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Symbol FSHR contributors: mct - updated : 08-06-2016
HGNC name follicle stimulating hormone receptor
HGNC id 3969
TYPE functioning gene
STRUCTURE 191.97 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure E-box 3 and the initiator element are important elements of the FSHR promoter
MAPPING cloned Y linked   status confirmed
Physical map
EPAS1 2p21-p26 endothelial PAS domain protein 1 LOC388945 2 LOC388945 LOC388946 2 LOC388946 ATP6V1E2 2p21 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2 ARHQ 2p21 ras homolog gene family, member Q PIGF 2p16 phosphatidylinositol glycan, class F CRIPT 2p21 phosphatidylinositol glycan, class F LOC388947 2 LOC388947 SOCS5 2p21 suppressor of cytokine signaling 5 LOC388948 2 hypothetical gene supported by BC062774 MCFD2 TTC7 2p21 tetratricopeptide repeat domain 7 FLJ40172 2p21 hypothetical protein FLJ40172 CALM2 2p21.3-p21.1 calmodulin 2 (phosphorylase kinase, delta) TACSTD1 2p21 tumor-associated calcium signal transducer 1 MSH2 2p22-p21 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) KCNK12 2p22-p21 potassium channel, subfamily K, member 12 LOC285053 2p21 similar to ribosomal protein L18a; 60S ribosomal protein L18a LOC391372 2 similar to Nucleoside diphosphate kinase B (NDK B) (NDP kinase B) (P18) MSH6 2p16 mutS homolog 6 (E. coli) FBXO11 2p21-p16 F-box only protein 11 HTLF 2p21 human T-cell leukemia virus enhancer factor LOC129285 2p21 smooth muscle myosin heavy chain 11 isoform SM1-like SALF 2p16.3 smooth muscle myosin heavy chain 11 isoform SM1-like SBLF 2p16.3 stoned B-like factor ALF 2p16.3 stoned B-like factor LHCGR 2p21 luteinizing hormone/choriogonadotropin receptor LOC391373 2 similar to C-terminal binding protein 2 isoform 2; ribeye FSHR 2p16 follicle stimulating hormone receptor LOC339793 2p21 similar to PRO1094 LOC130728 2p21 similar to 60S ribosomal protein L7 NRXN1 2p16.3 neurexin 1
TRANSCRIPTS type messenger
text showing distinct isoforms between ovarian cells and monocytes/osteoclasts (PMID: 20171950)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 splicing 2774 - 695 . major ovarian FSHR transcript 2012 22561017
  • precursor
  • isoform 1
  • 10 exons, nine of which are short and encode the extracellular domain, while a large tenth exon encodes the conserved transmembrane domain
  • 9 splicing 2696 - 669 . predominantly expressed in osteoclasts, and CD14+ osteoclast precursors 2012 22561017
  • precursor
  • isoform 2, FSHR2
  • slightly smaller size than the ovarian form, consistent with deletion of an exon, probably exon 9
  • 6 - - - - expressed at low levels, but were detected in cells from follicular fluid 2013 24009160
    retained only exons 1-6 of the full-length transcript
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovaryovarian follicle   Homo sapiens
     male systemtestis    Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegranulosa cell Homo sapiens
    ReproductiveSertoli cell Homo sapiens
    Skeletonosteoclast Homo sapiens
    cell lineage
    cell lines
    at STAGE
  • a large N terminal extracytoplasmic ectodomain (ECD), a large hormone-specific extracellular domain (AA 1-366), with leucine-rich repeats (LRRs; AA 18-259) connected to TMD by a hinge region, and segment 296-331 AAs acts as a tethered inverse agonist of the TMD and plays a very critical role in the hormonal activation of FSHR
  • nine leucine-rich repeat motifs, with a ligand-binding site of LRR-containing proteins that generally utilize extensive interface area and a large number of charged residues to facilitate high-affinity protein-protein interactions
  • a characteristic seven transmembrane segments (TMD AA 367-695)
  • a region 285-300 crucial for both FSH binding and cAMP generation
  • a C terminal cytoplasmic tail, serpentine region, implicated in transduction of the activation signal
  • extracellular domains were observed in the crystal structure as a trimer, which enabled us to propose a novel model for the receptor activation mechanism
  • mono polymer trimer
    isoforms Precursor
    interspecies homolog to murine Fshr
  • G-protein coupled receptor 1 family
  • FSH/LSH/TSH subfamily
  • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    text in females, levels of FSHR rise until the middle of the oestrus and then fall precipitously as LH triggers ovulation
    basic FUNCTION
  • follicle stimulating hormone receptor activity
  • might play a role in genetic susceptibility to polycystic ovary syndrome
  • FSH binds to FSHR on target cells in the ovary and testis, to regulate oogenesis and spermatogenesis, respectively
  • species-specific regulation of FSHR splicing plays diverse roles in mammalian ovarian function
  • roles of extragonadal FSHR in female reproductive physiology
  • participates in regulation of mesenchymal stem cells (MSCs) precursor pools in response to either FSH or HCG, integrating the effects of these two glycoprotein hormones
    PHYSIOLOGICAL PROCESS development , reproduction/sex
    text gonad development
    signaling hormonal , signal transduction
    a component
  • exists as a functional trimer
  • coexpression of the LHCGR and FSHR enables heterodimerizaton between the 2 gonadotropin receptors and results in an attenuation of signaling through each receptor
    small molecule
  • interacting with ARRB2
  • intimate association between AR expression in immature granulosa cells, and the expression of FSHR in normal small antral follicles and between the follicular fluid levels of androgen and FSHR expression
  • APPL1 is an interacting protein with FSHR
  • MTA2 is a potent corepressor of FSHR transcription, because it can recruit histone deacetylase-1 onto the FSHR promoter
  • cell & other
    induced by BMP6, in granulosa cells
    Other its expression is regulated distinctly in the osteoclast, and differently from other cells, such as the ovarian follicular and Leydig cells
    corresponding disease(s) ODG1 , OHSS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in ovarian sex cord tumors
    constitutional germinal mutation      
    leading to increased sensitivity to HCG and to development of spontaneous ovarian hyperstimulation syndrome
    tumoral     --over  
    may play a role in ovarian epithelial tumors development
  • to severe OHSS (ovarian hyperstimulation syndrome)
  • to polycystic ovary syndrome
  • Variant & Polymorphism other genotype in position 680 of the FSHR could be a predictor of severity of symptoms among OHSS patients
    Candidate gene
    Therapy target