IGF2
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Also known as FLJ44734IGF-II
Summary
IGF2 (insulin like growth factor 2, HGNC:5466) is a protein-coding gene on chromosome 11p15.5, encoding Insulin-like growth factor 2 (P01344). The insulin-like growth factors possess growth-promoting activity. In precision oncology, IGF2 Overexpression confers sensitivity to Ganitumab + Gemcitabine in Pancreatic Adenocarcinoma (CIViC Level B); 4 further curated variant–drug associations are listed below.
This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5’ region overlaps the INS gene and the 3’ region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 3481 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Silver-Russell syndrome 3 (Definitive, ClinGen)
- GWAS associations: 30
- Clinical variants (ClinVar): 197 total — 11 pathogenic, 10 likely-pathogenic
- Phenotypes (HPO): 125
- Druggable target: yes
- Precision-oncology evidence (CIViC): 5 curated variant–drug associations
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_000612
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5466 |
| Approved symbol | IGF2 |
| Name | insulin like growth factor 2 |
| Location | 11p15.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ44734, IGF-II |
| Ensembl gene | ENSG00000167244 |
| Ensembl biotype | protein_coding |
| OMIM | 147470 |
| Entrez | 3481 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 retained_intron
ENST00000381389, ENST00000381392, ENST00000381395, ENST00000381406, ENST00000416167, ENST00000418738, ENST00000434045, ENST00000476874, ENST00000481781, ENST00000695541
RefSeq mRNA: 5 — MANE Select: NM_000612
NM_000612, NM_001007139, NM_001127598, NM_001291861, NM_001291862
CCDS: CCDS44517, CCDS7728
Canonical transcript exons
ENST00000416167 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001640131 | 2138229 | 2139389 |
| ENSE00003495975 | 2133517 | 2133665 |
| ENSE00003583447 | 2135367 | 2135529 |
| ENSE00003843704 | 2129117 | 2133223 |
Expression profiles
Bgee: expression breadth ubiquitous, 135 present calls, max score 99.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 276.5886 / max 24409.8827, expressed in 984 samples.
FANTOM5 promoters (55 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 118173 | 167.2099 | 810 |
| 118143 | 50.4560 | 843 |
| 118122 | 16.9721 | 560 |
| 112624 | 15.5934 | 515 |
| 112623 | 11.1132 | 463 |
| 112620 | 9.5302 | 437 |
| 112628 | 7.9566 | 408 |
| 112618 | 5.8194 | 376 |
| 112627 | 5.7699 | 347 |
| 118146 | 4.7361 | 570 |
Top tissues by expression
153 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 99.57 | gold quality |
| placenta | UBERON:0001987 | 99.55 | gold quality |
| sural nerve | UBERON:0015488 | 99.28 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.09 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.52 | gold quality |
| liver | UBERON:0002107 | 97.41 | gold quality |
| apex of heart | UBERON:0002098 | 96.49 | gold quality |
| left uterine tube | UBERON:0001303 | 95.75 | gold quality |
| omental fat pad | UBERON:0010414 | 95.72 | gold quality |
| fallopian tube | UBERON:0003889 | 95.08 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.82 | gold quality |
| right uterine tube | UBERON:0001302 | 94.69 | gold quality |
| endometrium | UBERON:0001295 | 94.40 | gold quality |
| tibial nerve | UBERON:0001323 | 94.36 | gold quality |
| adipose tissue | UBERON:0001013 | 94.00 | gold quality |
| endocervix | UBERON:0000458 | 93.98 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.58 | gold quality |
| right atrium auricular region | UBERON:0006631 | 93.05 | gold quality |
| heart | UBERON:0000948 | 92.72 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 92.49 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.31 | gold quality |
| gall bladder | UBERON:0002110 | 92.19 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.03 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.70 | gold quality |
