IGF2R
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Also known as CD222MPRIMPR1CIMPRM6P-RCI-M6PRCI-MPRMPR300
Summary
IGF2R (insulin like growth factor 2 receptor, HGNC:5467) is a protein-coding gene on chromosome 6q25.3, encoding Cation-independent mannose-6-phosphate receptor (P11717). Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes.
This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611).
Source: NCBI Gene 3482 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 395 total — 2 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 4
- Druggable target: yes
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_000876
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5467 |
| Approved symbol | IGF2R |
| Name | insulin like growth factor 2 receptor |
| Location | 6q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD222, MPRI, MPR1, CIMPR, M6P-R, CI-M6PR, CI-MPR, MPR300 |
| Ensembl gene | ENSG00000197081 |
| Ensembl biotype | protein_coding |
| OMIM | 147280 |
| Entrez | 3482 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 5 retained_intron, 3 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000356956, ENST00000475584, ENST00000475834, ENST00000487607, ENST00000569097, ENST00000649737, ENST00000650503, ENST00000676781, ENST00000677628, ENST00000677704, ENST00000678224
RefSeq mRNA: 1 — MANE Select: NM_000876
NM_000876
CCDS: CCDS5273
Canonical transcript exons
ENST00000356956 — 48 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001086758 | 160096439 | 160096625 |
| ENSE00001086759 | 160045745 | 160045882 |
| ENSE00001086760 | 160010687 | 160010785 |
| ENSE00001086761 | 160009010 | 160009134 |
| ENSE00001086762 | 160071910 | 160072036 |
| ENSE00001086764 | 160048375 | 160048543 |
| ENSE00001086767 | 160064804 | 160064901 |
| ENSE00001086768 | 160027185 | 160027314 |
| ENSE00001086769 | 160024572 | 160024704 |
| ENSE00001086771 | 160047792 | 160047907 |
| ENSE00001086772 | 160043148 | 160043288 |
| ENSE00001086773 | 160073213 | 160073469 |
| ENSE00001086774 | 160044514 | 160044657 |
| ENSE00001086779 | 159991184 | 159991323 |
| ENSE00001086780 | 160061753 | 160061928 |
| ENSE00001086781 | 160050473 | 160050652 |
| ENSE00001086782 | 160075847 | 160075996 |
| ENSE00001086784 | 160034419 | 160034522 |
| ENSE00001086785 | 160073757 | 160073975 |
| ENSE00001086788 | 160058906 | 160059098 |
| ENSE00001086789 | 160060547 | 160060717 |
| ENSE00001086790 | 160040560 | 160040724 |
| ENSE00001086791 | 160032551 | 160032713 |
| ENSE00001086793 | 160068249 | 160068385 |
| ENSE00001086796 | 160062532 | 160062619 |
| ENSE00001086798 | 160029550 | 160029655 |
| ENSE00001086799 | 160063415 | 160063630 |
| ENSE00001086846 | 160069868 | 160070058 |
| ENSE00001086847 | 160079580 | 160079787 |
| ENSE00001086848 | 160064401 | 160064531 |
| ENSE00001086849 | 160032942 | 160033107 |
| ENSE00001086850 | 160056424 | 160056525 |
| ENSE00001086853 | 160072765 | 160072884 |
| ENSE00001086855 | 160083950 | 160084184 |
| ENSE00001086857 | 160089916 | 160090103 |
| ENSE00001086858 | 160084995 | 160085131 |
| ENSE00001086859 | 160080129 | 160080275 |
| ENSE00001086860 | 160058023 | 160058124 |
| ENSE00001086861 | 160061503 | 160061646 |
| ENSE00001086863 | 160078201 | 160078362 |
| ENSE00001375794 | 159969082 | 159969395 |
| ENSE00003522053 | 160088033 | 160088147 |
| ENSE00003522992 | 160046498 | 160046645 |
| ENSE00003553399 | 160102519 | 160102671 |
| ENSE00003594053 | 160047159 | 160047336 |
| ENSE00003604815 | 160103746 | 160103815 |
| ENSE00003681685 | 160089107 | 160089253 |
| ENSE00003690118 | 160104674 | 160111504 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 98.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 75.6349 / max 2434.8181, expressed in 1819 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 71003 | 70.9551 | 1817 |
| 71002 | 3.8772 | 1578 |
| 204277 | 0.8026 | 546 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 98.02 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.11 | gold quality |
| granulocyte | CL:0000094 | 97.08 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.65 | gold quality |
| muscle of leg | UBERON:0001383 | 96.64 | gold quality |
| blood | UBERON:0000178 | 96.13 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.99 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.34 | gold quality |
| leukocyte | CL:0000738 | 95.31 | gold quality |
| muscle organ | UBERON:0001630 | 95.24 | gold quality |
| monocyte | CL:0000576 | 95.09 | gold quality |
| mononuclear cell | CL:0000842 | 95.06 | gold quality |
| spleen | UBERON:0002106 | 94.74 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.62 | gold quality |
| upper lobe of lung | UBERON:0008948 | 94.60 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.49 | gold quality |
| right lung | UBERON:0002167 | 94.45 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.36 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.33 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.27 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.16 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.08 | gold quality |
| adrenal gland | UBERON:0002369 | 94.08 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.02 | gold quality |
| adrenal cortex | UBERON:0001235 | 94.01 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 93.99 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.97 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.94 | gold quality |
| omental fat pad | UBERON:0010414 | 93.87 | gold quality |
| peritoneum | UBERON:0002358 | 93.83 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 19.76 |
| E-ANND-3 | yes | 12.12 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): IFNG, MYC, USF1, USF2
miRNA regulators (miRDB)
238 targeting IGF2R, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- SNPs in American and Japanese populations (PMID:11438990)
- Contribution of residues A54 and L55 of the human insulin-like growth factor-II (IGF-II) A domain to Type 2 IGF receptor binding specificity (PMID:11811790)
- The 1.4 A resolution crystal structure of domain 11 was solved using the anomalous scattering signal of sulfur. It consists of two crossed beta-sheets forming a flattened beta-barrel with a putative IGF-II binding site is at one end. (PMID:11867533)
- cDNA probes were used to analyze the gene expression of IGF type 2 receptor in luteinized granulosa cells from different-sized follicles after ovarian hyperstimulation. (PMID:12005306)
- blocks apoptosis induced by herpes simplex virus 1 mutants lacking glycoprotein D and is likely the target of antiapoptotic activity of the glycoprotein. (PMID:12021353)
- Autocrine production of IGF-I and IGF-II may via IGF-IR play a significant role in the growth and megakaryocytic differentiation of K562 cells. (PMID:12127559)
