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FLASH GENE
Symbol FSHR contributors: mct - updated : 10-01-2012
HGNC name follicle stimulating hormone receptor
HGNC id 3969
Corresponding disease
ODG1 ovarian dysgenesis, XX type
OHSS ovarian hyperstimulation syndrome
Location 2p16.3      Physical location : 49.189.295 - 49.381.666
Synonym name
  • FSH receptor
  • follitropin receptor
  • Synonym symbol(s) LGR1, FSHRO, MGC141667, MGC141668, FSH-R
    DNA
    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
    RNA
    TRANSCRIPTS type messenger
    text showing distinct isoforms between ovarian cells and monocytes/osteoclasts (PMID: 20171950)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 2774 - 695 - 2005 15662415
  • precursor
  • isoform 1
  • 9 splicing 2696 - 669 - 2005 15662415
  • precursor
  • isoform 2
  • EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovaryovarian follicle  
     male systemtestis   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegranulosa cell
    ReproductiveSertoli cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 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
  • isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Fshr
    Homologene
    FAMILY
  • 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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , reproduction/sex
    text gonad development
    PATHWAY
    metabolism
    signaling hormonal , signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • 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
    REGULATION
    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
    ASSOCIATED DISORDERS
    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
    Susceptibility
  • 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
    Marker
    Therapy target
    ANIMAL & CELL MODELS