FSHR (Follicle Stimulating Hormone Receptor)
A G protein-coupled receptor critical for reproductive function and implicated in ovarian disorders and infertility.
Gene Information Card
| Symbol | FSHR |
|---|---|
| Full Name | follicle stimulating hormone receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 2p16.3 |
| NCBI Gene ID | 2492 ncbi.nlm.nih.gov/gene/2492 |
| Ensembl ID | ENSG00000170820 |
| UniProt ID | P23945 |
| OMIM ID | 136435 |
| HGNC ID | 3969 |
| Aliases | FSHR, LGR1, ODG1, FSHRO, FSHR1 |
Description
The FSHR gene encodes the follicle stimulating hormone receptor, a member of the G protein-coupled receptor family. This receptor is primarily expressed in the gonads and mediates the action of follicle stimulating hormone (FSH), which is essential for gametogenesis and steroidogenesis. Mutations in FSHR can lead to ovarian dysgenesis, premature ovarian failure, and ovarian hyperstimulation syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian hyperstimulation syndrome (OHSS) | Gain-of-function mutations in FSHR increase sensitivity to FSH, leading to exaggerated ovarian response. | ClinVar, OMIM |
| Premature ovarian failure 1 (POF1) | Loss-of-function mutations impair FSH signaling, resulting in ovarian resistance and early menopause. | OMIM, NCBI |
| Ovarian dysgenesis 1 | Homozygous inactivating mutations cause streak gonads and primary amenorrhea. | OMIM, HGNC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | High |
| Testis | 3.2 | Medium |
| Adrenal gland | 0.8 | Low |
| Thyroid | 0.5 | Low |
| Uterus | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| KGN (ovarian granulosa-like) | 15.0 | High expression; model for FSHR signaling |
| OVCAR-3 (ovarian cancer) | 2.1 | Moderate expression |
| HEK293 (embryonic kidney) | 0.1 | Low endogenous; used for recombinant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.566C>T (p.Ala189Val) | Missense | Rare | Loss-of-function; associated with ovarian dysgenesis |
| c.1255G>A (p.Asp419Asn) | Missense | Rare | Gain-of-function; linked to OHSS |
| c.2039G>A (p.Arg680His) | Missense | Rare | Loss-of-function; causes POF1 |
Mutation functional classification
Loss of Function (LOF)
Inactivating mutations (e.g., p.Ala189Val) disrupt receptor trafficking or ligand binding, leading to FSH resistance and ovarian failure.
Gain of Function (GOF)
Activating mutations (e.g., p.Asp419Asn) increase constitutive or FSH-stimulated cAMP production, predisposing to OHSS.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported in FSHR.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • follicle-stimulating hormone receptor activity |
| • signal transduction | • G protein-coupled receptor signaling pathway |
| • cell surface receptor signaling pathway | • ovarian follicle development |
| • spermatogenesis |
Pathways
• GPCR downstream signaling
• FSH signaling pathway
• Ovarian steroidogenesis
Protein Summary
The FSHR protein is a 695-amino acid glycoprotein with a large extracellular domain responsible for FSH binding, seven transmembrane domains, and an intracellular C-terminus that couples to Gs proteins. Upon FSH binding, it activates adenylate cyclase, increasing cAMP and downstream signaling cascades that regulate folliculogenesis, steroidogenesis, and Sertoli cell function in males.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FSHR Knockout HEK293 Cell Line | EDJ-KQ1776 | Human | 2492 | Details Get a Quote |
| FSHR Knockout HeLa Cell Line | EDJ-KQ53269 | Human | 2492 | Details Get a Quote |
| FSHR Knockout A-549 Cell Line | EDJ-KQ61752 | Human | 2492 | Details Get a Quote |
| FSHR Knockout HCT 116 Cell Line | EDJ-KQ70236 | Human | 2492 | Details Get a Quote |
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