HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
INSL3
insulin like 3
Chromosome 19 Β· 19p13.11
NCBI Gene: 3640Ensembl: ENSG00000248099.4HGNC: HGNC:6086UniProt: P51460
128PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protease bindingpositive regulation of epithelial cell migrationpositive regulation of wound healingprotein bindingcryptorchidismgenetic disorderazoospermiapartial chromosome Y deletion
✦AI Summary

INSL3 is a peptide hormone of the insulin-relaxin family produced exclusively by fetal and postnatal Leydig cells in the testis 1. It serves as a constitutive marker of Leydig cell number and function, independent of hypothalamic-pituitary-gonadal axis regulation 2. During fetal development, INSL3 synthesis begins at weeks 7-8 post-coitum and acts through the G-protein-coupled receptor RXFP2 expressed on gubernacular mesenchymal cells to promote testicular descent, with particular importance during the first phase of descent by thickening the gubernaculum 1. Beyond reproduction, INSL3 regulates feeding through brain Lgr8 signaling; tumor-derived INSL3 induces cancer-associated anorexia by upregulating anorexigenic NUCB1 and downregulating orexigenic neuropeptides 3. INSL3 also influences musculoskeletal health through RXFP2 signaling 4. Disease relevance includes cryptorchidism, where reduced INSL3 and androgen signaling impair testicular descent 5, and primary ovarian insufficiency, where INSL3 mutations contribute to defective folliculogenesis 6. INSL3 functions as a biomarker for Leydig cell differentiation and may be reduced by maternal exposure to endocrine-disrupting chemicals 1. Clinically, INSL3 levels are increasingly recognized as diagnostic markers for testicular pathology beyond research applications 2.

Sources cited
1
INSL3 is produced by fetal Leydig cells, synthesis begins weeks 7-8, acts through RXFP2 receptor on gubernacular cells to promote testicular descent and serves as biomarker for Leydig cell differentiation
PMID: 35464060
2
INSL3 is constitutively secreted by Leydig cells independent of hypothalamic-pituitary axis and represents valid marker for Leydig cell number and status
PMID: 30793542
3
Tumor-derived INSL3 induces cancer anorexia by upregulating NUCB1 and downregulating orexigenic neuropeptides via Lgr8 receptor in brain
PMID: 33558728
4
INSL3/RXFP2 axis regulates musculoskeletal system function
PMID: 30625346
5
INSL3 and androgens have essential role in testicular descent; reduced INSL3 associated with cryptorchidism
PMID: 32010061
6
INSL3 mutations are implicated in primary ovarian insufficiency and defective folliculogenesis
PMID: 34794894
Disease Associationsβ“˜21
cryptorchidismOpen Targets
0.59Moderate
genetic disorderOpen Targets
0.34Weak
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
Testicular regression syndromeOpen Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
hypogonadotropic hypogonadism 11 with or without anosmiaOpen Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
ring chromosome YOpen Targets
0.07Suggestive
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiencyOpen Targets
0.07Suggestive
persistent Mullerian duct syndromeOpen Targets
0.07Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.07Suggestive
partial androgen insensitivity syndromeOpen Targets
0.07Suggestive
Persistent MΓΌllerian duct syndromeOpen Targets
0.07Suggestive
isochromosomy YqOpen Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
CryptorchidismUniProt
Pathogenic Variants7
NM_005543.4(INSL3):c.176_182del (p.Ala59fs)Likely pathogenic
Cryptorchidism
β˜…β˜†β˜†β˜†2025β†’ Residue 59
NM_005543.4(INSL3):c.143dup (p.Arg50fs)Likely pathogenic
Bilateral cryptorchidism
β˜…β˜†β˜†β˜†2023β†’ Residue 50
NM_005543.4(INSL3):c.148dup (p.Arg50fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2017β†’ Residue 50
NM_005543.4(INSL3):c.304C>T (p.Arg102Cys)Pathogenic
Cryptorchidism
β˜†β˜†β˜†β˜†2003β†’ Residue 102
NM_005543.4(INSL3):c.278C>T (p.Pro93Leu)Pathogenic
Cryptorchidism
β˜†β˜†β˜†β˜†2003β†’ Residue 93
NM_005543.4(INSL3):c.330C>G (p.Asn110Lys)Pathogenic
Cryptorchidism
β˜†β˜†β˜†β˜†2003β†’ Residue 110
NM_005543.4(INSL3):c.217C>T (p.Arg73Ter)Pathogenic
Cryptorchidism
β˜†β˜†β˜†β˜†2000β†’ Residue 73
View on ClinVar β†—
Related Genes
RXFP1Protein interaction100%HSD3B1Protein interaction100%INSL5Protein interaction99%RLN1Protein interaction99%RLN3Protein interaction99%RLN2Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
64%
Lung
22%
Brain
12%
Liver
11%
Heart
0%
Gene Interaction Network
Click a node to explore
INSL3RXFP1HSD3B1INSL5RLN1RLN3RLN2
PROTEIN STRUCTURE
Preparing viewer…
PDB2H8B Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.22 [0.70–1.87]
RankingsWhere INSL3 stands among ~20K protein-coding genes
  • #3,655of 20,598
    Most Researched128 Β· top quartile
  • #3,173of 5,498
    Most Pathogenic Variants7
  • #16,982of 17,882
    Most Constrained (LOEUF)1.87
Genes detectedINSL3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
1.00
2
AMH and INSL3 in testicular and extragonadal pathophysiology: what do we know?
PMID: 30793542
Andrology Β· 2019
0.90
3
Expression and Role of INSL3 in the Fetal Testis.
PMID: 35464060
Front Endocrinol (Lausanne) Β· 2022
0.80
4
Single-cell sequencing provides insights into the landscape of ovary in PCOS and alterations induced by CUMS.
PMID: 37584608
Am J Physiol Endocrinol Metab Β· 2023
0.70
5
Tumour-derived Dilp8/INSL3 induces cancer anorexia by regulating feeding neuropeptides via Lgr3/8 in the brain.
PMID: 33558728
Nat Cell Biol Β· 2021
0.60