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Gene Symbol |
FSHR |
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Aliases |
FSHR1, FSHRO, LGR1, ODG1 |
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Entrez Gene ID |
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Gene Name |
Follicle stimulating hormone receptor |
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Chromosomal Location |
2p16.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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SNPs
| SNP Id |
Upstream Sequence |
SNP |
Downstream Sequence |
Functional Significance |
References |
| rs6165 |
GGCAAGAAGTTGATTATATGACTCAG |
A/G |
CTAGGGGTCAGAGATCCTCTCTGGC |
A307T |
19403562 | |
| rs6166 |
CTGCTCTTCAGCTCCCAGAGTCACCA |
A/G |
TGGTTCCACTTACATACTTGTCCCT |
N680S |
19403562 | |
| rs11692782 |
GGACTGCAGGGCGCTCACGCTTGCTG |
C/T |
GAAGTAAGGCGTTTGAAGGTGAGGC |
Intron variant |
25649397 | |
| rs2268361 |
TTGTGGGACTTCAGAAGAGAGAAAGA |
C/T |
GTGGGCTGGACATCAAAGAAGGCCT |
Intron variant |
25904635 | |
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| Protein Information |
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Protein Name |
Follicle-stimulating hormone receptor, FSH receptor, follitropin receptor |
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Function |
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G protein-coupled receptor for follitropin, the follicle-stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000480004 |
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P07099 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| Gonadal Dysgenesis, 46,XX |
20087398, 19172541, 9020851, 11754099, 11889179, 12915623, 12571157, 9851774, 7553856, 10551778, 8855829, 20237833, 9769327 |
| Ovarian Hyperstimulation Syndrome |
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| PCOS |
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| Neoplasms |
| Prostate Carcinoma |
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| Ovarian Cancer |
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References |
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| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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rs7562215, rs10495960, rs13405728, rs35960650, rs2956355, and rs7562879 |
NIH criteria |
Direct
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905 women with PCOS, 956 control women |
Fine mapping of the chromosome 2p16.3 Chinese PCOS susceptibility locus in a European ancestry cohort provides evidence for association with two independent loci and PCOS. The gene products LHCGR and FSHR therefore are likely to be important in the etiology of PCOS, regardless of ethnicity |
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LHCGR, THADA, DENND1A, c9orf3, YAP1, RAB5B/SUOX, HMGA2, TOX3, INSR, SUMO1P1 |
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rs2268361,rs2349415 |
Rotterdam criteria |
Direct
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703 Dutch PCOS patients and 2164 Dutch controls |
This study identifies 12 genetic variants mapping to the Chinese PCOS loci similar effect size and identical direction in PCOS patients from Northern European ancestry, indicating a common genetic risk profile for PCOS across populations |
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Direct
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47 European subjects with PCOS and 845 controls |
Four of the PCOS susceptibility loci identified in the Chinese GWAS are associated with PCOS in Europeans |
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LHCGR, THADA, KHDRBS3, YAP1, RAB5B and TOX3 |
hyperandrogenemia, menstruation number/year and polycystic ovary morphology |
rs2268361 |
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Direct
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862 women with PCOS and 860 controls in the Korean population |
The GRS was higher in women with PCOS than in controls (8.8 versus 8.2, P < 0.01) and was significantly associated with PCOS after adjusting for age and BMI |
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