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FSHR Gene

protein-coding   GIFtS: 70
GCID: GC02M049189

Follicle Stimulating Hormone Receptor


(Previous symbol: ODG1)
  See FSHR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Follicle Stimulating Hormone Receptor1 2     FSHRO2
ODG11 2 5     Follicle-Stimulating Hormone Receptor2
Follitropin Receptor2 3     FSH Receptor2
LGR12 3     FSH-R3

External Ids:    HGNC: 39691   Entrez Gene: 24922   Ensembl: ENSG000001708207   OMIM: 1364355   UniProtKB: P239453   

Export aliases for FSHR gene to outside databases

Previous GC identifers: GC02M049220 GC02M049358 GC02M049164 GC02M049101 GC02M048923


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 response to fsh stimulation, and estrogen excess. GO annotations related to this gene include follicle-stimulating hormone receptor activity. An important paralog of this gene is LHCGR.

UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945
Function: Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which
activate adenylate cyclase

Gene Wiki entry for FSHR (FSH-receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the FSHR gene promoter:
         FOXO1a   POU3F2   ATF   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFSHR promoter sequence
   Search Chromatin IP Primers for FSHR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FSHR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21-p16   Ensembl cytogenetic band:  2p16.3   HGNC cytogenetic band: 2p21-p16

FSHR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FSHR gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M049189:  view genomic region     (about GC identifiers)

Start:
49,189,296 bp from pter      End:
49,381,676 bp from pter
Size:
192,381 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945 (See protein sequence)
Recommended Name: Follicle-stimulating hormone receptor precursor  
Size: 695 amino acids; 78265 Da
Subunit: Interacts with ARRB2 (By similarity)
3 PDB 3D structures from and Proteopedia for FSHR:
1XUN (3D)        1XWD (3D)        4AY9 (3D)    
Secondary accessions: A8K947 G5CBS7 G5E967 J3KQ00 Q05AH0 Q16225 Q4QRJ3 Q4ZFZ2 Q53RW2
Alternative splicing: 4 isoforms:  P23945-1   P23945-2   P23945-3   P23945-4   

Explore the universe of human proteins at neXtProt for FSHR: NX_P23945

Explore proteomics data for FSHR at MOPED

Post-translational modifications: 

  • N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high
    affinity binding of hormone (By similarity)1
  • Glycosylation2 at Asn191, Asn199, Asn293, Asn318
  • Modification sites at PhosphoSitePlus

  • See FSHR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000136.2  NP_852111.2  

    ENSEMBL proteins: 
     ENSP00000384708   ENSP00000306780   ENSP00000415504   ENSP00000405775   ENSP00000333908  
     ENSP00000444172  
    Reactome Protein details: P23945

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GTSHR: GPCR / Class A : Gonadotropin and TSH receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: FSH receptor
    Glycoprotein hormone receptors

    Selected InterPro protein domains (see all 6):
     IPR017452 GPCR_Rhodpsn_7TM
     IPR002131 Gphrmn_rcpt_fam
     IPR002272 FSH_rcpt
     IPR024635 GnHR_TM
     IPR000372 LRR-contain_N

    Graphical View of Domain Structure for InterPro Entry P23945

    ProtoNet protein and cluster: P23945

    3 Blocks protein domains:
    IPB000372 Cysteine-rich flanking region
    IPB002131 Glycoprotein hormone receptor signature
    IPB002272 Follicle stimulating hormone receptor precursor signature


    UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945
    Similarity: Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily
    Similarity: Contains 9 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRNT domain


    Find genes that share domains with FSHR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FSHR_HUMAN, P23945
    Function: Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which
    activate adenylate cyclase

         Genatlas biochemistry entry for FSHR:
    follicle stimulating hormone receptor,G protein coupled receptor superfamily

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0004963follicle-stimulating hormone receptor activity IEA--
    GO:0005515protein binding IPI15196694
    GO:0017046peptide hormone binding IEA--
         
    Find genes that share ontologies with FSHR           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FSHR:
     Decreased Salmonella enterica  

         Selected MGI mutant phenotypes (inferred from 3 alleles(MGI details for Fshr) (see all 17):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  nervous system  other  reproductive system 

    Find genes that share phenotypes with FSHR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for FSHR: Fshrtm1Saco Fshrtm1Mha

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    SwitchGear 3'UTR luciferase reporter plasmidFSHR 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FSHR_HUMAN, P23945: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome IEA--
    GO:0005886plasma membrane TAS--
    GO:0009986cell surface IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with FSHR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FSHR About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.43
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Neuropeptides signaling through G protein alpha i and G protein alpha q
    Peptide GPCRs0.46
    4Ca-dependent events
    Development Role of Activin A in cell differentiation and proliferation0.32
    5Transcription CREM signaling in testis
    Transcription CREM signaling in testis


