Details for: FSHR

Gene ID: 2492

Symbol: FSHR

Ensembl ID: ENSG00000170820

Description: follicle stimulating hormone receptor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 2.7613
    Cell Significance Index: 14.5300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.8360
    Cell Significance Index: 44.4700
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.6374
    Cell Significance Index: 9.2900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.3344
    Cell Significance Index: 5.7300
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 0.3123
    Cell Significance Index: 2.9900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2415
    Cell Significance Index: 6.3500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.2116
    Cell Significance Index: 2.1900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.1626
    Cell Significance Index: 4.7900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1409
    Cell Significance Index: 191.6100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1354
    Cell Significance Index: 27.1700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1102
    Cell Significance Index: 2.1500
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.0745
    Cell Significance Index: 0.9600
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.0606
    Cell Significance Index: 0.6300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0552
    Cell Significance Index: 1.4200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0476
    Cell Significance Index: 1.3300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0453
    Cell Significance Index: 6.5800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0404
    Cell Significance Index: 0.5800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0396
    Cell Significance Index: 73.1100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0318
    Cell Significance Index: 48.8900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.0224
    Cell Significance Index: 0.3400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0158
    Cell Significance Index: 0.9700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0130
    Cell Significance Index: 24.4400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0097
    Cell Significance Index: 3.4800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.0071
    Cell Significance Index: 0.7400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0062
    Cell Significance Index: 4.3100
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.0046
    Cell Significance Index: 0.0400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0037
    Cell Significance Index: 0.7300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0002
    Cell Significance Index: 0.0300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0008
    Cell Significance Index: -0.3600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0041
    Cell Significance Index: -2.6200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0053
    Cell Significance Index: -3.9600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0068
    Cell Significance Index: -1.9600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0072
    Cell Significance Index: -4.0600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0074
    Cell Significance Index: -4.6200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0112
    Cell Significance Index: -0.1600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0113
    Cell Significance Index: -1.9300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0207
    Cell Significance Index: -1.3900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0210
    Cell Significance Index: -4.4200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0219
    Cell Significance Index: -0.4800
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0219
    Cell Significance Index: -0.3000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0229
    Cell Significance Index: -4.1200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0269
    Cell Significance Index: -0.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0342
    Cell Significance Index: -1.9200
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.0345
    Cell Significance Index: -0.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0355
    Cell Significance Index: -4.3600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0355
    Cell Significance Index: -4.0700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0395
    Cell Significance Index: -4.0400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0404
    Cell Significance Index: -1.5300
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0433
    Cell Significance Index: -0.6000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0443
    Cell Significance Index: -3.4000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0447
    Cell Significance Index: -0.6600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0520
    Cell Significance Index: -2.3000
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0554
    Cell Significance Index: -0.5300
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.0597
    Cell Significance Index: -0.6900
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0606
    Cell Significance Index: -0.8500
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0664
    Cell Significance Index: -0.9300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0709
    Cell Significance Index: -0.8800
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.0711
    Cell Significance Index: -1.2200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0716
    Cell Significance Index: -3.2500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0748
    Cell Significance Index: -2.6200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0772
    Cell Significance Index: -2.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0772
    Cell Significance Index: -3.6300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0772
    Cell Significance Index: -1.3000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0828
    Cell Significance Index: -2.6200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0849
    Cell Significance Index: -2.2800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0856
    Cell Significance Index: -1.0200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0870
    Cell Significance Index: -2.8500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0921
    Cell Significance Index: -1.3600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0947
    Cell Significance Index: -2.0100
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.0990
    Cell Significance Index: -0.8800
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0996
    Cell Significance Index: -1.4900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1000
    Cell Significance Index: -2.1600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1020
    Cell Significance Index: -2.9100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1024
    Cell Significance Index: -2.4600
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.1037
    Cell Significance Index: -1.3100
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1071
    Cell Significance Index: -1.2500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1100
    Cell Significance Index: -1.4100
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.1107
    Cell Significance Index: -1.4500
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1172
    Cell Significance Index: -2.3900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1195
    Cell Significance Index: -2.4000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1210
    Cell Significance Index: -3.2300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1231
    Cell Significance Index: -2.5700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1245
    Cell Significance Index: -4.5700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1249
    Cell Significance Index: -2.4700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1252
    Cell Significance Index: -4.4000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1265
    Cell Significance Index: -3.1600
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.1277
    Cell Significance Index: -1.6700
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.1338
    Cell Significance Index: -1.2100
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.1359
    Cell Significance Index: -1.6400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1377
    Cell Significance Index: -3.3600
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.1396
    Cell Significance Index: -0.8600
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.1412
    Cell Significance Index: -1.4900
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.1413
    Cell Significance Index: -1.8100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1441
    Cell Significance Index: -1.5700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1444
    Cell Significance Index: -3.6800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1446
    Cell Significance Index: -2.4200
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1451
    Cell Significance Index: -1.5900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1496
    Cell Significance Index: -4.3100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1520
    Cell Significance Index: -4.0700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1567
    Cell Significance Index: -2.7100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Receptor Structure:** FSHR is a transmembrane receptor with seven-pass transmembrane domains, characteristic of G protein-coupled receptors. 2. **Binding Affinity:** FSHR exhibits high affinity for FSH, allowing for efficient signaling upon hormone binding. 3. **Signaling Pathways:** FSHR activates adenylate cyclase activity, leading to increased cAMP levels, which in turn triggers various downstream signaling pathways, including the ERK1/2 cascade and PI3K/Akt pathway. 4. **Cellular Expression:** FSHR is expressed in various cell types, including progenitor cells, retinal cells, and endothelial cells, highlighting its broad tissue distribution. **Pathways and Functions:** 1. **Adenylate Cyclase Activity:** Activation of adenylate cyclase by FSHR leads to increased cAMP levels, which in turn activates protein kinase A (PKA) and various downstream signaling pathways. 2. **ERK1/2 Cascade:** Positive regulation of the ERK1/2 cascade by FSHR is essential for cell proliferation, differentiation, and survival. 3. **PI3K/Akt Pathway:** Activation of the PI3K/Akt pathway by FSHR promotes cell survival, growth, and metabolism. 4. **Spermatogenesis:** FSHR plays a critical role in regulating spermatogenesis, ensuring the production of healthy spermatozoa. 5. **Ovarian Function:** FSHR is essential for regulating ovarian function, including follicular growth and ovulation. **Clinical Significance:** 1. **Infertility:** Dysregulation of FSHR signaling has been implicated in various forms of infertility, including polycystic ovary syndrome (PCOS) and premature ovarian failure (POF). 2. **Reproductive Cancer:** Altered FSHR expression has been linked to the development and progression of reproductive cancers, such as ovarian and testicular cancer. 3. **Neurological Disorders:** FSHR has been implicated in various neurological disorders, including retinitis pigmentosa and Alzheimer's disease, highlighting its role in cellular signaling and development. 4. **Endocrine Disorders:** FSHR dysregulation has been linked to various endocrine disorders, including thyroid disease and adrenal insufficiency. In conclusion, the FSHR gene plays a vital role in regulating reproductive and developmental processes, and its dysregulation can have significant clinical implications. Further research into the signaling pathways and functions of FSHR will provide valuable insights into the development of novel therapeutic strategies for various diseases.

