IGF2R (Insulin Like Growth Factor 2 Receptor)
A multifunctional receptor involved in lysosomal enzyme trafficking, growth factor regulation, and tumor suppression.
Gene Information Card
| Symbol | IGF2R |
|---|---|
| Full Name | Insulin Like Growth Factor 2 Receptor |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 3482 ncbi.nlm.nih.gov/gene/3482 |
| Ensembl ID | ENSG00000197081 |
| UniProt ID | P11717 |
| OMIM ID | 147280 |
| HGNC ID | 5470 |
| Aliases | MPR300, CI-MPR, M6P-R, MPR1, CD222 |
Description
The IGF2R gene encodes the insulin-like growth factor 2 receptor, a multifunctional transmembrane glycoprotein that binds insulin-like growth factor 2 (IGF2) and mannose-6-phosphate (M6P)-tagged proteins. It plays critical roles in lysosomal enzyme trafficking, growth factor clearance, and regulation of cell growth. IGF2R is also implicated in tumor suppression and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Loss of heterozygosity and reduced expression lead to increased IGF2 signaling and tumor progression. | Multiple studies, including those cited in COSMIC and NCBI. |
| Colorectal cancer | Somatic mutations and loss of expression contribute to IGF2-mediated proliferation. | COSMIC and ClinVar entries. |
| Breast cancer | Reduced IGF2R expression correlates with poor prognosis and increased IGF2 signaling. | Studies in NCBI and COSMIC. |
| Autosomal recessive deafness (DFNB66) | Mutations in IGF2R cause non-syndromic hearing loss. | ClinVar and OMIM. |
| Beckwith-Wiedemann syndrome (implicated) | Altered IGF2R imprinting may contribute to overgrowth phenotype. | OMIM and literature. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.2 | High |
| Heart | 8.1 | Medium |
| Brain | 6.4 | Medium |
| Lung | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 15.3 | High expression |
| A549 (lung cancer) | 7.8 | Moderate |
| MCF7 (breast cancer) | 9.2 | Moderate |
| K562 (leukemia) | 4.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167His) | Missense | Rare | Potential loss of function; associated with deafness. |
| c.2380C>T (p.Arg794Ter) | Nonsense | Rare | Truncated protein; likely loss of function. |
| Loss of heterozygosity (LOH) | Copy number loss | Common in cancers | Reduced expression, tumor suppressor inactivation. |
| c.1-? deletion | Deletion | Rare | Complete loss of function; severe phenotype. |
Mutation functional classification
Loss of Function (LOF)
Most IGF2R mutations are loss-of-function, leading to reduced receptor activity, impaired IGF2 clearance, and increased cell proliferation.
Gain of Function (GOF)
Gain-of-function mutations are rare and not well documented; no clear oncogenic gain-of-function has been established.
Dominant Negative (DN)
No dominant-negative effects have been reported for IGF2R mutations.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005520 (insulin-like growth factor binding) | • GO:0005537 (mannose-6-phosphate binding) |
| • GO:0005765 (lysosomal membrane) | • GO:0005886 (plasma membrane) |
| • GO:0006898 (receptor-mediated endocytosis) | • GO:0007040 (lysosome organization) |
| • GO:0010628 (positive regulation of gene expression) | • GO:0043066 (negative regulation of apoptotic process) |
Pathways
• Lysosome vesicle biogenesis
• IGF2 signaling pathway
• Endocytosis and receptor recycling
• Growth hormone/IGF axis
Protein Summary
The IGF2R protein is a large (~300 kDa) type I transmembrane receptor that cycles between the plasma membrane and endosomes. It binds IGF2 with high affinity, targeting it for lysosomal degradation, thereby limiting IGF2 signaling. It also binds M6P-tagged lysosomal enzymes, facilitating their transport to lysosomes. The receptor is involved in cell growth regulation, apoptosis, and immune responses. Its loss is associated with cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGF2R Knockout HEK293 Cell Line | EDJ-KQ2786 | Human | 3482 | Details Get a Quote |
| IGF2R Knockout A-549 Cell Line | EDJ-KQ23707 | Human | 3482 | Details Get a Quote |
| IGF2R Knockout HCT 116 Cell Line | EDJ-KQ23708 | Human | 3482 | Details Get a Quote |
| IGF2R Knockout HeLa Cell Line | EDJ-KQ23709 | Human | 3482 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
