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FLASH GENE
Symbol RXFP2 contributors: mct/npt - updated : 05-10-2010
HGNC name relaxin/insulin-like family peptide receptor 2
HGNC id 17318
Corresponding disease
CPTD cryptorchidism, unilateral or bilateral
Location 13q13.1      Physical location : 32.313.678 - 32.377.008
Synonym name
  • G protein coupled receptor affecting testicular descent
  • leucine-rich repeat-containing G protein-coupled receptor 8
  • relaxin family peptide receptor 2
  • G-protein coupled receptor 106
  • Synonym symbol(s) GREAT, GPR106, LGR8, INSL3R, LGR8.1, RXFPR2
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 63.33 kb     18 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 2803 86.5 754 - - PMID: 160516
    - - 2731 - 730 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  highly Homo sapiens
     male systemmale genital tractvas deferens highly Homo sapiens
    Visualeyelacrimal gland    Homo sapiens
     eyeanterior segmentconjunctiva   Homo sapiens
     eyeanterior segmentcornea   Homo sapiens
     eyepalpebra    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivedenseligamentgubernaculum (testis) 
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveSertoli cell
    Reproductivespermatid
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal extracellular domain, a low density lipoprotein receptor cysteine-rich motif, class A (LDL-A) module influencing receptor maturation, cell surface expression, and relaxin-activated signal transduction
  • 10 leucine rich repeat domains
  • one receptor class A domain
  • HOMOLOGY
    interspecies ortholog to murine Lgr8
    Homologene
    FAMILY
  • G-protein coupled receptor 1 family
  • CATEGORY signaling , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in G-protein coupled receptor protein signaling pathway
  • having a role in gubernaculum development involved in testicular descent
  • RXFP2 signaling pathway plays an important role in mediating androgen action to stimulate gubernaculum development during inguinoscrotal testis descent
  • RXFP1 and RXFP2 are unique in both the leucine-rich repeat-containing GPCR and GPCR family in that they have a low density lipoprotein receptor (LDLr) class A (LDLa) module at their N termini (pMID: 23926099)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with its ligand INSL3 for normal testicular descent
  • interaction with INSL3 (INSL3/RXFP2 primary binding site, including interactions between RXFP2 His-B12 and LGR8 Trp-177, INSL3 Val-B19 and RXFP2 Ile-179, and INSL3 Arg-B20 with RXFP2 Asp-181 and Glu-229) (Scott 2007)
  • relaxin binds to the LRRs of RXFP2 in a manner similar to INSL3 binding to its receptor )
  • cell & other
    REGULATION
    activated by INSL3 important in testis descent
    Other regulated by the LDLa module (essential role in RXFP2 and RXFP1 function)
    ASSOCIATED DISORDERS
    corresponding disease(s) CPTD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    associated with human osteoporosis
    Susceptibility to cryptorchidism
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • LH receptor knockout (LhrKO) male mice exhibit a bilateral cryptorchidism resulting from a developmental defect in the gubernaculum during the inguinoscrotal phase of testis descent, which is corrected by testosterone replacement therapy