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] See more...

Aliases for FSHR Gene

Aliases for FSHR Gene

  • Follicle Stimulating Hormone Receptor 2 3 5
  • LGR1 2 3 4
  • Follicle-Stimulating Hormone Receptor 3 4
  • Follitropin Receptor 3 4
  • FSHRO 2 3
  • FSH Receptor 3
  • FSHR1 3
  • FSH-R 4
  • ODG1 3
  • FSHR 5

External Ids for FSHR Gene

Previous HGNC Symbols for FSHR Gene

  • ODG1

Previous GeneCards Identifiers for FSHR Gene

  • GC02M049220
  • GC02M049358
  • GC02M049164
  • GC02M049101
  • GC02M049189
  • GC02M048923
  • GC02M048962
  • GC02M048866

Summaries for FSHR Gene

Entrez Gene Summary for FSHR Gene

  • 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]

GeneCards Summary for FSHR Gene

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 Peptide ligand-binding receptors and Signaling by GPCR. 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.

UniProtKB/Swiss-Prot Summary for FSHR Gene

  • 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 (PubMed:24058690).

Gene Wiki entry for FSHR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FSHR Gene

Genomics for FSHR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FSHR Gene
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 0.8 EPDnew Ensembl ENCODE 250.7 +0.4 350 2.8 USF1 FSHR piR-39858-353 HSALNG0014830-001 ENSG00000282890 LHCGR
GH02J049002 Enhancer 0.3 Ensembl ENCODE 6.8 +151.4 151419 1 FSHR piR-37026-339 HSALNG0014838 ENSG00000282890 HSALNG0014830-001 LHCGR
GH02J049132 Enhancer 0.2 FANTOM5 1.7 +21.4 21362 0.4 piR-39858-353 FSHR piR-61580-360 ENSG00000282890 HSALNG0014830-001 LHCGR
GH02J049161 Enhancer 0.3 ENCODE 0.4 -7.8 -7833 0.8 ATF2 FSHR piR-60885-056 ENSG00000282890 HSALNG0014830-001
GH02J049176 Enhancer 0.3 Ensembl 0.4 -22.6 -22574 0.6 NANOG piR-60885-056 FSHR ENSG00000282890 HSALNG0014830-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FSHR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FSHR

Top Transcription factor binding sites by QIAGEN in the FSHR gene promoter:
  • ATF
  • FOXO1
  • FOXO1a
  • POU3F2

Genomic Locations for FSHR Gene

Latest Assembly
chr2:48,953,161-49,154,527
(GRCh38/hg38)
Size:
201,367 bases
Orientation:
Minus strand

Previous Assembly
chr2:49,189,296-49,381,654
(GRCh37/hg19 by Entrez Gene)
Size:
192,359 bases
Orientation:
Minus strand

chr2:49,189,296-49,381,676
(GRCh37/hg19 by Ensembl)
Size:
192,381 bases
Orientation:
Minus strand

Genomic View for FSHR Gene

Genes around FSHR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSHR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FSHR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSHR Gene

Proteins for FSHR Gene

  • Protein details for FSHR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23945-FSHR_HUMAN
    Recommended name:
    Follicle-stimulating hormone receptor
    Protein Accession:
    P23945
    Secondary Accessions:
    • A0A0A0MSC5
    • A8K947
    • G5CBS7
    • G5E967
    • J3KQ00
    • Q05AH0
    • Q16225
    • Q4QRJ3
    • Q4ZFZ2
    • Q53RW2

    Protein attributes for FSHR Gene

    Size:
    695 amino acids
    Molecular mass:
    78265 Da
    Quaternary structure:
    • Homotrimer. Functions as a homotrimer binding the FSH hormone heterodimer composed of CGA and FSHB (PubMed:24692546). Interacts with ARRB2 (By similarity). Interacts with APPL2; interaction is independent of follicle stimulating hormone stimulation (PubMed:17030088).

    Three dimensional structures from OCA and Proteopedia for FSHR Gene

    Alternative splice isoforms for FSHR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FSHR Gene

Post-translational modifications for FSHR Gene

  • Sulfated.
  • N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone.
  • Glycosylation at Asn191, Asn199, Asn293, and Asn318
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for FSHR Gene

Domains & Families for FSHR Gene

Gene Families for FSHR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for FSHR Gene

InterPro:
Blocks:
  • Cysteine-rich flanking region, N-terminal
  • Glycoprotein hormone receptor signature
  • Follicle stimulating hormone receptor precursor signature

Suggested Antigen Peptide Sequences for FSHR Gene

GenScript: Design optimal peptide antigens:
  • FSHR (B6UV79_HUMAN)
  • FSHR (B6UV80_HUMAN)
  • FSHR (B6UV82_HUMAN)
  • Follitropin receptor (FSHR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23945