- Results suggest that M6P/IGF2R functions as a growth suppressor and its loss or mutation may contribute to development and progression of cancer. (PMID:12149131)
- Results suggest that a defect in a post-transcriptional process may exist during synthesis of the M6P/IGF2R in breast cancer cells, leading to failure to express sufficient functional M6P/IGF2R and resulting in the hypersecretion of procathepsin D. (PMID:12165733)
- 1,25(OH)(2)D(3) treatment of Caco-2 cells results in activation of latent TGF-beta 1 facilitated by the enhanced expression of IGF-II receptor (PMID:12223346)
- findings are consistent with the hypothesis that the insulin-like growth factor-II/mannose 6-phosphate receptor suppresses tumor growth (PMID:12399424)
- data suggest that the insulin-like growth factor-II- and Mannose-6-Phosphate-binding functions of the insulin-like growth factor 2 receptor have opposing activities, with respect to growth of prostate cancer cells (PMID:12586773)
- IGF-IR and IGF-IIR antisense genes could significantly restrain the malignant behavior of human hepatoma cells and might be useful in investigating a potential route for hepatocellular carcinoma gene therapy. (PMID:12603530)
- the interaction between uPAR and Man-6-P/IGF2R is a low percentage binding event and that suPAR and full-length uPAR bind the Man-6-P/IGF2R by different mechanisms. (PMID:12665524)
- M6P/IGF2R may be involved in HBV-associated hepatocarcinogenesis by the regulation of its expression level. (PMID:12736721)
- defect in USF function may contribute to down-regulation of IGF2R expression in cancer cells. (PMID:12857727)
- neutralization of serum IGF-II by sCIMPR plays a major role in IL-6-type cytokine-dependent cell proliferation. (PMID:12959977)
- The insulin-like growth factor receptor (IGF-IR) disruption may constitute an effective tool for the control of neovascularization (PMID:14710346)
- Review delineates what is currently known about IGF-II/M6P receptor structure, its ligand binding properties and role in lysosomal enzyme transport. It also summarizes the recent data regarding the role of the receptor in the central nervous system. (PMID:15003389)
- Nay play a direct role in tumour suppression or an indirect role as a transporter for ligands designated for degradation in the lysosomes. (review) (PMID:15156403)
- Increased frequency of the cation dependent-MPR C-allele in patients with major depression, but no involvement in Alzheimer disease noted. (PMID:15167696)
- The levels of protein products of IGFR2 arwe correlated with paramateres of birth size. (PMID:15506681)
- the gly1619arg single nucleotide polymorphism of the IGF2R gene is associated with disparity in childhood stature which could reflect altered binding of IGF-II to its receptor (PMID:16172012)
- Data show that endothelial cells express CD222 and CD87 in a membrane complex and demonstrate that the association of these two receptors is essential for the release of active TGF-beta. (PMID:16179614)
- Loss of heterozygosity of M6P/IGF2R gene is an early event in the development of prostate cancer (PMID:16304558)
- The ACAA-insertion/deletion polymorphism at the 3’ untranslated region of IGFIIR is associated with type 2 diabetes and influences surrogate markers of insulin resistance in non-diabetic subjects (PMID:16868148)
- CK2-activated phosphorylation cascade controlling PACS-1- and GGA3-mediated CI-MPR sorting, is reported. (PMID:16977309)
- We propose that the CIMPR luminal domain is required for tight interaction with endocytic compartments, and retention by them, and that there are additional transport steps, in which the binding to M6P-ligands is involved. (PMID:17069798)
- These observations indicate that the mammalian retromer complex assembles by sequential association of SNX1/2 and Vps26-Vps29-Vps35 subcomplexes on endosomal membranes and that SNX1 and SNX2 play interchangeable but essential roles. (PMID:17101778)
- Moreover, these M6P/IGF2R 3’UTR mutations and the TP53 mutations detected previously were mutually exclusive in most of the tumors, suggesting two independent pathways to HCC development. (PMID:17149973)
- There was a significant difference in birth weight among the three neonatal c901C>G genotypes of the insulin-like growth factor 2 receptor gene, indicating that the gene variant is associated with fetal growth. (PMID:17407457)
- novel binding surface on IGF-II critical for IGF2R binding (PMID:17475626)
- Data show that insulin-like growth factor II receptor-mediated intracellular retention of cathepsin B is essential for transformation of endothelial cells by Kaposi’s sarcoma-associated herpesvirus. (PMID:17507477)
- that endogenous IGF-1 and IGF-2 receptors can independently initiate ERK1/2 signaling and point to a potential physiologic role for IGF-2 receptors in the cellular response to IGF-2 (PMID:17620336)
- Alterations in TGF-betaRII, BAX, IGFIIR, caspase-5, hMSH3 and hMSH6 genes of microsatellite instability are rare in urinary bladder carcinoma and they are not associated with microsatellite instability or the presence of p53 mutations. (PMID:17676485)
- This pilot study of germ-line genetic variation in growth pathway genes and osteosarcoma identified a haplotype block in IGF2R associated with increased risk of osteosarcoma. (PMID:17684144)
- models reveal that the molecular interaction is driven by critical hydrophobic residues on IGF2 and IGF2R, while a ring of flexible, charged residues on IGF2R may modulate binding (PMID:17850746)
- Domain 5 of the cation-independent mannose 6-phosphate receptor preferentially binds phosphodiesters. (PMID:17927214)
- IGF2R-A2/B2 variant probably provides a selective advantage for non-small cell lung cancer progression through increased tumor growth. (PMID:18037232)
- Underlying gene defects in Fanconi Syndrome may disrupt membrane trafficking of cation-independent-mannose-6-P-receptor, leading to mistrafficking of lysosomal enzymes via a default pathway from the Golgi to the apical surface of proximal tubule cells. (PMID:18174267)
- M6P/IGF2R loss of heterozygosity predicts poor clinical outcomes in surgically resected primary hepatocellular carcinoma patients. (PMID:18322954)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | igf2r | ENSDARG00000006094 |
| mus_musculus | Igf2r | ENSMUSG00000023830 |
| rattus_norvegicus | Igf2r | ENSRNOG00000014997 |
| drosophila_melanogaster | Lerp | FBGN0051072 |
Protein
Protein identifiers
Cation-independent mannose-6-phosphate receptor — P11717 (reviewed: P11717)
Alternative names: 300 kDa mannose 6-phosphate receptor, Insulin-like growth factor 2 receptor, Insulin-like growth factor II receptor, M6P/IGF2 receptor
All UniProt accessions (5): A0A7I2V381, A0A7I2V657, A0A7I2YQS7, P11717, S4R328
UniProt curated annotations — full annotation on UniProt →
Function. Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex. The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation by binding DPP4.
