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FLASH GENE
Symbol INSL3 contributors: mct/npt - updated : 12-07-2008
HGNC name insulin-like 3 (Leydig cell)
HGNC id 6086
DNA
TYPE functioning gene
STRUCTURE 5.07 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
NR2F6 19p13.1 nuclear receptor subfamily 2, group F, member 6 MCC2 19p13 nuclear receptor subfamily 2, group F, member 6 HSPC142 19p13.12 HSPC142 protein FLJ39369 19p13.12 hypothetical protein FLJ39369 ABHD8 19p13.12 abhydrolase domain containing 8 MRPL34 19p13.1 mitochondrial ribosomal protein L33 MGC2594 19p13.12 hypothetical protein MGC2594 KIAA1623 19p13.12 KIAA1623 GTPBP3 19p13.12 GTP binding protein 3 (mitochondrial) PLVAP 19p13.2 plasmalemma vesicle associated protein BST2 19p13.2 bone marrow stromal cell antigen 2 LOC93343 19p13.12 hypothetical protein BC011840 LOC115861 19p13.12 hypothetical protein BC014127 SLC27A1 19p13.1 solute carrier family 27 (fatty acid transporter), member 1 PGLS 19p13.2 6-phosphogluconolactonase BCNP1 19p13.12 B-cell novel protein 1 FLJ22329 19p13.12 hypothetical protein FLJ22329 UNC13A 19p13.12 unc-13 homolog A (C. elegans) VCY2IP1 19p13.12 VCY2 interacting protein 1 KIAA0290 B3GNT3 19p13.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 INSL3 19p13.1-p12 insulin-like 3 (Leydig cell) JAK3 19p13.1 Janus kinase 3 (a protein tyrosine kinase, leukocyte) RPL18A 19p13 ribosomal protein L18a SLC5A5 19p13.2-p12 solute carrier family 5 (sodium iodide symporter), member 5 LOC115098 19p13.12 hypothetical protein BC013949 KCNN1 19p13.1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 CLONE24945 LOC284438 19p13.12 similar to Citrate synthase, mitochondrial precursor LOC126358 19p13.12 similar to apolipoprotein A-I binding protein; apoA-I binding protein LOC390897 19 similar to ribosomal protein S18 IL12RB1 19p13.1 interleukin 12 receptor, beta 1 KIAA0561 PIK3R2 19q13.2-q13.4 phosphoinositide-3-kinase, regulatory subunit, polypeptide 2 (p85 beta) IFI30 19p13.1 interferon, gamma-inducible protein 30 MGC12972 19p13.11 hypothetical protein MGC12972 RAB3A 19p13.1 RAB3A, member RAS oncogene family PDE4C 19P13.1 phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 810 14.5 131 - Anand-Ivell (2008)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemovary   
 male systemtestis   
cells
SystemCellPubmedSpeciesStageRna symbol
ReproductiveLeydig cell
Reproductivelutein cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text leydig cells, trophoblast, membrane, only detectable in amniotic fluid from male fetuses, and highest levels occurred from weeks 15-17 of gestation
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)
  • 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