UniProtKB/Swiss-Prot:

FSHR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
genes like me logo Genes that share domains with FSHR: view

Function for FSHR Gene

Molecular function for FSHR Gene

UniProtKB/Swiss-Prot Function:
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 (PubMed:24058690).
GENATLAS Biochemistry:
follicle stimulating hormone receptor,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for FSHR Gene

Gene Ontology (GO) - Molecular Function for FSHR Gene

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 --
genes like me logo Genes that share ontologies with FSHR: view
genes like me logo Genes that share phenotypes with FSHR: view

Human Phenotype Ontology for FSHR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FSHR Gene

MGI Knock Outs for FSHR:
  • Fshr Fshr<tm1Saco>
  • Fshr Fshr<tm1Mha>
  • Fshr Fshr<tm1(KOMP)Vlcg>

miRNA for FSHR Gene

miRTarBase miRNAs that target FSHR

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSHR

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FSHR Gene

Localization for FSHR Gene

Subcellular locations from UniProtKB/Swiss-Prot for FSHR Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FSHR gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FSHR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FSHR Gene

Pathways & Interactions for FSHR Gene

genes like me logo Genes that share pathways with FSHR: view

Pathways by source for FSHR Gene

2 GeneGo (Thomson Reuters) pathways for FSHR Gene
  • Development Role of Activin A in cell differentiation and proliferation
  • Transcription_CREM signaling in testis

SIGNOR curated interactions for FSHR Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for FSHR Gene

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 --
genes like me logo Genes that share ontologies with FSHR: view

Drugs & Compounds for FSHR Gene

(33) Drugs for FSHR Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Novoseek

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 127
Follitropin Approved Pharma Target, agonist 0

(18) Additional Compounds for FSHR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FSHR: view

Transcripts for FSHR Gene

mRNA/cDNA for FSHR Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSHR

Alternative Splicing Database (ASD) splice patterns (SP) for FSHR Gene

No ASD Table

Relevant External Links for FSHR Gene

GeneLoc Exon Structure for
FSHR

Expression for FSHR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FSHR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FSHR Gene

This gene is overexpressed in Testis (x22.0) and Ovary (x9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FSHR Gene



Protein tissue co-expression partners for FSHR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FSHR

SOURCE GeneReport for Unigene cluster for FSHR Gene:

Hs.1428

mRNA Expression by UniProt/SwissProt for FSHR Gene:

P23945-FSHR_HUMAN
Tissue specificity: Sertoli cells and ovarian granulosa cells.

Evidence on tissue expression from TISSUES for FSHR Gene

  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FSHR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FSHR: view

Primer products for research

No data available for Protein differential expression in normal tissues for FSHR Gene

Orthologs for FSHR Gene

This gene was present in the common ancestor of animals.

Orthologs for FSHR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FSHR 29 30
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FSHR 29 30
  • 90.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FSHR 29 30
  • 90.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fshr 29
  • 87.41 (n)
Mouse
(Mus musculus)
Mammalia Fshr 29 16 30
  • 86.38 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FSHR 30
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 28 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves FSHR 29 30
  • 73.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 77 (a)
OneToMany
-- 30
  • 68 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fshr 29
  • 68.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia fshr-A 29
Zebrafish
(Danio rerio)
Actinopterygii fshr 29 30
  • 63.03 (n)
OneToOne
Dr.24986 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12133 29
Fruit Fly
(Drosophila melanogaster)
Insecta Fsh 31
  • 35 (a)
rk 31
  • 32 (a)
Lgr1 30
  • 28 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C50H2.1 31
  • 30 (a)
fshr-1 30
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToMany
Species where no ortholog for FSHR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FSHR Gene

ENSEMBL:
Gene Tree for FSHR (if available)
TreeFam:
Gene Tree for FSHR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FSHR: view image
Alliance of Genome Resources:
Additional Orthologs for FSHR

Paralogs for FSHR Gene

Paralogs for FSHR Gene

(3) SIMAP similar genes for FSHR Gene using alignment to 8 proteins:

  • FSHR_HUMAN
  • B6UV79_HUMAN
  • B6UV80_HUMAN
  • B6UV82_HUMAN
  • C9JDA1_HUMAN
  • F5GZW2_HUMAN
  • F8WBM4_HUMAN
  • T2HV29_HUMAN
genes like me logo Genes that share paralogs with FSHR: view

