INSL6 (Insulin Like 6)
A member of the insulin/relaxin family involved in male fertility and spermatogenesis.
Gene Information Card
| Symbol | INSL6 |
|---|---|
| Full Name | Insulin Like 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p24.1 |
| NCBI Gene ID | 11172 ncbi.nlm.nih.gov/gene/11172 |
| Ensembl ID | ENSG00000120279 |
| UniProt ID | Q9Y5P8 |
| OMIM ID | 606199 |
| HGNC ID | 6091 |
| Aliases | RLX6, RIF1, relaxin/insulin-like family peptide receptor 1 ligand |
Description
INSL6 (Insulin Like 6) is a member of the insulin/relaxin family of peptide hormones. It is predominantly expressed in the testis, specifically in germ cells, and plays a critical role in spermatogenesis and male fertility. The encoded preproprotein is processed to generate a mature, biologically active peptide that signals through G-protein-coupled receptors. INSL6 is essential for normal sperm development and maturation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia, oligozoospermia) | Disruption of INSL6 leads to impaired spermatogenesis and reduced sperm count. | OMIM #606199; mouse knockout models show infertility. |
| Testicular germ cell tumors | Altered INSL6 expression may contribute to tumorigenesis through disrupted paracrine signaling. | COSMIC; limited evidence from expression studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Prostate | 2.1 | Low |
| Fallopian tube | 1.5 | Low |
| Thyroid | 0.8 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | 35.0 | High expression in meiotic germ cells |
| Spermatids | 42.5 | High expression in post-meiotic cells |
| Sertoli cells | 0.5 | Not detected |
| Leydig cells | 0.4 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.214C>T (p.Arg72Cys) | missense | <0.01% | Uncertain significance; may affect disulfide bond formation |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or critical cysteine residues likely cause loss of function, leading to impaired spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported for INSL6.
Dominant Negative (DN)
No dominant-negative mutations reported for INSL6.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity (GO:0005179) | • extracellular region (GO:0005576) |
| • spermatogenesis (GO:0007283) | • response to insulin stimulus (GO:0032868) |
| • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• Relaxin signaling pathway (Reactome: R-HSA-444821)
• GPCR ligand binding (Reactome: R-HSA-500792)
Protein Summary
INSL6 is a 213-amino-acid preproprotein that undergoes proteolytic processing to yield a mature peptide with a characteristic insulin-like fold, including two disulfide bonds. It is secreted and acts as a ligand for relaxin family peptide receptors (RXFP1/RXFP2). The protein is highly conserved among mammals and is essential for male fertility, specifically for the progression of spermatogenesis beyond the meiotic phase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSL6 Knockout HEK293 Cell Line | EDJ-KQ7315 | Human | 11172 | Details Get a Quote |
| INSL6 Knockout HeLa Cell Line | EDJ-KQ55593 | Human | 11172 | Details Get a Quote |
| INSL6 Knockout A-549 Cell Line | EDJ-KQ64088 | Human | 11172 | Details Get a Quote |
| INSL6 Knockout HCT 116 Cell Line | EDJ-KQ72539 | Human | 11172 | Details Get a Quote |
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