GENE REFERENCE / HGNC:5466

IGF2

insulin like growth factor 2

protein-coding gene11p15.5Gene information

What does this gene do?

The IGF2 gene provides instructions for making a protein called insulin-like growth factor 2. This protein plays an essential role in growth and development before birth. Studies suggest that insulin-like growth factor 2 promotes the growth and division (proliferation) of cells in many different tissues. Although the IGF2 gene is highly active during fetal development, it is much less active after birth.

In most cases, people receive one copy of each gene from the egg cell and one copy from the sperm cell. Both copies are usually active, or "turned on," in cells. However, the activity of the IGF2 gene depends on whether the gene comes from the sperm cell or the egg cell. In most cases, only the IGF2 gene from the sperm cell is active. This parent-specific difference in gene activation is called genomic imprinting.

A nearby region of DNA regulates the genomic imprinting of the IGF2 gene and another gene, called H19, that is important for growth and development. This region is known as an imprinting center or imprinting control region. In a process known as methylation, small molecules called methyl groups are added to the imprinting center to regulate the activity of the IGF2 and H19 genes. Typically, only the copy of the IGF2 imprinting center that is derived from the sperm cell is methylated.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-03-04. Source review: 2025-03.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Silver-Russell syndrome 3MONDO:0014663 · Evaluated 2023-10-04	Autosomal dominant	DefinitiveSyndromic Disorders Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 264
Submissions for variants in or overlapping this gene: 337
Submissions explicitly reporting this gene: 257
Alleles reported pathogenic / likely pathogenic: 28
VariationIDs with uncertain significance: 127
VariationIDs with conflicting classifications: 10

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about IGF2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 28 alleles in IGF2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in IGF2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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