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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] See more...
Aliases for FSHR Gene
Aliases for FSHR Gene
External Ids for FSHR Gene
- HGNC: 3969
- NCBI Entrez Gene: 2492
- Ensembl: ENSG00000170820
- OMIM®: 136435
- UniProtKB/Swiss-Prot: P23945
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
-
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).
Additional gene information 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
Genomic View for FSHR Gene
Genes around FSHR on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p16.3 by HGNC
- 2p16.3 by Entrez Gene
- 2p16.3 by Ensembl
FSHR Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
- NX_P23945 (NX_P23945-1)
- Modification sites at PhosphoSitePlus
Other Protein References for FSHR Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences FSH Receptor / FSHR Antibody (LS-A4004) and FSH Receptor / FSHR Antibody (LS-A2231)
- NSJ Bioreagents FSH Receptor Antibody (Mouse Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for FSHR
- Novus Biologicals Antibodies for FSHR
- Invitrogen Antibodies for FSHR (AFLGC-FSHR)
- antibodies-online: Show 34 available FSHR Antibodies ranked by validation data
- Compare Top FSHR Antibodies
-
Recommended
- 102 WB Antibodies (anti-human)
- 35 IHC (p) Antibodies (anti-human)
- 29 IHC Antibodies (anti-human)
- 26 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 2 Neut Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 59 WB Antibodies (anti-mouse)
- 13 FACS Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IP Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 49 WB Antibodies (anti-rat)
- 13 FACS Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FSHR
- Origene Custom Protein Services for FSHR
- Novus Biologicals proteins for FSHR
-
Abcam proteins for FSHR
Assay products for research
-
Boster Bio ELISA Kits for FSHR
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
P23945UniProtKB/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.
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
| 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 | -- |
Phenotypes for FSHR Gene
- MGI mutant phenotypes for FSHR:
-
inferred from 4 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- hematopoietic system phenotype
- neoplasm
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for FSHR:
-
- Reduced mammosphere formation
- no effect
- Decreased viability after Maraba virus infection
- Decreased vaccinia virus (VACV) infection
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased Salmonella enterica Typhimurium invasion
- Increased epidermal growth factor (EGF) endocytosis, increased transferrin (TF) endocytosis
Animal Models for FSHR Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FSHR - Starting at $85 >
- * FSHR CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FSHR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FSHR
-
Santa Cruz Biotechnology (SCBT) CRISPR for FSHR
miRNA for FSHR Gene
- miRTarBase miRNAs that target FSHR
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FSHR
- Browse OriGene Inhibitory RNA Products For FSHR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSHR
Clone products for research
- Applied Biological Materials (abm): Clones for FSHR - Starting at $45 >
- * FSHR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for FSHR
- Addgene plasmids for FSHR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FSHR
Cell Lines for research
-
Horizon Cell Lines 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.
| 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 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for FSHR Gene
Pathways & Interactions for FSHR Gene
| 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 | ||
Pathways by source for FSHR Gene
5 BioSystems pathways for FSHR Gene
7 Reactome pathways for FSHR Gene
3 KEGG pathways 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
Interacting Proteins for FSHR Gene
Selected Interacting proteins:
P23945-FSHR_HUMAN
ENSP00000384708
for FSHR Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FSHR
| 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 | -- |
Drugs & Compounds for FSHR Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
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 :
-
- ENST00000304421 2176 nts (view in UCSC)
- ENST00000406846 2762 nts (view in UCSC)
- ENST00000419927 936 nts (view in UCSC)
- ENST00000454032 851 nts (view in UCSC)
- ENST00000469138 548 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FSHR - Starting at $85 >
- * FSHR CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FSHR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FSHR
-
Santa Cruz Biotechnology (SCBT) CRISPR for FSHR
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FSHR
- Browse OriGene Inhibitory RNA Products For FSHR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSHR
Clone products for research
- Applied Biological Materials (abm): Clones for FSHR - Starting at $45 >
- * FSHR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for FSHR
- Addgene plasmids for FSHR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FSHR
Relevant External Links for FSHR Gene
- GeneLoc Exon Structure for
- FSHR
Expression for FSHR Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- NULL (Uncategorized)
-
Testis (Reproductive System)
- Sertoli cells Seminiferous Tubules
- Ovary (Reproductive System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FSHR
SOURCE GeneReport for Unigene cluster for FSHR Gene:
Hs.1428mRNA 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
Primer products for research
-
OriGene qPCR primer pairs for FSHR
-
OriGene qPCR primer pairs and template standards for FSHR
Gene Expression Assays 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FSHR 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FSHR 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FSHR 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fshr 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Fshr 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FSHR 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | FSHR 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fshr 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | fshr-A 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | fshr 29 30 |
|
OneToOne | |
| Dr.24986 29 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12133 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Fsh 31 |
|
|
|
| rk 31 |
|
|
|||
| Lgr1 30 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | C50H2.1 31 |
|
|
|
| fshr-1 30 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
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
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ovarian hyperstimulation syndrome |
|
|
| ovarian dysgenesis 1 |
|
|
| twinning, dizygotic |
|
|
| 46,xx sex reversal 1 |
|
|
| amenorrhea |
|
|
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
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No data available for Genatlas for FSHR Gene
Publications for FSHR Gene
- 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
- 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
- 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
- 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
- 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
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