Gene
FSHR
follicle stimulating hormone receptor
- HGNC 3969(opens in a new tab)
- Ensembl gene ENSG00000170820(opens in a new tab)
- NCBI Gene 2492(opens in a new tab)
Summary
- Cytogenetic location
- 2p16.3
- Coordinates
- Chromosome 2: 48,962,157–49,154,515 (GRCh38)
- Exons
- 10 exons across 192.4 kb
- Protein
- 695 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- FSHRO, LGR1
- Previous symbols
- ODG1
- MANE Select transcript
- ENST00000406846.7NM_000145.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Female Infertility
Diminished or absent ability of a female to achieve conception.
- 2 GenCC submitters rate it definitive or strong
Polycystic Ovary Syndrome
- Ovarian Hyperstimulation SyndromeAutosomal dominant
A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.
- 2 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How FSHR is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.8 kb of the gene's 192.4 kb; 2,088 of those bases code for the protein.
How a genome test reads FSHR
8
positions in FSHR where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 192.4 kb of FSHR, introns included, not only the 2.8 kb of exons.
Traits linked to FSHR
The Human Phenotype Ontology lists these as features of the rare conditions FSHR can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). FSHR gene: follicle stimulating hormone receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/fshr
Dante Labs. FSHR gene: follicle stimulating hormone receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fshr
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