Subunit / interactions. Binds HA-I and HA-II plasma membrane adapters. Interacts with DPP4; the interaction is direct. Binds GGA1, GGA2 and GGA3. Interacts with the heterotrimeric retromer cargo-selective complex (CSC), formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35; which is involved in retrograde trafficking of the receptor from endosomes to the Golgi apparatus. Interacts with SNX32; the interaction is involved in intracellular trafficking of the receptor.
Subcellular location. Golgi apparatus membrane. Endosome membrane.
Post-translational modifications. Palmitoylated. Undergoes cysteine S-palmitoylation which promotes interaction with the retromer cargo-selective complex which mediates its retrograde trafficking to the Golgi apparatus.
Domain organisation. Contains 15 repeating units of approximately 147 AA harboring four disulfide bonds each. The most highly conserved region within the repeat consists of a stretch of 13 AA that contains cysteines at both ends.
Similarity. Belongs to the MRL1/IGF2R family.
RefSeq proteins (1): NP_000867* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000479 | CIMR_rpt | Repeat |
| IPR000562 | FN_type2_dom | Domain |
| IPR009011 | Man6P_isomerase_rcpt-bd_dom_sf | Homologous_superfamily |
| IPR013806 | Kringle-like | Homologous_superfamily |
| IPR036943 | FN_type2_sf | Homologous_superfamily |
| IPR044865 | MRH_dom | Domain |
Pfam: PF00040, PF00878
UniProt features (374 total): strand 172, disulfide bond 59, helix 29, turn 27, sequence variant 25, glycosylation site 18, domain 15, sequence conflict 15, modified residue 5, compositionally biased region 3, topological domain 2, signal peptide 1, chain 1, region of interest 1, transmembrane region 1
Structure
Experimental structures (PDB)
24 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1GP0 | X-RAY DIFFRACTION | 1.4 |
| 6Z30 | X-RAY DIFFRACTION | 1.5 |
| 1E6F | X-RAY DIFFRACTION | 1.75 |
| 1GQB | X-RAY DIFFRACTION | 1.8 |
| 1GP3 | X-RAY DIFFRACTION | 1.95 |
| 1JWG | X-RAY DIFFRACTION | 2 |
| 6N5X | X-RAY DIFFRACTION | 2.05 |
| 6N5Y | X-RAY DIFFRACTION | 2.26 |
| 1LF8 | X-RAY DIFFRACTION | 2.3 |
| 1JPL | X-RAY DIFFRACTION | 2.4 |
| 6V02 | X-RAY DIFFRACTION | 2.46 |
| 6P8I | X-RAY DIFFRACTION | 2.54 |
| 6Z31 | X-RAY DIFFRACTION | 2.56 |
| 5IEI | X-RAY DIFFRACTION | 2.8 |
| 2V5O | X-RAY DIFFRACTION | 2.91 |
| 2V5N | X-RAY DIFFRACTION | 3.2 |
| 6Z32 | X-RAY DIFFRACTION | 3.47 |
| 2V5P | X-RAY DIFFRACTION | 4.1 |
| 8AFZ | ELECTRON MICROSCOPY | 10 |
| 2CNJ | SOLUTION NMR | |
| 2L29 | SOLUTION NMR | |
| 2L2A | SOLUTION NMR | |
| 2M68 | SOLUTION NMR | |
| 2M6T | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P11717-F1 | 73.48 | 0.04 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (5): 2352, 2409, 2425, 2479, 2484
Disulfide bonds (59): 2039–2046, 2082–2113, 2096–2125, 2188–2194, 2232–2266, 2248–2278, 49–69, 77–84, 117–149, 134–161, 174–212, 228–235, 275–306, 288–318, 328–366, 374–382, 420–454, 434–466, 475–519, 531–538 …
Glycosylation sites (18): 112, 400, 435, 543, 581, 626, 747, 871, 951, 957, 1164, 1246, 1312, 1656, 1757, 1816, 2085, 2136
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-432722 | Golgi Associated Vesicle Biogenesis |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-6811440 | Retrograde transport at the Trans-Golgi-Network |
| R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis |
| R-HSA-8856828 | Clathrin-mediated endocytosis |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-199992 | trans-Golgi Network Vesicle Budding |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
MSigDB gene sets: 454 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_LYSOSOMAL_TRANSPORT, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOCC_SECRETORY_GRANULE, GOBP_PROTEIN_TARGETING, GOCC_CELL_SURFACE, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_VACUOLAR_TRANSPORT, KEGG_LYSOSOME, GOBP_REGENERATION, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM
GO Biological Process (14): liver development (GO:0001889), receptor-mediated endocytosis (GO:0006898), lysosomal transport (GO:0007041), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), spermatogenesis (GO:0007283), post-embryonic development (GO:0009791), animal organ regeneration (GO:0031100), response to retinoic acid (GO:0032526), positive regulation of apoptotic process (GO:0043065), host-mediated activation of viral process (GO:0044794), response to tetrachloromethane (GO:1904772), regulation of apoptotic process (GO:0042981), insulin-like growth factor receptor signaling pathway (GO:0048009)
