
| Ensembl ID | ENSG00000138031 |
| UniProt ID | P22888 |
| OMIM ID | 152790 |
| HGNC ID | 6585 |
| Aliases | LHR, LHCGR, LH/CG-R, LGR2, LCGR, LHCGR1 |
Description
The LHCGR gene encodes the luteinizing hormone/choriogonadotropin receptor, a G protein-coupled receptor that binds luteinizing hormone (LH) and human chorionic gonadotropin (hCG). This receptor is primarily expressed in the gonads (ovaries and testes) and plays a critical role in reproductive function by stimulating steroidogenesis and gametogenesis. Mutations in LHCGR can lead to disorders of sexual development and fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leydig cell hypoplasia | Loss-of-function mutations impair LH/hCG signaling, reducing testosterone production in males | OMIM #238320 |
| Familial male-limited precocious puberty | Gain-of-function mutations cause constitutive activation of the receptor, leading to early testosterone production | OMIM #176410 |
| Ovarian hyperstimulation syndrome | Gain-of-function mutations in females can cause spontaneous ovarian hyperstimulation | OMIM #608115 |
| Male infertility | Loss-of-function mutations disrupt spermatogenesis and testosterone production | ClinVar |
| Female infertility | Loss-of-function mutations impair ovulation and luteinization | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Ovary | 8.3 | Medium |
| Adrenal gland | 1.2 | Low |
| Placenta | 0.8 | Low |
| Thyroid | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Leydig cells (testis) | 45.2 | Primary site of expression |
| Granulosa cells (ovary) | 32.1 | Primary site of expression |
| Theca cells (ovary) | 28.7 | High expression |
| HEK293 | 0.1 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.545A>G (p.Asp182Gly) | Missense | Rare | Loss of function - Leydig cell hypoplasia |
| c.1733G>A (p.Arg578His) | Missense | Rare | Gain of function - precocious puberty |
| c.1222C>T (p.Arg408Cys) | Missense | Rare | Loss of function - male infertility |
| c.935G>A (p.Arg312Gln) | Missense | Rare | Gain of function - ovarian hyperstimulation |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or eliminate receptor signaling, leading to Leydig cell hypoplasia, male pseudohermaphroditism, and infertility.
Gain of Function (GOF)
Mutations that cause constitutive activation of the receptor, resulting in familial male-limited precocious puberty or ovarian hyperstimulation syndrome.
Dominant Negative (DN)
Not commonly reported; most mutations are recessive or dominant gain-of-function.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • luteinizing hormone receptor activity |
| • choriogonadotropin receptor activity | • signal transduction |
| • steroid hormone biosynthesis | • cell surface receptor signaling pathway |
| • adenylate cyclase-activating G protein-coupled receptor signaling pathway |
Pathways
• GPCR downstream signaling
• Steroidogenesis
• Reproductive hormone signaling
• cAMP signaling pathway
Protein Summary
The LHCGR protein is a 699-amino acid glycoprotein with a large extracellular N-terminal domain responsible for hormone binding, seven transmembrane domains, and a cytoplasmic C-terminal tail. It belongs to the rhodopsin-like G protein-coupled receptor family. Upon binding LH or hCG, the receptor activates Gs proteins, increasing cAMP levels and stimulating steroidogenesis. The protein is essential for normal sexual development and fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LHCGR Knockout HEK293 Cell Line | EDJ-KQ1593 | Human | 3973 | Details Get a Quote |
| LHCGR Knockout HeLa Cell Line | EDJ-KQ53793 | Human | 3973 | Details Get a Quote |
| LHCGR Knockout A-549 Cell Line | EDJ-KQ62270 | Human | 3973 | Details Get a Quote |
| LHCGR Knockout HCT 116 Cell Line | EDJ-KQ70755 | Human | 3973 | Details Get a Quote |
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