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FLASH GENE
Symbol FSHB contributors: mct - updated : 11-10-2022
HGNC name follicle stimulating hormone, beta polypeptide
HGNC id 3964
Corresponding disease
HH24 hypogonadotropic hypogonadism 24 without anosmia
Location 11p14.1      Physical location : 30.252.562 - 30.256.823
Synonym name follitropin, beta chain
Synonym symbol(s) HH24
DNA
TYPE functioning gene
STRUCTURE 4.26 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site   enhancer
text structure
  • enhancer of FSHB contains a fertility-associated single nucleotide polymorphism (rs10031006) and requires a region resembling a full (8 base-pair) SMAD binding element (SBE)
    • MAPPING cloned Y linked N status confirmed
    Map pter - KCNA4 - D11S151 - D11S47 - FSHB - MPPED2 - D11S781 ,D11S16 - D11S315 - D11S312 - D11S112 ,D11S317 - D11S914 - D11S1322 - D11S995 - cen
    Authors Fantes (95), Gawin (95)
    RNA
    TRANSCRIPTS type messenger
    text
  • variants 1 and 2 encode the same protein
    • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 splicing 1936 - 129 - 2021 33009549
    3 splicing 1906 - 129 - 2021 33009549
    3 - 1856 - 129 - 2021 33009549
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Fshb
    ortholog to murine Fshb
    Homologene
    FAMILY
  • glycoprotein hormones beta chain family
    • CATEGORY signaling hormone
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    text
  • soluble fraction
    • basic FUNCTION
  • stimulating development of follicle and spermatogenesis in the reproductive organs
  • playing a crucial role in the regulation of fertility
  • conservative vertebrate gene with a unique function and it is located in a structurally stable gene-poor region
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , reproduction/sex
    text
  • ovarian follicle development
  • spermatogenesis
  • pregnancy
    • PATHWAY
    metabolism
    signaling hormonal
    a component
  • heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with FOXL2 (novel role for FOXL2 in activin A-regulated FSHB transcription)
  • expression of BRMS1L depends on CTNNB1 activity and contributes to FSHB induction by GNRH1
  • SMAD4 and FOXL2 are essential master regulators of FSHB transcription
  • SMAD4 and FOXL2 are master transcriptional mediators of activin signaling that act together and independently of GNRH to regulate FSHB gene expression and female fertility
  • FOXL2 and SMAD4 play essential roles in human FSHB expression
  • enhancer is directly targeted by activin signaling and activin and GNRH can regulate FSHB transcription
    • cell & other
    REGULATION
    activated by LHX3 LIM homeodomain transcription factor in the pituitary gonadotrope cell
    induced by Activin A, though weak on its own, synergized with GNRH1 to stimulate human FSHB promoter activity
    Other production of gonadotropin FSHB is modulated by positive transcription factors and negative corepressors with different pulse sensitivities
    SMAD4 participates in complexes with SMAD2 and SMAD3 to regulate FSHB expression
    testosterone regulates FSHB transcription, in part, through modulation of various components of the activin-signaling system
    ASSOCIATED DISORDERS
    corresponding disease(s) HH24
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    associated with azoospermia or suppressed spermatogenesis (
    Susceptibility to azoo-oligozoospermia
    Variant & Polymorphism SNP
  • FSHB-211 TT genotype was associated with significantly lower FSH levels, and seen in 25p100 of subjects with azoo-oligozoospermia
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • male mice feeding a short-term HFD induces Fshb synthesis and Ffar4 expression in their pituitary gonadotropes