GO Molecular Function (12): G-protein alpha-subunit binding (GO:0001965), retinoic acid binding (GO:0001972), insulin-like growth factor receptor activity (GO:0005010), insulin-like growth factor binding (GO:0005520), D-mannose binding (GO:0005537), enzyme binding (GO:0019899), insulin-like growth factor II binding (GO:0031995), signaling receptor activity (GO:0038023), identical protein binding (GO:0042802), phosphoprotein binding (GO:0051219), retromer complex binding (GO:1905394), protein binding (GO:0005515)
GO Cellular Component (24): Golgi membrane (GO:0000139), nuclear envelope lumen (GO:0005641), endosome (GO:0005768), early endosome (GO:0005769), late endosome (GO:0005770), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), focal adhesion (GO:0005925), cell surface (GO:0009986), endosome membrane (GO:0010008), membrane (GO:0016020), clathrin coat (GO:0030118), transport vesicle (GO:0030133), endocytic vesicle (GO:0030139), trans-Golgi network transport vesicle (GO:0030140), secretory granule membrane (GO:0030667), clathrin-coated endocytic vesicle membrane (GO:0030669), trans-Golgi network membrane (GO:0032588), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), endomembrane system (GO:0012505)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Membrane Trafficking | 3 |
| trans-Golgi Network Vesicle Budding | 1 |
| Innate Immune System | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Clathrin-mediated endocytosis | 1 |
| Immune System | 1 |
| Vesicle-mediated transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 4 |
| bounding membrane of organelle | 3 |
| endomembrane system | 3 |
| cytoplasmic vesicle | 3 |
| endosome | 3 |
| cellular anatomical structure | 3 |
| apoptotic process | 2 |
| insulin-like growth factor binding | 2 |
| cytoplasm | 2 |
| cytoplasmic vesicle membrane | 2 |
| gland development | 1 |
| hepaticobiliary system development | 1 |
| endocytosis | 1 |
| vacuolar transport | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| multicellular organism development | 1 |
| multicellular organismal process | 1 |
| regeneration | 1 |
| animal organ development | 1 |
| response to lipid | 1 |
| response to oxygen-containing compound | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| host-mediated perturbation of viral process | 1 |
| response to chemical | 1 |
| regulation of programmed cell death | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| retinoid binding | 1 |
| monocarboxylic acid binding | 1 |
| transmembrane receptor protein tyrosine kinase activity | 1 |
| insulin-like growth factor receptor signaling pathway | 1 |
| growth factor binding | 1 |
Protein interactions and networks
STRING
2738 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IGF2R | IGF2 | P01344 | 999 |
| IGF2R | IGF1 | P01343 | 995 |
| IGF2R | INS | P01308 | 990 |
| IGF2R | PLIN3 | O60664 | 947 |
| IGF2R | GGA1 | Q9UJY5 | 947 |
| IGF2R | DPP4 | P27487 | 945 |
| IGF2R | M6PR | P20645 | 916 |
| IGF2R | SLC22A3 | O75751 | 904 |
| IGF2R | SLC22A2 | O15244 | 884 |
| IGF2R | GGA2 | Q9UJY4 | 869 |
| IGF2R | IGF1R | P08069 | 864 |
| IGF2R | PLAU | P00749 | 863 |
| IGF2R | CTSD | P07339 | 850 |
| IGF2R | SNX5 | Q9Y5X3 | 834 |
| IGF2R | WASHC1 | A8K0Z3 | 799 |
IntAct
221 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IGF2R | GGA1 | psi-mi:“MI:0407”(direct interaction) | 0.830 |
| GGA1 | IGF2R | psi-mi:“MI:0407”(direct interaction) | 0.830 |
| GGA1 | IGF2R | psi-mi:“MI:0915”(physical association) | 0.830 |
| GGA3 | IGF2R | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| GGA3 | IGF2R | psi-mi:“MI:0915”(physical association) | 0.760 |
| IGF2R | GGA3 | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| GGA3 | IGF2R | psi-mi:“MI:0403”(colocalization) | 0.760 |
| HEXA | HEXB | psi-mi:“MI:0914”(association) | 0.730 |
| CTSV | CTSL | psi-mi:“MI:0914”(association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| IGF2 | IGF2R | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| IGF2R | IGF2 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| GGA1 | JUN | psi-mi:“MI:0915”(physical association) | 0.540 |
| XPO1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (505): IGF2R (Affinity Capture-MS), IGF2R (Affinity Capture-MS), IGF2R (Affinity Capture-Western), IGF2R (Proximity Label-MS), IGF2R (Proximity Label-MS), IGF2R (Proximity Label-MS), IGF2R (Affinity Capture-MS), IGF2R (Affinity Capture-MS), IGF2R (Affinity Capture-MS), IGF2R (Affinity Capture-MS), IGF2R (Affinity Capture-MS), IGF2R (Affinity Capture-MS), IGF2R (Affinity Capture-MS), IGF2R (Proximity Label-MS), IGF2R (Proximity Label-MS)
ESM2 similar proteins: A1X150, E2RK30, F1RD85, O54861, O75339, O88307, P06213, P08169, P08F94, P0DSP1, P10493, P10731, P11717, P14543, P15208, P16056, P19021, P58215, P97467, P97523, Q07113, Q07DY1, Q07DZ1, Q07E01, Q07E24, Q07E48, Q09YN5, Q108U6, Q2IBC0, Q2IBD8, Q2QL89, Q2QLA9, Q2QLH6, Q5EAB6, Q5RFQ6, Q5XIN7, Q66K08, Q6PHU5, Q75ZY9, Q8N2E2
