INSL4
Chr 9insulin like 4
Also known as: EPIL, PLACENTIN
The insulin-like 4 protein functions in trophoblast development during early placental formation and regulates bone formation. No established disease associations have been reported for INSL4 mutations in current medical literature. This gene shows very low constraint against loss-of-function variants, suggesting that complete loss of function may be tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
215 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 155 | 0 | 155 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 34 | 9 | 0 | 43 |
Likely Benign | 0 | 4 | 2 | 0 | 6 |
Benign | 0 | 1 | 2 | 1 | 4 |
| Total | 0 | 39 | 175 | 1 | 215 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
INSL4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools