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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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INSL4
insulin like 4
Chromosome 9 · 9p24.1
NCBI Gene: 3641Ensembl: ENSG00000120211.4HGNC: HGNC:6087UniProt: Q14641
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
cell-cell signalinginsulin-like growth factor receptor bindingGO:0005615signaling receptor bindingneurodegenerative diseasepsoriatic arthritisinsomniaulcerative colitis
✦AI Summary

INSL4 (insulin-like 4) is a primate-specific member of the insulin/relaxin superfamily with dual roles in placental development and pathological processes. Primarily, INSL4 functions in trophoblast development, where it is predominantly expressed in syncytiotrophoblast cells of the human placenta 1. The gene also regulates bone formation, with expression detected in the perichondrium and interbone ligaments of embryonic skeletal tissues 1. INSL4 expression is mediated by a human endogenous retrovirus (HERV) element in its promoter, enabling placenta-specific regulation during cytotrophoblast differentiation 2. Mechanistically, INSL4 is translated into pro-EPIL and mature EPIL peptides that signal through insulin-like growth factor receptors 3. Dysregulation of INSL4 has emerged as clinically significant in lung cancer pathogenesis. In LKB1-inactivated non-small cell lung cancer (NSCLC), INSL4 is aberrantly induced through CRTC-CREB signaling and sustains tumor growth and survival 4. High INSL4 expression correlates with advanced tumor stage, lymph node metastasis, and worse overall survival 4. Conversely, in fetal growth restriction, INSL4 expression is downregulated in dysfunctional placentas and is regulated by SIRT1, suggesting the SIRT1-INSL4 axis represents a therapeutic target 5.

Sources cited
1
INSL4 mRNA is most abundant in syncytiotrophoblast cells and expressed in perichondrium and interbone ligaments, indicating roles in trophoblast development and bone formation regulation
PMID: 9740319
2
INSL4 is a member of the insulin gene superfamily with expression in placenta and uterus, mapped to chromosome 9p24
PMID: 8666396
3
INSL4 mRNA is translated into pro-EPIL and EPIL peptides with differential expression between cytotrophoblast and syncytiotrophoblast
PMID: 9284764
4
INSL4 is primate-specific and its placenta-specific expression is mediated by a human endogenous retrovirus element in the promoter
PMID: 12606452
5
INSL4 is induced in LKB1-deficient NSCLC cells through CRTC-CREB activation and is required for tumor growth; high INSL4 correlates with advanced stage, lymph node metastasis, and worse survival
PMID: 30423141
6
INSL4 and SIRT1 are downregulated in fetal growth restriction placentas, with INSL4 regulated by SIRT1
PMID: 37661175
7
INSL4 expression shows inverse correlation with overall survival in NSCLC patients and promotes cell growth in some NSCLC cell lines
PMID: 34093787
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.22Weak
psoriatic arthritisOpen Targets
0.20Weak
insomniaOpen Targets
0.18Weak
ulcerative colitisOpen Targets
0.17Weak
clonal hematopoiesisOpen Targets
0.16Weak
polycythemia veraOpen Targets
0.15Weak
allergic rhinitisOpen Targets
0.14Weak
asthmaOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
inflammatory bowel diseaseOpen Targets
0.04Suggestive
cutaneous lupus erythematosusOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.03Suggestive
respiratory system diseaseOpen Targets
0.03Suggestive
myeloproliferative disorderOpen Targets
0.02Suggestive
laryngotracheoesophageal cleftOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FGFBP2Shared pathway100%FJX1Shared pathway100%GPR50Shared pathway100%RLN3Protein interaction99%RLN2Protein interaction98%INSL6Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Heart
0%
Ovary
0%
Bone Marrow
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
INSL4FGFBP2FJX1GPR50RLN3RLN2INSL6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14641
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.10 [0.62–1.82]
RankingsWhere INSL4 stands among ~20K protein-coding genes
  • #14,446of 20,598
    Most Researched19
  • #16,670of 17,882
    Most Constrained (LOEUF)1.82
Genes detectedINSL4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Insulin-like 4 (INSL4) gene expression in human embryonic and trophoblastic tissues.
PMID: 9740319
Mol Reprod Dev · 1998
1.00
2
Cloning of a new member of the insulin gene superfamily (INSL4) expressed in human placenta.
PMID: 8666396
Genomics · 1995
0.90
3
The INSL4 gene maps close to WI-5527 at 9p24.1-->p23.3 clustered with two relaxin genes and outside the critical region for the monosomy 9p syndrome.
PMID: 9730618
Cytogenet Cell Genet · 1998
0.80
4
Role of INSL4 Signaling in Sustaining the Growth and Viability of LKB1-Inactivated Lung Cancer.
PMID: 30423141
J Natl Cancer Inst · 2019
0.70
5
Sirtuin 1 is a potential therapeutic candidate gene for fetal growth restriction via insulin-like 4.
PMID: 37661175
J Matern Fetal Neonatal Med · 2023
0.60