Diamond homologs: A4KX75, D0EM77, D3ZTE0, G5EBU3, G5EGM1, O04529, O18733, O23507, O35548, O44836, O54732, O55761, O60449, O75900, O88272, O88676, O97507, P00748, P02751, P04937, P07589, P08169, P08253, P09237, P11276, P11717, P11722, P14780, P22757, P22897, P24347, P28053, P29136, P33434, P33436, P41245, P41246, P49259, P49260, P50280
SIGNOR signaling
11 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IGF2 | up-regulates | IGF2R | binding |
| “LE-TGN SNARE” | “up-regulates activity” | IGF2R | relocalization |
| SNX5 | “down-regulates quantity” | IGF2R | binding |
| SNX6 | “down-regulates quantity” | IGF2R | binding |
| CSNK2A1 | unknown | IGF2R | phosphorylation |
| PRKACA | unknown | IGF2R | phosphorylation |
| GZMB | up-regulates | IGF2R | binding |
| GCC2 | “up-regulates activity” | IGF2R | relocalization |
| RABEPK | “up-regulates activity” | IGF2R | relocalization |
| PLIN3 | “up-regulates activity” | IGF2R | relocalization |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 222 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| TBC/RABGAPs | 6 | 11.0× | 1e-03 |
| Glycosphingolipid catabolism | 5 | 10.4× | 5e-03 |
| NCAM signaling for neurite out-growth | 5 | 9.6× | 6e-03 |
| Retrograde transport at the Trans-Golgi-Network | 6 | 9.3× | 3e-03 |
| Metabolism of carbohydrates and carbohydrate derivatives | 8 | 6.8× | 2e-03 |
| Clathrin-mediated endocytosis | 10 | 6.0× | 7e-04 |
| Neutrophil degranulation | 21 | 3.4× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| zinc ion transmembrane transport | 7 | 26.0× | 8e-06 |
| intracellular zinc ion homeostasis | 7 | 17.8× | 7e-05 |
| vesicle fusion | 5 | 15.9× | 6e-03 |
| amino acid transport | 6 | 9.9× | 7e-03 |
| autophagosome assembly | 7 | 8.3× | 7e-03 |
| endocytosis | 10 | 5.0× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
395 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 2 |
| Uncertain significance | 277 |
| Likely benign | 33 |
| Benign | 17 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 14795 | NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val) | Pathogenic |
| 14796 | NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu) | Pathogenic |
| 915431 | NM_000876.4(IGF2R):c.52_58del (p.Arg18fs) | Likely pathogenic |
| 929753 | NM_000876.4(IGF2R):c.451C>T (p.His151Tyr) | Likely pathogenic |
SpliceAI
8132 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:159991179:TCCA:T | acceptor_loss | 1.0000 |
| 6:159991181:CAG:C | acceptor_loss | 1.0000 |
| 6:159991182:A:AG | acceptor_gain | 1.0000 |
| 6:159991183:G:GC | acceptor_gain | 1.0000 |
| 6:159991183:GT:G | acceptor_gain | 1.0000 |
| 6:159991183:GTT:G | acceptor_gain | 1.0000 |
| 6:159991183:GTTA:G | acceptor_gain | 1.0000 |
| 6:159991183:GTTAT:G | acceptor_gain | 1.0000 |
| 6:159991320:GTGG:G | donor_gain | 1.0000 |
| 6:159991321:TGG:T | donor_gain | 1.0000 |
| 6:159991321:TGGG:T | donor_loss | 1.0000 |
| 6:159991322:GG:G | donor_gain | 1.0000 |
| 6:159991322:GGG:G | donor_gain | 1.0000 |
| 6:159991323:GG:G | donor_gain | 1.0000 |
| 6:159991324:G:GC | donor_loss | 1.0000 |
| 6:159991324:G:GG | donor_gain | 1.0000 |
| 6:159991325:T:G | donor_loss | 1.0000 |
| 6:160009005:A:G | acceptor_gain | 1.0000 |
| 6:160009007:TAGG:T | acceptor_loss | 1.0000 |
| 6:160009008:A:AG | acceptor_gain | 1.0000 |
| 6:160009008:A:G | acceptor_loss | 1.0000 |
| 6:160009008:AGGT:A | acceptor_gain | 1.0000 |
| 6:160009009:G:A | acceptor_loss | 1.0000 |
| 6:160009009:G:GA | acceptor_gain | 1.0000 |
| 6:160009009:GGT:G | acceptor_gain | 1.0000 |
| 6:160009009:GGTG:G | acceptor_gain | 1.0000 |
| 6:160009009:GGTGA:G | acceptor_gain | 1.0000 |
| 6:160009130:CCCTG:C | donor_gain | 1.0000 |
| 6:160009135:G:GG | donor_gain | 1.0000 |
| 6:160009136:TGAG:T | donor_loss | 1.0000 |
AlphaMissense
16420 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:160078249:T:A | W1789R | 1.000 |
| 6:160078249:T:C | W1789R | 1.000 |
| 6:160078251:G:C | W1789C | 1.000 |
| 6:160078251:G:T | W1789C | 1.000 |
| 6:160040624:G:C | W460C | 0.999 |
| 6:160040624:G:T | W460C | 0.999 |
| 6:160073892:T:C | C1695R | 0.999 |
| 6:160073946:T:C | C1713R | 0.999 |
| 6:160084057:T:A | W1981R | 0.999 |
| 6:160084057:T:C | W1981R | 0.999 |
| 6:160084059:G:C | W1981C | 0.999 |
| 6:160084059:G:T | W1981C | 0.999 |
| 6:160089143:G:C | W2119C | 0.999 |
| 6:160089143:G:T | W2119C | 0.999 |
| 6:160096477:T:A | C2232S | 0.999 |
| 6:160096478:G:C | C2232S | 0.999 |
| 6:160096579:T:C | C2266R | 0.999 |
| 6:160096597:T:A | W2272R | 0.999 |
| 6:160096597:T:C | W2272R | 0.999 |