Genular Protein ID: 2872918300

Symbol: FSHR_HUMAN

Name: Follicle-stimulating hormone receptor

UniProtKB Accession Codes:

P23945 A0A0A0MSC5 A0A1D5RMN4 A8K947 G5CBS7 G5E967 J3KQ00 Q05AH0 Q16225 Q4QRJ3 Q4ZFZ2 Q53RW2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EMBL 17 EMDB 2 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 18 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 1 PRINTS 3 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 2 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1709010

Title: Cloning and sequencing of human FSH receptor cDNA.

PubMed ID: 1709010

DOI: 10.1016/0006-291x(91)91682-3

PubMed ID: 1322283

Title: Expression of recombinant human follicle-stimulating hormone receptor: species-specific ligand binding, signal transduction, and identification of multiple ovarian messenger ribonucleic acid transcripts.

PubMed ID: 1322283

DOI: 10.1210/endo.131.2.1322283

PubMed ID: 1301382

Title: The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells.

PubMed ID: 1301382

DOI: 10.1016/0303-7207(92)90220-z

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1359889

Title: Molecular cloning of a truncated isoform of the human follicle stimulating hormone receptor.

PubMed ID: 1359889

DOI: 10.1016/0006-291x(92)91341-m

PubMed ID: 7926278

Title: Characterization of the 5' flanking region of the human follicle-stimulating hormone receptor gene.

PubMed ID: 7926278

DOI: 10.1016/0303-7207(94)90102-3

PubMed ID: 7916967

Title: Localization of the human FSH receptor to chromosome 2p21 using a genomic probe comprising exon 10.

PubMed ID: 7916967

DOI: 10.1677/jme.0.0120265

PubMed ID: 11847099

Title: Tyrosine sulfation is required for agonist recognition by glycoprotein hormone receptors.