Variants for FSHR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FSHR Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1032213 Pathogenic: Ovarian dysgenesis 1 49,068,251(-) AC/A
NM_000145.4(FSHR):c.191del (p.Gly64fs)
FRAMESHIFT
812692 Uncertain Significance: Dizygotic twins 48,963,700(-) A/T
NM_000145.4(FSHR):c.1121T>A (p.Ile374Asn)
MISSENSE
842477 Uncertain Significance: not provided 48,982,922(-) G/A
NM_000145.4(FSHR):c.658C>T (p.Pro220Ser)
MISSENSE
895792 Uncertain Significance: Ovarian hyperstimulation syndrome; Ovarian dysgenesis 1 48,962,919(-) G/A
NM_000145.4(FSHR):c.1902C>T (p.Arg634=)
SYNONYMOUS
895869 Uncertain Significance: Ovarian hyperstimulation syndrome; Ovarian dysgenesis 1 48,963,895(-) C/A
NM_000145.4(FSHR):c.926G>T (p.Gly309Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FSHR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FSHR Gene

Variant ID Type Subtype PubMed ID
dgv218n21 CNV loss 19592680
dgv3807n100 CNV loss 25217958
dgv6855n54 CNV loss 21841781
esv2667546 CNV deletion 23128226
esv2720037 CNV deletion 23290073
esv2720038 CNV deletion 23290073
esv2751895 CNV loss 17911159
esv2762554 CNV loss 21179565
esv28189 CNV loss 19812545
esv3303015 CNV tandem duplication 20981092
esv3583794 CNV loss 25503493
esv3590672 CNV loss 21293372
esv3590673 CNV loss 21293372
esv3590674 CNV gain 21293372
esv3590675 CNV loss 21293372
esv3590676 CNV loss 21293372
esv3892082 CNV loss 25118596
nsv1002793 CNV gain 25217958
nsv1004288 CNV loss 25217958
nsv1008909 CNV gain 25217958
nsv1114083 CNV deletion 24896259
nsv1135867 CNV deletion 24896259
nsv214070 CNV deletion 16902084
nsv2720 CNV deletion 18451855
nsv518852 CNV loss 19592680
nsv523955 CNV loss 19592680
nsv527059 CNV gain 19592680
nsv581791 CNV loss 21841781
nsv581792 CNV gain 21841781
nsv581795 CNV loss 21841781
nsv817862 CNV gain 17921354
nsv817873 CNV gain 17921354
nsv829208 CNV gain 20364138
nsv834003 CNV loss 17160897
nsv954243 CNV deletion 24416366
nsv998864 CNV loss 25217958
nsv999566 CNV loss 25217958

Variation tolerance for FSHR Gene

Residual Variation Intolerance Score: 5.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.93; 89.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FSHR Gene

Human Gene Mutation Database (HGMD)
FSHR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSHR
Leiden Open Variation Database (LOVD)
FSHR

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSHR Gene

Disorders for FSHR Gene

MalaCards: The human disease database

(39) MalaCards diseases for FSHR Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
ovarian hyperstimulation syndrome
  • ohss
ovarian dysgenesis 1
  • odg1
twinning, dizygotic
  • ovarian response to fsh stimulation
46,xx sex reversal 1
  • srxx1
amenorrhea
  • absence of menstruation
- elite association - COSMIC cancer census association via MalaCards
Search FSHR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FSHR_HUMAN
  • Ovarian dysgenesis 1 (ODG1) [MIM:233300]: An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). {ECO:0000269 PubMed:10551778, ECO:0000269 PubMed:11889179, ECO:0000269 PubMed:12571157, ECO:0000269 PubMed:12915623, ECO:0000269 PubMed:7553856, ECO:0000269 PubMed:9769327, ECO:0000269 PubMed:9851774}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]: Disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis. {ECO:0000269 PubMed:12930927, ECO:0000269 PubMed:12930928, ECO:0000269 PubMed:15080154, ECO:0000269 PubMed:16278261, ECO:0000269 PubMed:17721928, ECO:0000269 PubMed:24058690, ECO:0000269 PubMed:25581598}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FSHR

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FSHR: view

No data available for Genatlas for FSHR Gene

Publications for FSHR Gene

  1. A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. (PMID: 12571157) Allen LA … Ball SG (Human reproduction (Oxford, England) 2003) 3 4 22 72
  2. A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. (PMID: 11889179) Doherty E … Aittomäki K (The Journal of clinical endocrinology and metabolism 2002) 3 4 22 72
  3. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. (PMID: 9769327) Beau I … Misrahi M (The Journal of clinical investigation 1998) 3 4 22 72
  4. The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. (PMID: 9851774) Jiang M … Huhtaniemi I (The Journal of clinical endocrinology and metabolism 1998) 3 4 22 72
  5. Genetic variations of follicle stimulating hormone receptor are associated with polycystic ovary syndrome. (PMID: 20514429) Gu BH … Baek KH (International journal of molecular medicine 2010) 3 22 40

Products for FSHR Gene

  • Addgene plasmids for FSHR

Sources for FSHR Gene