    Find genes that share SuperPaths with FSHR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for FSHR
        Development Role of Activin A in cell differentiation and proliferation
    Transcription CREM signaling in testis

    5 BioSystems Pathways for FSHR
        GPCRs, Other
    Ovarian Infertility Genes
    GPCRs, Class A Rhodopsin-like
    FSH signaling pathway
    Peptide GPCRs


    2 Reactome Pathways for FSHR
        Hormone ligand-binding receptors
    G alpha (s) signalling events


    2 Kegg Pathways  (Kegg details for FSHR):
        Neuroactive ligand-receptor interaction
    Ovarian steroidogenesis

        Pathway & Disease-focused RT2 Profiler PCR Array including FSHR: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FSHR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FSHR (P239451, 2, 3 ENSP000003847084) via UniProtKB, MINT, STRING, and/or I2D (see all 84)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273481, 2, 3, ENSP000002380814EBI-848239,EBI-359854 MINT-8009599 MINT-8010010 I2D: score=3 STRING: ENSP00000238081
    APPL1Q9UKG13, ENSP000002882664I2D: score=2 STRING: ENSP00000288266
    GRK6P432503, ENSP000003772044I2D: score=2 STRING: ENSP00000377204
    GRK4P322983, ENSP000003811294I2D: score=1 STRING: ENSP00000381129
    S100A10P609033, ENSP000003577994I2D: score=1 STRING: ENSP00000357799
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development ----
    GO:0001545primary ovarian follicle growth IEA--
    GO:0001932regulation of protein phosphorylation IEA--
    GO:0003073regulation of systemic arterial blood pressure IEA--
    GO:0007186G-protein coupled receptor signaling pathway TAS9020851

    Find genes that share ontologies with FSHR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FSHR

    5 DrugBank Compounds for FSHR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Follitropin betaFollicle-stimulating hormone beta subunit (see all 5)9002-68-0targetagonist18020563 11299519 11752352 2108722 8070368 8319832 7755615
    UrofollitropinFollicle-stimulating hormone beta subunit (see all 4)146479-72-3targetagonist11299519 11752352 2108722 8319832 7755615 8070368
    MenotropinsLH-B (see all 5)61489-71-2targetbinder17139284 7872378 11752352 14680547 17016423
    Choriogonadotropin alfaCG-beta (see all 3)177073-44-8targetbinder17059863 11752352 20374735 9027352
    SuraminBayer 205 (see all 6)145-63-1targetantagonist17552360 18991754

    3 IUPHAR Ligands for FSHR (FSH receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    FSH
    AgonistFull agonist6.7 - 11.312706300
    FSH deglycosylated alpha/beta
    AntagonistAntagonist108188681
    [125I]FSH (human)
    AgonistFull agonist10--

    Selected Novoseek inferred chemical compound relationships for FSHR gene (see all 39)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fmpp 62.6 2 9562960 (1), 10585764 (1)
    thiazolidinone 59.1 7 18252197 (4), 16540466 (1), 15002967 (1)
    estradiol 55.5 9 14757479 (2), 16540466 (1), 18063689 (1), 8835681 (1) (see all 7)
    testosterone 54 19 18697861 (2), 11866694 (2), 17179193 (2), 7665215 (2) (see all 11)
    gnrh 51.9 7 17447629 (1), 15146100 (1), 11600542 (1), 19403562 (1) (see all 5)
    progesterone 48.3 13 18325989 (2), 16540466 (1), 8033817 (1), 10965925 (1) (see all 12)
    estrogen 41 24 19687284 (2), 20172968 (1), 20428406 (1), 10443703 (1) (see all 12)
    adenylate 39.4 5 7734057 (1), 8033817 (1), 8882170 (1), 8384005 (1) (see all 5)
    alanine 39.2 4 9020851 (1), 10996428 (1), 10685529 (1), 15279907 (1)
    ribonucleic acid 31.8 3 1322283 (1), 9435455 (1), 9360535 (1)



    Find genes that share compounds with FSHR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FSHR gene (2 alternative transcripts): 
    NM_000145.3  NM_181446.2  

    Unigene Cluster for FSHR:

    Follicle stimulating hormone receptor
    Hs.1428  [show with all ESTs]
    Unigene Representative Sequence: NM_000145
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406846(uc002rww.3 uc010fbn.3) ENST00000304421 ENST00000454032
    ENST00000469138 ENST00000419927(uc010fbo.2) ENST00000346173(uc002rwx.3)
    ENST00000541117
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    hsa-miR-653 hsa-miR-633 hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-944 hsa-miR-23c
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    Additional mRNA sequence: 

