IGF2
Chr 11ADinsulin like growth factor 2
Also known as: C11orf43, GRDF, IGF-II, PP9974, SRS3
The protein encoded by this gene is insulin-like growth factor 2, a major fetal growth hormone that regulates fetoplacental development and tissue differentiation, and in adults is involved in glucose metabolism in adipose tissue, skeletal muscle and liver. Mutations cause Silver-Russell syndrome 3, characterized by growth restriction, with autosomal dominant inheritance. This is an imprinted gene expressed only from the paternal allele, and the gene shows tolerance to loss-of-function variants (pLI 0.04).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IGF2 · 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
Growth and Development-related Outcomes in Children With Transfusion-dependent Beta-thalassemia After Gene Therapy
RECRUITINGKlinefelter Syndrome and Testosterone Treatment in Puberty
RECRUITINGExternal Resources
Links to major genomics databases and tools