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FLASH GENE
Symbol INSL3 contributors: mct/npt - updated : 12-07-2018
HGNC name insulin-like 3 (Leydig cell)
HGNC id 6086
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a B-chain, a connecting C-peptide
  • an A-chain
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Insl3
    Homologene
    FAMILY
  • insulin-like superfamily
  • relaxin family
    • CATEGORY signaling hormone
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • regulating the growth and differentiation of the gubernaculum, thereby mediating intraabdominal testicular descent
  • has an important function in mediating male and female germ cell function
  • acts by binding to its specific G protein-coupled receptor RXFP2 (relaxin family peptide 2) and is involved in testicular descent during fetal development
  • may be having a role in bone metabolism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism
    signaling hormonal
    a component
  • heterodimer of a B and A chain linked by 2 disulfide bonds
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand of RXFP2 (activating the RXFP2 receptor important in testis descent)
  • interaction with RXFP2 (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)
  • EEF1AKNMT facilitates the INSL3 production in testicular Leydig cells that is essential for transabdominal testis migration
  • cooperation between the orphan nuclear receptors NR2F2 and NR5A1 in the regulation of INSL3 gene expression in Leydig cells
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to testicular maldescent (not major cause)
    Variant & Polymorphism other
    Candidate gene concentration in human amniotic fluid is potentially predictive of fetal sex and pre-eclampsia, and presumably reflects the functioning of the fetal Leydig cell population
    Marker
    Therapy target
    ANIMAL & CELL MODELS