INSL4 (Insulin Like 4)
A member of the insulin/relaxin superfamily with roles in placental development and potential implications in cancer.
Gene Information Card
| Symbol | INSL4 |
|---|---|
| Full Name | Insulin Like 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p24.1 |
| NCBI Gene ID | 3641 ncbi.nlm.nih.gov/gene/3641 |
| Ensembl ID | ENSG00000120211 |
| UniProt ID | Q14641 |
| OMIM ID | 600820 |
| HGNC ID | 6090 |
| Aliases | EPIL, PLACENTAL INSULIN-LIKE PEPTIDE, INSL4 |
Description
INSL4 (Insulin Like 4) is a protein-coding gene belonging to the insulin/relaxin superfamily. It encodes a peptide hormone primarily expressed in the placenta, where it is thought to play a role in fetal growth and development. The protein is structurally similar to insulin and relaxin, and it signals through the relaxin family peptide receptors. INSL4 has also been studied in the context of cancer, where its expression may be altered.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pre-eclampsia | Altered placental INSL4 expression may contribute to impaired trophoblast invasion and placental dysfunction. | PMID: 10862799 |
| Gestational Trophoblastic Disease | Elevated INSL4 expression has been reported in hydatidiform mole and choriocarcinoma. | PMID: 10652318 |
| Breast Cancer | INSL4 expression is upregulated in some breast cancer cell lines and tissues, potentially promoting cell proliferation. | PMID: 12629541 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | High |
| Uterus | 0.3 | Low |
| Prostate | 0.1 | Low |
| Testis | 0.1 | Low |
| Thyroid | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BeWo (choriocarcinoma) | 15.2 | High expression; placental trophoblast model |
| JEG-3 (choriocarcinoma) | 10.8 | Moderate expression |
| MCF-7 (breast cancer) | 2.1 | Low expression |
| HeLa (cervical cancer) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; functional impact unknown |
| c.214C>T (p.Arg72Cys) | Missense | Rare | Substitution in conserved region; significance uncertain |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations have been reported in INSL4.
Gain of Function (GOF)
No gain-of-function mutations have been described for INSL4.
Dominant Negative (DN)
No dominant-negative mutations are known for INSL4.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity | • insulin-like growth factor receptor binding |
| • extracellular region | • positive regulation of cell proliferation |
| • female pregnancy |
Pathways
• Relaxin signaling pathway
• Insulin/IGF pathway - protein kinase B signaling cascade
Protein Summary
The INSL4 protein is a 139-amino-acid prepropeptide that is processed to a mature, two-chain peptide (A and B chains) linked by disulfide bonds. It shares structural homology with insulin and relaxin. The protein is secreted and acts as a ligand for the relaxin family peptide receptors (RXFP1 and RXFP2), though its specific receptor affinity is lower than that of relaxin. INSL4 is thought to regulate trophoblast invasion and placental angiogenesis during pregnancy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSL4 Knockout HEK293 Cell Line | EDJ-KQ5001 | Human | 3641 | Details Get a Quote |
| INSL4 Knockout A-549 Cell Line | EDJ-KQ27901 | Human | 3641 | Details Get a Quote |
| INSL4 Knockout HeLa Cell Line | EDJ-KQ27902 | Human | 3641 | Details Get a Quote |
| INSL4 Knockout HCT 116 Cell Line | EDJ-KQ70632 | Human | 3641 | Details Get a Quote |
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