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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]
FSHR (Follicle Stimulating Hormone Receptor) is a Protein Coding gene. Diseases associated with FSHR include Ovarian Hyperstimulation Syndrome and Ovarian Dysgenesis 1. Among its related pathways are Signaling by GPCR and Transcription_CREM signaling in testis. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and G protein-coupled peptide receptor activity. An important paralog of this gene is LHCGR.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH02J049153 | Promoter/Enhancer | 0.9 | EPDnew Ensembl ENCODE | 600.7 | +0.2 | 156 | 2.4 | USF1 | FSHR piR-39858-353 ENSG00000282890 LHCGR | |
GH02J049002 | Enhancer | 0.4 | Ensembl ENCODE | 6.8 | +151.0 | 151028 | 1.8 | SPI1 | FSHR piR-37026-339 lnc-FSHR-1 ENSG00000282890 LHCGR | |
GH02J049132 | Enhancer | 0.2 | FANTOM5 | 1.7 | +21.4 | 21362 | 0.4 | piR-39858-353 FSHR piR-61580-360 ENSG00000282890 LHCGR | ||
GH02J049161 | Enhancer | 0.3 | ENCODE | 0.4 | -7.8 | -7833 | 0.8 | ATF2 | FSHR piR-60885-056 ENSG00000282890 | |
GH02J049251 | Enhancer | 0.7 | Ensembl ENCODE | 0.2 | -97.4 | -97358 | 0.6 | CEBPB NFE2 MAFF FOS MAFK MAFG NFE2L2 | RF00026-542 RNU6-439P piR-55194-189 FSHR ENSG00000282998 ENSG00000282890 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004930 | G protein-coupled receptor activity | IEA | -- |
GO:0004963 | follicle-stimulating hormone receptor activity | IEA,IMP | 11847099 |
GO:0005515 | protein binding | IPI | 15196694 |
GO:0008528 | G protein-coupled peptide receptor activity | IBA | 21873635 |
GO:0016500 | protein-hormone receptor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0009986 | cell surface | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors |
.34
|
|
2 | Signaling by GPCR | ||
3 | cAMP signaling pathway | ||
4 | Ovarian steroidogenesis | ||
5 | G alpha (s) signalling events |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001541 | ovarian follicle development | IEA | -- |
GO:0001545 | primary ovarian follicle growth | IEA | -- |
GO:0001932 | regulation of protein phosphorylation | IEA | -- |
GO:0003073 | regulation of systemic arterial blood pressure | IEA | -- |
GO:0007165 | signal transduction | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Urofollitropin | Approved, Vet_approved | Pharma | Target, agonist, binder | 0 | ||
Choriogonadotropin alfa | Approved | Pharma | Target, binder | 0 | ||
Corifollitropin alfa | Approved, Investigational | Pharma | Target, agonist | 0 | ||
Menotropins | Approved | Pharma | Target, binder | 119 | ||
Follitropin | Approved | Pharma | Target, agonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FSHR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FSHR 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FSHR 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fshr 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fshr 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FSHR 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | FSHR 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fshr 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | fshr-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fshr 30 31 |
|
OneToOne | |
Dr.24986 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12133 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Fsh 32 |
|
|
|
rk 32 |
|
|
|||
Lgr1 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | C50H2.1 32 |
|
|
|
fshr-1 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718987 | Likely Benign: not provided | 48,963,834(-) | C/T | SYNONYMOUS_VARIANT | |
721735 | Likely Benign: not provided | 49,068,234(-) | C/G | MISSENSE_VARIANT | |
741967 | Likely Benign: not provided | 48,963,141(-) | G/A | SYNONYMOUS_VARIANT | |
745991 | Likely Benign: not provided | 49,017,570(-) | A/G | INTRON_VARIANT | |
752789 | Likely Benign: not provided | 48,963,009(-) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
ovarian hyperstimulation syndrome |
|
|
ovarian dysgenesis 1 |
|
|
twinning, dizygotic |
|
|
amenorrhea |
|
|
46,xx sex reversal 1 |
|
|