FSHR follicle stimulating hormone receptor
Gene ID: 2492, updated on 5-Mar-2024Gene type: protein coding
Also known as: LGR1; ODG1; FSHR1; FSHRO
- See all available tests in GTR for this gene
- Go to complete Gene record for FSHR
- Go to Variation Viewer for FSHR variants
Summary
The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Dizygotic twins | See labs |
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. GeneReviews: Not available | |
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. GeneReviews: Not available | |
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. GeneReviews: Not available | |
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. GeneReviews: Not available | |
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. GeneReviews: Not available | |
Ovarian dysgenesis 1 | See labs |
Ovarian hyperstimulation syndrome | See labs |
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines. GeneReviews: Not available |
Genomic context
- Location:
- 2p16.3
- Sequence:
- Chromosome: 2; NC_000002.12 (48962157..49154515, complement)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for FSHR variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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