PubMed ID: 11847099

DOI: 10.1093/emboj/21.4.504

PubMed ID: 11872202

Title: Alternatively spliced variants of the follicle-stimulating hormone receptor gene in the testis of infertile men.

PubMed ID: 11872202

DOI: 10.1016/s0015-0282(01)03221-6

PubMed ID: 17030088

Title: APPL1, APPL2, Akt2 and FOXO1a interact with FSHR in a potential signaling complex.

PubMed ID: 17030088

DOI: 10.1016/j.mce.2006.08.014

PubMed ID: 8747461

Title: Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions.

PubMed ID: 8747461

DOI: 10.1016/s0969-2126(01)00272-6

PubMed ID: 15662415

Title: Structure of human follicle-stimulating hormone in complex with its receptor.

PubMed ID: 15662415

DOI: 10.1038/nature03206

PubMed ID: 24692546

Title: Evidence for follicle-stimulating hormone receptor as a functional trimer.

PubMed ID: 24692546

DOI: 10.1074/jbc.m114.549592

PubMed ID: 7553856

Title: Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.

PubMed ID: 7553856

DOI: 10.1016/0092-8674(95)90275-9

PubMed ID: 9100567

Title: A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors.

PubMed ID: 9100567

DOI: 10.1210/jcem.82.4.3870

PubMed ID: 8636335

Title: An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man.

PubMed ID: 8636335

DOI: 10.1210/jcem.81.4.8636335

PubMed ID: 9851774

Title: 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.

PubMed ID: 9851774

DOI: 10.1210/jcem.83.12.5306

PubMed ID: 9769327

Title: A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.

PubMed ID: 9769327

DOI: 10.1172/jci3795

PubMed ID: 10551778

Title: New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.

PubMed ID: 10551778

DOI: 10.1210/mend.13.11.0370

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 12059813

Title: Distribution and function of FSH receptor genetic variants in normal men.

PubMed ID: 12059813

DOI: 10.1046/j.1439-0272.2002.00493.x

PubMed ID: 11889179

Title: A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.

PubMed ID: 11889179

DOI: 10.1210/jcem.87.3.8319

PubMed ID: 12571157

Title: A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.

PubMed ID: 12571157

DOI: 10.1093/humrep/deg046

PubMed ID: 12915623

Title: Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies.

PubMed ID: 12915623

DOI: 10.1210/jc.2003-030217

PubMed ID: 12930927

Title: A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome.

PubMed ID: 12930927

DOI: 10.1056/nejmoa030065

PubMed ID: 12930928

Title: Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.

PubMed ID: 12930928

DOI: 10.1056/nejmoa030064

PubMed ID: 15080154

Title: A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome.

PubMed ID: 15080154

DOI: 10.1210/jc.2003-031910

PubMed ID: 16278261

Title: Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.

PubMed ID: 16278261

DOI: 10.1210/jc.2005-1580

PubMed ID: 17721928

Title: Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.

PubMed ID: 17721928

DOI: 10.1002/humu.20604

PubMed ID: 24058690

Title: Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome.

PubMed ID: 24058690

DOI: 10.1371/journal.pone.0075478

PubMed ID: 25581598

Title: Functional characterization of two naturally occurring mutations (Val514Ala and Ala575Val) in follicle-stimulating hormone receptor.

PubMed ID: 25581598

DOI: 10.1210/jc.2014-3662

Sequence Information:

  • Length: 695
  • Mass: 78238
  • Checksum: 4C5BC421014CD5BE
  • Sequence:
    • MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV 
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP 
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN 
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILDISRTRI HSLPSYGLEN 
LKKLRARSTY NLKKLPTLEK LVALMEASLT YPSHCCAFAN WRRQISELHP ICNKSILRQE 
VDYMTQARGQ RSSLAEDNES SYSRGFDMTY TEFDYDLCNE VVDVTCSPKP DAFNPCEDIM 
GYNILRVLIW FISILAITGN IIVLVILTTS QYKLTVPRFL MCNLAFADLC IGIYLLLIAS 
VDIHTKSQYH NYAIDWQTGA GCDAAGFFTV FASELSVYTL TAITLERWHT ITHAMQLDCK 
VQLRHAASVM VMGWIFAFAA ALFPIFGISS YMKVSICLPM DIDSPLSQLY VMSLLVLNVL 
AFVVICGCYI HIYLTVRNPN IVSSSSDTRI AKRMAMLIFT DFLCMAPISF FAISASLKVP 
LITVSKAKIL LVLFHPINSC ANPFLYAIFT KNFRRDFFIL LSKCGCYEMQ AQIYRTETSS 
TVHNTHPRNG HCSSAPRVTS GSTYILVPLS HLAQN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.