    AK292562.1 AK301899.1 AK310367.1 AY429104.1 BC096831.1 BC118548.1 BC125270.1 JN003607.1 
    M65085.1 M95489.1 S59900.1 X68044.1 

    3 DOTS entries:

    DT.308058  DT.91751765  DT.120954271 

    10 AceView cDNA sequences:

    NM_181446 M95489 S59900 NM_000145 CN839208 AY429104 M65085 BV183412 
    X68044 CN838939 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FSHR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATACATTA
    FSHR Expression
    About this image


    FSHR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Sertoli cells Seminiferous Tubules
             Seminiferous Tubules
     
     NULL (Uncategorized)    fully expand to see all 3 entries
             Mesoderm-like cells
     
     Ovary (Reproductive System)
             Mature follicles
    FSHR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FSHR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1428

    UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945
    Tissue specificity: Sertoli cells and ovarian granulosa cells

        Pathway & Disease-focused RT2 Profiler PCR Array including FSHR: 
              G Protein Coupled Receptors 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FSHR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FSHR gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fshr1 , 5 follicle stimulating hormone receptor1, 5 86.38(n)1
    87.91(a)1
      17 (58.76 cM)5
    143091  NM_013523.31  NP_038551.31 
     889851705 
    chicken
    (Gallus gallus)
    Aves FSHR1 follicle stimulating hormone receptor 73.51(n)
    74.15(a)
      395962  NM_205079.1  NP_990410.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    77(a)
    68(a)
    1 ↔ many
    1 ↔ many
    1(259949136-259949819)
    1(259910086-259921772)
    African clawed frog
    (Xenopus laevis)
    Amphibia fshr-A2 follicle stimulating hormone receptor 74.4(n)    AJ249846.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.249862 Danio rerio follicle-stimulating hormone receptor (fshr) more 75.6(n)    AY278107.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fsh3 G-protein coupled receptor protein
    signaling pathway more
    35(a)
    (best of 2)
      3 90C2   --
    worm
    (Caenorhabditis elegans)
    Secernentea C50H2.13 steroid hormone receptor 30(a)   V(9892549-9897216)   --


    ENSEMBL Gene Tree for FSHR (if available)
    TreeFam Gene Tree for FSHR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FSHR gene
    LHCGR2  LGR52  RXFP12  LGR62  RXFP22  TSHR2  LGR42  
    3 SIMAP similar genes for FSHR using alignment to 8 protein entries:     FSHR_HUMAN (see all proteins):
    LHCGR    TSHR    LGR5

    Find genes that share paralogs with FSHR           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FSHR (see all 4858)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs61661,2,,4
    C,F,A,Hdrug-response149057652(-) CACCAA/GTGGTT 4 N S mis1 ese356Minor allele frequency- N:0.00MN EA NA NS WA CSA EU 11526
    rs289288711,2,,4
    COvarian hyperstimulation syndrome (OHSS)4 pathogenic149057992(-) CTAGTA/GACACC 4 N D mis1 ese30--------
    rs289288701,2,,4
    COvarian hyperstimulation syndrome (OHSS)4 pathogenic149058345(-) TTTCAC/TTGTCT 4 T I mis1 ese30--------
    rs61651,2,,4
    C,F,Hdrug-response149058772(-) CTCAGG/ACTAGG 4 /T /A mis1 ese342Minor allele frequency- A:0.47MN NA NS EA WA CSA EU 10295
    VAR_0392814
    Ovarian dysgenesis 1 (ODG1)4--see VAR_0392812 P R mis40--------
    VAR_0180484
    Ovarian dysgenesis 1 (ODG1)4--see VAR_0180482 R C mis40--------
    VAR_0180474
    Ovarian dysgenesis 1 (ODG1)4--see VAR_0180472 A T mis40--------
    VAR_0392844
    Ovarian hyperstimulation syndrome (OHSS)4--see VAR_0392842 I T mis40--------
    VAR_0180454
    Ovarian dysgenesis 1 (ODG1)4--see VAR_0180452 I T mis40--------
    VAR_0180464
    Ovarian dysgenesis 1 (ODG1)4--see VAR_0180462 A V mis40--------

    HapMap Linkage Disequilibrium report for FSHR (49189296 - 49381676 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FSHR (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667546CNV Deletion23128226
    esv2720038CNV Deletion23290073
    esv2720037CNV Deletion23290073
    dgv218n21CNV Loss19592680
    dgv4113n71CNV Loss21882294
    nsv834003CNV Loss17160897
    nsv2720CNV Loss18451855
    nsv874008CNV Loss21882294
    esv28189CNV Loss19812545
    nsv874007CNV Loss21882294