| uterus | UBERON:0000995 | 91.69 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 91.66 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.55 | gold quality |
| uterine cervix | UBERON:0000002 | 91.29 | gold quality |
| body of uterus | UBERON:0009853 | 91.23 | gold quality |
| muscle of leg | UBERON:0001383 | 91.10 | gold quality |
Single-cell (SCXA)
Detected in 38 experiment(s), a significant marker in 36.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 41184.25 |
| E-HCAD-23 | yes | 21645.05 |
| E-MTAB-6701 | yes | 19396.68 |
| E-HCAD-24 | yes | 14577.08 |
| E-MTAB-8221 | yes | 8630.56 |
| E-CURD-98 | yes | 8302.33 |
| E-MTAB-8205 | yes | 7695.12 |
| E-GEOD-124263 | yes | 4507.40 |
| E-MTAB-10485 | yes | 4505.80 |
| E-CURD-112 | yes | 4321.69 |
| E-CURD-79 | yes | 3900.85 |
| E-GEOD-135922 | yes | 3684.52 |
| E-GEOD-134144 | yes | 3529.71 |
| E-MTAB-7407 | yes | 3465.28 |
| E-MTAB-8559 | yes | 3299.08 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, ARID4B, ASCL1, ATF3, CEBPA, CEBPB, CRX, CTCF, CTNNB1, DDX5, E2F1, E2F3, EGR1, EGR2, FOXA2, FOXC2, FOXJ1, FOXO1, GLI1, GRHL1, GTF3A, H19, HDAC5, HIC1, HIF1A, HMGA1, HMGA2, JUN, JUNB, KHDRBS1, MBD1, MYB, MYC, NFKB, PLAG1, PLAGL1, PLAGL2, RXRA, SMAD1, SP1
miRNA regulators (miRDB)
153 targeting IGF2, 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-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-23A-5P | 99.94 | 65.39 | 468 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-10395-5P | 99.86 | 67.35 | 676 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- Insulin-like growth factor 2 (IGF2 ) gene variant is associated with overfeeding-induced metabolic changes. Insulin sensitivity decreased . (PMID:11793026)
- 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)
- These data indicate that the translational machinery encounters major parts of IGF II-leader 1. (PMID:11849996)
- Association of H19 promoter methylation with the expression of IGF-II gene in adrenocortical tumors. (PMID:11889182)
- Human insulin-like growth factor II leader 2 mediates internal initiation of translation (PMID:11903044)
- Loss of genomic imprinting of IGF2 is strongly associated with cellular proliferation in normal hematopoietic cells. (PMID:11937266)
- altered IGF-II and IGFBP-1 expression at the fetomaternal interface may be important in the pathophysiology of pre-eclampsia (PMID:11969341)
- cDNA probes were used to analyze the gene expression of IGF-II 6 in luteinized granulosa cells from different-sized follicles after ovarian hyperstimulation. (PMID:12005306)
- determination of blood levels in adult patients with severe liver disease before and after orthotopic liver transplantation (PMID:12006706)
- igf2 expression regulates hemangioma growth and involution (PMID:12032304)
- Caucasians with the IGF2 A/A genotype exhibit higher fat mass than G/G individuals (PMID:12075589)
- Brain tumor invasiveness in degrees from respect of the arachnoid membrane progressing to frank brain invasion correlated with increases in IGF-II and IGFBP-6 expression. (PMID:12125963)
- 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)
- Data suggest a causal relation between telomere shortening and reduced expression of KGF and IGF-II in human fibroblasts. (PMID:12243757)
- The dependence of the methylation of a region of this gene depends on the primary methylation imprint about 90 kilobases away. (PMID:12270940)
- Glucose transporter gene expression in the jejunum in response to insulin-like growth factors in rat pups (PMID:12388463)
- data demonstrate for the first time that serum levels of IGFs (including free fractions) and IGFBPs are not increased in euthyroid Graves’ patients with active thyroid eye disease (PMID:12519841)
- IGF-II was expressed in human hepatoma cell lines. (PMID:12532445)
- effect of relaxin on cellular proliferation in WISH cells is likely through the transcriptional up-regulation of IGF-II (PMID:12548223)
- mitogenic effects on Malassez cells in the normal periodontal ligament (PMID:12558805)
