IGFBP4
Chr 17insulin like growth factor binding protein 4
Also known as: BP-4, HT29-IGFBP, IBP4, IGFBP-4
The protein binds insulin-like growth factors I and II, prolonging their half-life and modulating their interaction with cell surface receptors to regulate growth-promoting effects. Mutations cause autosomal dominant short stature with accelerated skeletal maturation, affecting growth and bone development in childhood. The gene shows low constraint to loss-of-function variants, suggesting tolerance to reduced protein levels.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
48 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 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 1 | 0 | 0 | 1 |
VUS | 0 | 30 | 1 | 0 | 31 |
Likely Benign | 0 | 1 | 1 | 1 | 3 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 32 | 10 | 2 | 44 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IGFBP4 · 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