| 6:160009102:A:C | S128R | 0.998 |
| 6:160009104:C:A | S128R | 0.998 |
| 6:160009104:C:G | S128R | 0.998 |
| 6:160010735:T:A | W155R | 0.998 |
| 6:160010735:T:C | W155R | 0.998 |
| 6:160010737:G:C | W155C | 0.998 |
| 6:160010737:G:T | W155C | 0.998 |
| 6:160032602:T:A | W312R | 0.998 |
| 6:160032602:T:C | W312R | 0.998 |
| 6:160034465:T:A | C420S | 0.998 |
| 6:160034466:G:C | C420S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000044342 (6:160105222 G>A), RS1000065588 (6:159996152 T>A,C,G), RS1000070590 (6:159969075 C>T), RS1000089005 (6:160067322 C>A,T), RS1000112306 (6:160085460 G>T), RS1000117601 (6:159984420 C>G), RS1000184417 (6:160086619 A>G), RS1000194151 (6:160031282 C>T), RS1000238488 (6:160019360 G>C), RS1000252903 (6:160107633 A>G), RS1000267078 (6:159985726 G>C), RS1000271595 (6:160088270 T>A,C,G), RS1000289027 (6:160052342 G>T), RS1000291379 (6:160002112 C>T), RS1000310479 (6:160012960 C>T)
Disease associations
OMIM: gene MIM:147280 | disease phenotypes: MIM:114550, MIM:130650
GenCC curated gene-disease
Mondo (5): hepatocellular carcinoma (MONDO:0007256), prostate cancer (MONDO:0008315), myoepithelial tumor (MONDO:0002380), Beckwith-Wiedemann syndrome (MONDO:0007534), primary ovarian failure (MONDO:0005387)
Orphanet (4): Hepatocellular carcinoma (Orphanet:88673), Familial prostate cancer (Orphanet:1331), Beckwith-Wiedemann syndrome (Orphanet:116), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0001402 | Hepatocellular carcinoma |
| HP:0001413 | Micronodular cirrhosis |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0006572 | Subacute progressive viral hepatitis |
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000265_3 | Brain lesion load | 7.000000e-06 |
| GCST002126_23 | Periodontitis (CDC/AAP) | 2.000000e-06 |
| GCST003127_12 | Lipoprotein (a) levels | 5.000000e-11 |
| GCST005196_137 | Coronary artery disease | 5.000000e-15 |
| GCST005648_2 | Serum metabolite concentrations in chronic kidney disease | 2.000000e-18 |
| GCST005950_13 | Body mass index x sex x age interaction (4df test) | 3.000000e-07 |
| GCST005951_54 | Body mass index | 4.000000e-06 |
| GCST005952_6 | Body mass index (age>50) | 2.000000e-08 |
| GCST006585_1792 | Blood protein levels | 6.000000e-86 |
| GCST010243_135 | Apolipoprotein B levels | 4.000000e-09 |
| GCST010245_8 | LDL cholesterol levels | 9.000000e-10 |
| GCST012020_568 | Serum metabolite levels | 1.000000e-17 |
| GCST012020_569 | Serum metabolite levels | 2.000000e-11 |
| GCST012021_16 | Serum metabolite levels | 1.000000e-17 |
| GCST012021_17 | Serum metabolite levels | 2.000000e-11 |
| GCST90002390_234 | Mean corpuscular hemoglobin | 2.000000e-10 |
| GCST90002392_708 | Mean corpuscular volume | 5.000000e-11 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006925 | lipoprotein A measurement |
| EFO:0004340 | body mass index |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
MeSH disease descriptors (5)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001506 | Beckwith-Wiedemann Syndrome | C16.131.077.133; C16.131.260.080; C16.320.180.080; C16.320.447.375 |
| D006528 | Carcinoma, Hepatocellular | C04.557.470.200.025.255; C04.588.274.623.160; C06.301.623.160; C06.552.697.160 |
| D009208 | Myoepithelioma | C04.557.435.585 |
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3240 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs8191725 | AIRN, IGF2R | 0.00 | 0 |
ChEMBL bioactivities
10 potent at pChembl≥5 of 17 total, top 10 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.24 | Kd | 57.26 | nM | CHEMBL5653589 |
| 7.24 | ED50 | 57.26 | nM | CHEMBL5653589 |
| 7.05 | IC50 | 90 | nM | CHEMBL1162089 |
| 5.75 | IC50 | 1800 | nM | CHEMBL1162088 |
| 5.50 | IC50 | 3200 | nM | CHEMBL39295 |
| 5.43 | IC50 | 3700 | nM | CHEMBL260987 |
| 5.35 | IC50 | 4440 | nM | CHEMBL448108 |
| 5.32 | IC50 | 4760 | nM | CHEMBL406598 |
| 5.30 | IC50 | 5030 | nM | CHEMBL261860 |
| 5.30 | IC50 | 5000 | nM | CHEMBL5919661 |
PubChem BioAssay actives
8 with measured affinity, of 22 total; 8 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148578: Binding affinity to human IGF2R incubated for 45 mins by Kinobead based pull down assay | kd | 0.0573 | uM |
| [(2R,3S,4S,5S,6R)-6-[(2S,3S,4S,5S,6R)-2-[(2R,3S)-3-acetamido-4-[[(2S)-6-[(2-aminobenzoyl)amino]-1-[[(2S,3R)-1-amino-3-[(2S,3S,4S,5S,6R)-4,5-dihydroxy-6-(hydroxymethyl)-3-[(2R,3S,4S,5S,6R)-3,4,5-trihydroxy-6-(phosphonooxymethyl)oxan-2-yl]oxyoxan-2-yl]oxy-1-oxobutan-2-yl]amino]-1-oxohexan-2-yl]amino]-4-oxobutan-2-yl]oxy-4,5-dihydroxy-6-(hydroxymethyl)oxan-3-yl]oxy-3,4,5-trihydroxyoxan-2-yl]methyl dihydrogen phosphate | 318562: Displacement of pentamannosyl phosphate bovine serum albumin from M6P/IGF2R | ic50 | 0.0900 | uM |
