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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IGF2R
insulin like growth factor 2 receptor
Chromosome 6 Β· 6q25.3
NCBI Gene: 3482Ensembl: ENSG00000197081.16HGNC: HGNC:5467UniProt: P11717
338PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosometrans-Golgi networklate endosomecargo receptor activitycoronary artery diseasehepatocellular carcinomaHypercholesterolemiaheart disease
✦AI Summary

IGF2R is a multifunctional membrane receptor with critical roles in lysosomal protein trafficking and growth factor signaling. Primary function involves mannose-6-phosphate (M6P)-mediated transport of phosphorylated lysosomal enzymes from the Golgi complex to lysosomes 1. The receptor binds M6P-tagged cargo in the Golgi apparatus and facilitates receptor-ligand complex transport to acidic prelysosomal compartments, where low pH triggers dissociation; the receptor then recycles via retromer complex binding 1. IGF2R also binds insulin-like growth factor 2 (IGF2), a ligand critical for synaptic plasticity and memory consolidation in the nervous system 2. Beyond canonical trafficking, IGF2R regulates T-cell coactivation through DPP4 binding and modulates microglial lysosomal function by interacting with CD22 3. Disease relevance is substantial: IGF2 deficits via IGF2R dysfunction associate with Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis 2. IGF2R also influences metabolic homeostasis, with gene polymorphisms and circulating IGF2R levels associated with type 2 diabetes susceptibility and insulin resistance 4. Clinically, IGF2R's endocytic capacity enables therapeutic exploitation through designed EndoTags for targeted protein degradation in cancer 5, while blocking IGF2-IGF2R interactions enhances oncolytic viral immunotherapy efficacy 6.

Sources cited
1
IGF2R mediates M6P-dependent transport of lysosomal enzymes from Golgi to lysosomes and recycles via retromer
PMID: 18817523
2
IGF2-IGF2R pathway regulates synaptic plasticity, memory, and is dysregulated in multiple neurodegenerative diseases
PMID: 37031050
3
IGF2R interacts with CD22 and regulates lysosomal protein trafficking and microglial function in Niemann-Pick type C disease
PMID: 34851695
4
IGF2R gene polymorphisms and circulating IGF2R levels are associated with type 2 diabetes and insulin resistance
PMID: 25922844
5
IGF2R can be exploited therapeutically for endocytosis-induced protein degradation and cellular targeting
PMID: 39322662
6
IGF2-IGF2R interaction contributes to oncolytic virus resistance; blocking this interaction enhances anti-tumor immunity
PMID: 38853689
Disease Associationsβ“˜20
coronary artery diseaseOpen Targets
0.51Moderate
hepatocellular carcinomaOpen Targets
0.50Moderate
HypercholesterolemiaOpen Targets
0.45Moderate
heart diseaseOpen Targets
0.40Weak
myocardial infarctionOpen Targets
0.38Weak
metabolic diseaseOpen Targets
0.34Weak
angina pectorisOpen Targets
0.34Weak
coronary atherosclerosisOpen Targets
0.32Weak
Myocardial IschemiaOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.30Weak
hypertrophic cardiomyopathyOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.27Weak
primary ovarian insufficiencyOpen Targets
0.27Weak
hyperlipidemiaOpen Targets
0.25Weak
injuryOpen Targets
0.25Weak
diabetic ketoacidosisOpen Targets
0.24Weak
cardiovascular diseaseOpen Targets
0.20Weak
dyspepsiaOpen Targets
0.20Weak
familial hyperlipidemiaOpen Targets
0.13Weak
Beckwith-Wiedemann syndromeOpen Targets
0.12Weak
Pathogenic Variants4
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs)Likely pathogenic
Hepatocellular carcinoma
β˜…β˜†β˜†β˜†2020β†’ Residue 18
NM_000876.4(IGF2R):c.451C>T (p.His151Tyr)Likely pathogenic
Premature ovarian failure
β˜…β˜†β˜†β˜†2020β†’ Residue 151
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val)Pathogenic
Hepatocellular carcinoma
β˜†β˜†β˜†β˜†2017β†’ Residue 1449
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu)Pathogenic
Hepatocellular carcinoma
β˜†β˜†β˜†β˜†2017β†’ Residue 1464
View on ClinVar β†—
Related Genes
SNX5Protein interaction100%SNX6Protein interaction99%GGA3Protein interaction99%INSProtein interaction98%GGA1Protein interaction96%GGA2Protein interaction91%
Tissue Expression6 tissues
Lung
100%
Heart
61%
Liver
59%
Ovary
48%
Brain
35%
Bone Marrow
24%
Gene Interaction Network
Click a node to explore
IGF2RSNX5SNX6GGA3INSGGA1GGA2
PROTEIN STRUCTURE
Preparing viewer…
PDB1GP0 Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.35 [0.29–0.42]
RankingsWhere IGF2R stands among ~20K protein-coding genes
  • #954of 20,598
    Most Researched338 Β· top 5%
  • #3,679of 5,498
    Most Pathogenic Variants4
  • #2,220of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedIGF2R
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
IGF2 in memory, neurodevelopmental disorders, and neurodegenerative diseases.
PMID: 37031050
Trends Neurosci Β· 2023
1.00
2
Designed endocytosis-inducing proteins degrade targets and amplify signals.
PMID: 39322662
Nature Β· 2025
0.90
3
Targeting IGF2 to reprogram the tumor microenvironment for enhanced viro-immunotherapy.
PMID: 38853689
Neuro Oncol Β· 2024
0.80
4
Revisiting LAMP1 as a marker for degradative autophagy-lysosomal organelles in the nervous system.
PMID: 29940787
Autophagy Β· 2018
0.70
5
IL-33-Induced TREM2
PMID: 40091508
Adv Sci (Weinh) Β· 2025
0.64