    Human Gene Mutation Database (HGMD): FSHR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FSHR
    DNA2.0 Custom Variant and Variant Library Synthesis for FSHR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 136435   
    OMIM disorders: 233300  276400  608115  
    UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945
  • 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). Note=The disease is caused by
    mutations 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for FSHR:    
    About MalaCards
    ovarian response to fsh stimulation    estrogen excess    ovarian dysgenesis 1    mucinous cystadenocarcinoma
    ovarian hyperstimulation syndrome    ovarian mucinous cystadenocarcinoma    premature menopause    cystadenocarcinoma
    precocious puberty, male    amenorrhea    cystadenoma    coronary thrombosis
    ovarian disease

    10 diseases from the University of Copenhagen DISEASES database for FSHR:
    Premature ovarian failure     Infertility     Ovarian hyperstimulation syndrome     Amenorrhea
    Male infertility     Polycystic ovary syndrome     Ovarian dysfunction     Hypogonadism
    Ovarian cancer     Cholera

    Find genes that share disorders with FSHR           About GenesLikeMe

    Selected Novoseek inferred disease relationships for FSHR gene (see all 56)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    absolute infertility 87.8 1 17161332 (1)
    xx gonadal dysgenesis 85.2 3 16864747 (1), 7553856 (1)
    ovarian failure premature 83.6 22 20086006 (2), 11383926 (2), 18591890 (2), 1592865 (1) (see all 17)
    ovarian dysgenesis 80.8 3 9890061 (1), 8855829 (1), 9562960 (1)
    ovarian hyperstimulation syndrome 77.4 21 17074323 (2), 17721928 (2), 18321487 (2), 19391457 (1) (see all 14)
    primary amenorrhea 76.2 12 19172541 (3), 11889179 (2), 9890061 (1), 20514429 (1) (see all 7)
    resistant ovary syndrome 75.8 3 15249125 (1), 10468971 (1), 12444891 (1)
    primary ovarian failure 67.1 5 8855829 (1), 11756374 (1), 11889179 (1), 18084009 (1)
    granulosa cell tumor 67 21 19539204 (4), 9435455 (3), 11063655 (2), 10372736 (1) (see all 9)
    ovarian mucinous cystadenocarcinoma 64.9 6 17393121 (2), 16711022 (2)

    Genetic Association Database (GAD): FSHR
    Human Genome Epidemiology (HuGE) Navigator: FSHR (65 documents)

    Export disorders for FSHR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FSHR gene, integrated from 10 sources (see all 491):
    (articles sorted by number of sources associating them with FSHR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Distribution and function of FSH receptor genetic variants in normal men. (PubMed id 12059813)1, 2, 4 Asatiani K....Simoni M. (Andrologia 2002)
    2. A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. (PubMed id 11889179)1, 2, 9 Doherty E.... Aittomaeki K. (J. Clin. Endocrinol. Metab. 2002)
    3. Follitropin receptors contain cryptic ligand binding sites. (PubMed id 17059863)1, 7, 9 Lin W....Moyle W.R. (Mol. Cell. Endocrinol. 2007)
    4. A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. (PubMed id 12571157)1, 2, 9 Allen L.A.... Ball S.G. (Hum. Reprod. 2003)
    5. Genetic variations of follicle stimulating hormone receptor are associated with polycystic ovary syndrome. (PubMed id 20514429)1, 4, 9 Gu B.H....Baek K.H. (Int. J. Mol. Med. 2010)
    6. FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. (PubMed id 20454649)1, 4, 9 Balkan M....Budak T. (amp 2010)
    7. Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype. (PubMed id 18591890)1, 4, 9 Vilodre L.C....Spritzer P.M. (J. Endocrinol. Invest. 2008)
    8. Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome. (PubMed id 17721928)1, 2, 9 De Leener A....Costagliola S. (Hum. Mutat. 2008)
    9. Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET. (PubMed id 16871362)1, 4, 9 Jun J.K....Moon S.Y. (J. Hum. Genet. 2006)
    10. Genetic analysis of the follicle stimulating hormone receptor gene in women with polycystic ovary syndrome. (PubMed id 17259794)1, 4, 9 Orio F....Tonacchera M. (J. Endocrinol. Invest. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2492 HGNC: 3969 AceView: FSHR Ensembl:ENSG00000170820 euGenes: HUgn2492
    ECgene: FSHR Kegg: 2492 H-InvDB: FSHR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FSHR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FSHR Genetics and Cytogenetics in Oncology and Haematology
    GRIShttp://gris.ulb.ac.be/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FSHR[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=FSHR
    Sequence-structure-function-analysis of glycoprotein hormone receptorshttp://www.ssfa-gphr.de/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FSHR gene:
    Search GeneIP for patents involving FSHR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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