| [(2R,3S,4S,5S,6R)-6-[(2S,3S,4S,5S,6R)-2-[(2R,3S)-3-acetamido-4-[[(2S)-6-acetamido-1-[[(2S,3R)-1-amino-3-[(2S,3S,4S,5S,6R)-4,5-dihydroxy-6-(hydroxymethyl)-3-[(2R,3S,4S,5S,6R)-3,4,5-trihydroxy-6-(phosphonooxymethyl)oxan-2-yl]oxyoxan-2-yl]oxy-1-oxobutan-2-yl]amino]-1-oxohexan-2-yl]amino]-4-oxobutan-2-yl]oxy-4,5-dihydroxy-6-(hydroxymethyl)oxan-3-yl]oxy-3,4,5-trihydroxyoxan-2-yl]methyl dihydrogen phosphate | 318562: Displacement of pentamannosyl phosphate bovine serum albumin from M6P/IGF2R | ic50 | 1.8000 | uM |
| (Z)-3-(4-hydroxy-3-methoxyphenyl)-2-pyridin-2-ylprop-2-enenitrile | 102609: Inhibition of IGF-II stimulated MCF-7 human breast tumor cell proliferation | ic50 | 3.2000 | uM |
| azane;[(2R,3S,4S,5S,6S)-3,4,5-trihydroxy-6-[12-[(2S,3S,4S,5S,6R)-3,4,5-trihydroxy-6-(phosphonooxymethyl)oxan-2-yl]oxydodecoxy]oxan-2-yl]methyl dihydrogen phosphate | 318562: Displacement of pentamannosyl phosphate bovine serum albumin from M6P/IGF2R | ic50 | 3.7000 | uM |
| azane;[(2R,3S,4S,5S,6S)-3,4,5-trihydroxy-6-[10-[(2S,3S,4S,5S,6R)-3,4,5-trihydroxy-6-(phosphonooxymethyl)oxan-2-yl]oxydecoxy]oxan-2-yl]methyl dihydrogen phosphate | 318562: Displacement of pentamannosyl phosphate bovine serum albumin from M6P/IGF2R | ic50 | 4.4400 | uM |
| azane;[(2R,3S,4S,5S,6S)-3,4,5-trihydroxy-6-[6-[(2S,3S,4S,5S,6R)-3,4,5-trihydroxy-6-(phosphonooxymethyl)oxan-2-yl]oxyhexoxy]oxan-2-yl]methyl dihydrogen phosphate | 318562: Displacement of pentamannosyl phosphate bovine serum albumin from M6P/IGF2R | ic50 | 4.7600 | uM |
| azane;[(2R,3S,4S,5S,6S)-3,4,5-trihydroxy-6-[8-[(2S,3S,4S,5S,6R)-3,4,5-trihydroxy-6-(phosphonooxymethyl)oxan-2-yl]oxyoctoxy]oxan-2-yl]methyl dihydrogen phosphate | 318562: Displacement of pentamannosyl phosphate bovine serum albumin from M6P/IGF2R | ic50 | 5.0300 | uM |
CTD chemical–gene interactions
81 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, increases expression, increases methylation | 6 |
| Valproic Acid | affects expression, increases expression | 5 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 3 |
| Tobacco Smoke Pollution | increases expression, affects expression, decreases expression | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| arsenite | affects expression, affects binding, decreases reaction | 2 |
| sodium arsenite | affects expression, increases expression | 2 |
| Arsenic | affects expression, increases response to substance | 2 |
| Copper | affects binding, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tretinoin | increases reaction, increases secretion, increases expression, affects binding | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| Cadmium Chloride | increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| chloroacetaldehyde | affects expression | 1 |
| salinomycin | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| methacrylaldehyde | increases oxidation, affects cotreatment | 1 |
| beta-methylcholine | affects expression | 1 |
ChEMBL screening assays
5 unique, capped per target: 4 binding, 1 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651620 | Binding | Binding affinity to human IGF2R incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
| CHEMBL710406 | Functional | Inhibition of IGF-II stimulated MCF-7 human breast tumor cell proliferation | Structural studies on bioactive compounds. 32. Oxidation of tyrphostin protein tyrosine kinase inhibitors with hypervalent iodine reagents. — J Med Chem |
Cellosaurus cell lines
6 cell lines: 6 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A2FE | SKBR-3-OE | Cancer cell line | Female |
| CVCL_D1WU | Abcam A-549 IGF2R KO | Cancer cell line | Male |
| CVCL_D2B6 | Abcam HCT 116 IGF2R KO | Cancer cell line | Male |
| CVCL_D7RV | Ubigene A-549 IGF2R KO | Cancer cell line | Male |
| CVCL_SS34 | HAP1 IGF2R (-) 1 | Cancer cell line | Male |
| CVCL_XP76 | HAP1 IGF2R (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00168987 | PHASE4 | COMPLETED | Influence of an Oral Nutritional Supplement Rich in Omega-3 Fatty Acids on Functional State and Quality of Life in Malnourished Patients With Gastroenterological Tumors |
| NCT00554905 | PHASE4 | UNKNOWN | Radiofrequency Ablation With or With Transcatheter Arterial Embolization for Hepatocellular Carcinoma |
| NCT00555334 | PHASE4 | UNKNOWN | Nucleoid as an Adjuvant Therapy After Radiofrequency Ablation for Hepatocellular Carcinoma |
| NCT00556803 | PHASE4 | UNKNOWN | TACE as an Adjuvant Therapy After Radiofrequency Ablation (RFA) for Hepatocellular Carcinoma |
| NCT00557024 | PHASE4 | UNKNOWN | Radiotherapy as an Adjuvant Therapy After Radiofrequency Ablation for Hepatocellular Carcinoma |
