IGF2BP3 (IMP3): RNA-Binding Oncofetal Protein and Cancer Biomarker
A comprehensive biomedical overview of IGF2BP3, including gene structure, expression, disease associations, mutations, and functional roles.
Gene Information Card
| Symbol | IGF2BP3 |
|---|---|
| Full Name | Insulin Like Growth Factor 2 MRNA Binding Protein 3 |
| Gene Type | protein coding |
| Chromosomal Location | 7p15.3 |
| NCBI Gene ID | 10643 ncbi.nlm.nih.gov/gene/10643 |
| Ensembl ID | ENSG00000136231 |
| UniProt ID | O00425 |
| OMIM ID | 608259 |
| HGNC ID | 28868 |
| Aliases | IMP3, KOC1, VICKZ3 |
Description
IGF2BP3 encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. This protein functions as a post-transcriptional regulator, binding to specific mRNAs and influencing their stability, localization, and translation. It is an oncofetal protein, highly expressed during embryogenesis and in various cancers, but with limited expression in adult tissues. IGF2BP3 is implicated in cell proliferation, migration, and invasion, making it a potential diagnostic and prognostic biomarker.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression promotes tumor growth and metastasis via mRNA stabilization of oncogenic transcripts (e.g., MYC, CD44). | High expression in pancreatic, colorectal, lung, breast, and ovarian cancers; associated with poor prognosis (COSMIC, literature). |
| Neurodevelopmental disorders | Altered expression may affect neuronal mRNA transport and translation, contributing to intellectual disability or autism spectrum disorders. | Rare variants reported in ClinVar; functional studies limited. |
| IGF2BP3-related syndrome | Germline mutations may cause a syndromic disorder with developmental delay and dysmorphic features. | Case reports in ClinVar; not yet fully characterized. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 8.2 | Low |
| Kidney | 5.1 | Low |
| Liver | 2.3 | Low |
| Brain | 1.8 | Low |
| Lung | 1.2 | Low |
| Heart | 0.8 | Not detected |
| Skeletal Muscle | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical carcinoma; high expression |
| MCF7 | 12.8 | Breast carcinoma; high expression |
| A549 | 9.4 | Lung carcinoma; moderate expression |
| HepG2 | 6.2 | Hepatocellular carcinoma; moderate expression |
| K562 | 3.1 | Chronic myeloid leukemia; low expression |
| Jurkat | 1.5 | T-cell leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (COSMIC) | Potential impact on RNA-binding affinity; functional significance unknown. |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% (COSMIC) | May affect protein stability; not yet validated. |
| c.890_891insA (frameshift) | Insertion | 0.002% (COSMIC) | Predicted to cause loss of function; rare in cancer. |
| c.234G>A (p.Trp78Ter) | Nonsense | 0.001% (COSMIC) | Truncated protein; likely loss of function. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein are classified as loss-of-function. These are rare and may contribute to developmental phenotypes.
Gain of Function (GOF)
Missense mutations that enhance RNA-binding or protein stability could act as gain-of-function, promoting oncogenic activity. However, such variants are not well-characterized.
Dominant Negative (DN)
No evidence for dominant-negative effects; IGF2BP3 functions as a monomer, and mutations are typically recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA 3'-UTR binding |
| • mRNA 5'-UTR binding | • translation regulator activity |
| • mRNA stabilization | • cytoplasmic mRNA processing body |
| • stress granule | • regulation of translation |
| • cell proliferation | • cell migration |
Pathways
• Insulin-like growth factor signaling
• mRNA surveillance
• Regulation of mRNA stability by proteins that bind AU-rich elements
• Oncogenic MAPK signaling (via mRNA targets)
Protein Summary
IGF2BP3 is a 579-amino acid RNA-binding protein containing six RNA-binding domains (two RRM and four KH domains). It binds to the 3' and 5' UTRs of target mRNAs, protecting them from degradation and regulating their translation. It is predominantly cytoplasmic and localizes to stress granules and P-bodies. IGF2BP3 is highly expressed during embryogenesis and in many cancers, where it promotes cell proliferation, invasion, and metastasis. Its expression is low in normal adult tissues, making it an attractive target for cancer therapy and a biomarker for diagnosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGF2BP3 Knockout HEK293 Cell Line | EDJ-KQ108 | Human | 10643 | Details Get a Quote |
| IGF2BP3 Knockout A-549 Cell Line | EDJ-KQ42355 | Human | 10643 | Details Get a Quote |
| IGF2BP3 Knockout HCT 116 Cell Line | EDJ-KQ43626 | Human | 10643 | Details Get a Quote |
| IGF2BP3 Knockout HeLa Cell Line | EDJ-KQ43627 | Human | 10643 | Details Get a Quote |
| IGF2BP3 Knockout ACHN Cell Line | EDJ-KZ295 | Human | 10643 | Details Get a Quote |
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