| NCT00646100 | PHASE4 | COMPLETED | Transarterial Chemoembolization for Unresectable Hepatocellular Carcinoma With Portal Vein Tumor Thrombosis |
| NCT00768157 | PHASE4 | UNKNOWN | Efficacy of Antiviral Therapy After Radical Resection for Hepatitis B Virus-Related Hepatocellular Carcinoma |
| NCT00834860 | PHASE4 | UNKNOWN | Peginterferon Plus Ribavirin for Hepatitis C Patients Concomitant With Hepatocellular Carcinoma |
| NCT01098760 | PHASE4 | COMPLETED | Hepatocellular Carcinoma - Advanced Stage - Sorafenib Trial in Taiwanese Patients |
| NCT01102335 | PHASE4 | UNKNOWN | Synergistic Treatment for Hepatocellular Carcinoma (HCC) Using Transcatheter Arterial Chemoembolization (TACE) With Anti-hepatitis B Virus (Anti-HBV) Therapy |
| NCT01203787 | PHASE4 | COMPLETED | Sorafenib Dose Ramp-Up in Hepatocellular Carcinoma (HCC) |
| NCT01298284 | PHASE4 | UNKNOWN | A Trial of EVL\GVS Alone vs. EVL\GVS Combined Propranolol |
| NCT01332669 | PHASE4 | COMPLETED | Drug-eluting Bead in Hepatocellular Carcinoma |
| NCT01351194 | PHASE4 | UNKNOWN | Radiofrequency Ablation Versus Hepatic Resection for the Treatment of Hepatocellular Carcinomas Smaller Than 2 cm |
| NCT01409499 | PHASE4 | COMPLETED | Palliative Treatments for Patients With Advanced Hepatocellular Carcinoma (HCC) |
| NCT01415063 | PHASE4 | UNKNOWN | Radiofrequency Ablation Combined With Transcatheter Arterial Chemoembolization Versus Radiofrequency Ablation Alone for Recurrent Hepatocellular Carcinoma |
| NCT01438437 | PHASE4 | UNKNOWN | Trial of Ablation of Small Hepatocellular Carcinomas in Patients of Cirrhosis |
| NCT01451658 | PHASE4 | UNKNOWN | A Trial of EVL\GVS Alone vs. EVL\GVS Combined Propranolol (S-HCC) |
| NCT01570075 | PHASE4 | UNKNOWN | Radiofrequency Ablation Versus Liver Resection for Elderly Patients With Hepatocellular Carcinoma (HCC) Within the Milan Criteria |
| NCT01575574 | PHASE4 | COMPLETED | Magnetic Resonance With Gadoxetic Acid for the Diagnosis of Hepatocellular Carcinoma in Patients With Liver Cirrhosis. Evaluation of Its Impact for the Non-invasive Diagnosis |
| NCT01639703 | PHASE4 | COMPLETED | Hepatic Xenetix-CT Perfusion |
| NCT01798160 | PHASE4 | COMPLETED | Selective Internal Radiation Therapy (SIRT) Versus Transarterial Chemoembolisation (TACE) for the Treatment of Hepatocellular Carcinoma (HCC). |
| NCT01806740 | PHASE4 | TERMINATED | DCE-MRI Using Dotarem® in Evaluation of Therapeutic Response to Sorafenib in Patients With Advanced Stage HCC |
| NCT01849588 | PHASE4 | TERMINATED | HCV-RNA Kinetics During Sorafenib for Hepatocellular Carcinoma (HCC) |
| NCT01894269 | PHASE4 | UNKNOWN | Chemoembolization With or Without Antiviral Therapy for Unresectable HBV-related HCC With Low HBV DNA Replication |
| NCT01970748 | PHASE4 | UNKNOWN | Primary Prevention of Patients With Hepatocellular Carcinoma and Concomitant Esophageal Varices |
| NCT01997957 | PHASE4 | UNKNOWN | A RCT of Oral S-1 in Combination With Sequential HAIC of Oxaliplatin After TACE in Patients With Advanced HCC |
| NCT02174575 | PHASE4 | WITHDRAWN | Anesthetic Agents and Acute Kidney Injury After Liver Resection Surgery |
| NCT02253511 | PHASE4 | UNKNOWN | A Prospective Control Study of Cidan Capsule Combined With TACE in Hepatocellular Carcinoma |
| NCT02399033 | PHASE4 | UNKNOWN | Xihuang Capsules Prevention of Recurrence in Patients With Hepatocellular Carcinoma After Hepatectomy |
| NCT02472249 | PHASE4 | COMPLETED | Pharmacological Manipulation of Intrahepatic Arterial Blood Flow in HCC |
| NCT02504983 | PHASE4 | UNKNOWN | Clinical Trial for GALNT14 Genotype - Guided, Sorafenib in Combination With TACE in Hepatocellular Carcinoma |
| NCT02525380 | PHASE4 | UNKNOWN | Safety and Efficacy of Doxorubicin-eluting-bead Embolization in Patients With Advanced Hepatocellular Carcinoma |
| NCT02534961 | PHASE4 | UNKNOWN | Prophylactic Antibiotics Before RFA for HCC |
| NCT02535117 | PHASE4 | UNKNOWN | Laparoscopic Surgery Versus Radiofrequency Ablation for Recurrent HCC |
| NCT02729506 | PHASE4 | UNKNOWN | Transarterial Radioembolization Versus Chemoembolization for the Treatment of Hepatocellular Carcinoma |
| NCT02733809 | PHASE4 | UNKNOWN | Mechanism of Sorafenib Resistance in Patients With Advanced Hepatocellular Carcinoma |
| NCT02785380 | PHASE4 | NOT_YET_RECRUITING | Laparoscopic Surgery VS RFA for Recurrent HCC |
| NCT02959359 | PHASE4 | WITHDRAWN | DAA in the Risk of Recurrence After Curative Treatment of HCC |
| NCT02961998 | PHASE4 | COMPLETED | Preventive Effect of Celecoxib on Sorafenib-related Hand Foot Syndrome, a Single Center, Randomized Controlled Clinical Trail |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Beckwith-Wiedemann syndrome, hepatocellular carcinoma, myoepithelial tumor