- Overexpression of IGF2 was found to play an important role in carcinogenesis of colorectal cancer. (PMID:12579496)
- Alterations in the IFGII imprinted region occur in juvenile nasopharyngeal angiofibroma. (PMID:12605037)
- investigated the utility of loss of IGF2 imprinting as a marker of colorectal cancer risk (PMID:12637750)
- IGF2 is maternally imprinted thus is expressed only through the paternal allele, also IGF2 is over expressed in ovarian tumors. (PMID:12700030)
- Human insulin-like growth factor II gene (IGF2) is overexpressed, and its imprinting is disrupted in many tumors, including Wilms’ tumor. (PMID:12702581)
- Data suggest that insulin-like growth factor-II (IGF-II) is complexed in vivo with intact insulin-like growth factor binding proteins (IGFBP-2) and with processed IGFBP-2 fragments, which do not impair the activity of IGF-II on cell survival. (PMID:12727212)
- circulating IGF-II levels may play a role in body weight regulation and development of obesity in men and women with normal glucose tolerance (PMID:12765950)
- p53mt249 stimulates IGF-II dependent IGF-IR signaling by upregulating the expression of both ligand (IGF-II) and receptor (IGF-IR) through an autocrine and/or paracrine loop (PMID:12782403)
- PTEN modulates IGF2-mediated signaling. The phosphoprotein phosphatase activity of PTEN downregulates IGF-2 expression in hepatoma cells. (PMID:12804776)
- 214 transcripts were similarly regulated by insulin and IGF-II through Insulin Receptor A, whereas 45 genes were differentially transcribed (PMID:12881524)
- IGF2, a potent growth factor, may play a role in the development or progression of clear cell sarcoma of the kidney. (PMID:13679437)
- AT-rich DNA sequences located in the vicinity of previously characterized differentially methylated regions (DMRs) of the imprinted Igf2 gene are conserved between mouse and human. (PMID:14645508)
- PLAG1 regulates promoter P3-dependent transcription of IGF2 in hepatoblastomas. (PMID:14695992)
- Serum IGF-I shows positive correlations with myoblast retrieval in control patients that is lost in malignancy. (PMID:14710345)
- Both first- and second-phase insulin secretion were not significantly different between the various IGF-I or IGF-II genotypes. (PMID:14749262)
- In human fetuses, IGF-I and IGF-II levels increase longitudinally throughout pregnancy. (PMID:14764950)
- Our findings support the hypothesis that LOI of IGF-II is an epigenetic trait polymorphic in the population and suggest that LOI of IGF-II may play a role in colorectal cancer. (PMID:14996863)
- Fibroblast proliferation, differentiation into myofibroblasts, & increased collagen synthesis are regulated via a CTGF-dependent pathway in concert with either EGF or IGF-2. (PMID:15003992)
- IGF-II:VN and IGF-I:IGFBP-5:VN complexes may be useful in situations where enhanced keratinocyte cell migration and proliferation is required, such as in wound healing and skin regeneration. (PMID:15140223)
- IGF-II gene APA I polymorphism can not serve as a candidate gene marker for screening rheumatoid arthritis patients in Taiwan. (PMID:15163116)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | igf2a | ENSDARG00000018643 |
| danio_rerio | igf2b | ENSDARG00000033307 |
| mus_musculus | Igf2 | ENSMUSG00000048583 |
| rattus_norvegicus | Igf2 | ENSRNOG00000020369 |
Paralogs (2): IGF1 (ENSG00000017427), INS (ENSG00000254647)
Protein
Protein identifiers
Insulin-like growth factor 2 — P01344 (reviewed: P01344)
Alternative names: Insulin-like growth factor II, Somatomedin-A, T3M-11-derived growth factor
All UniProt accessions (1): P01344
UniProt curated annotations — full annotation on UniProt →
Function. The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF2 is influenced by placental lactogen. Also involved in tissue differentiation. In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver. Acts as a ligand for integrin which is required for IGF2 signaling. Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation. Inhibits myoblast differentiation and modulates metabolism via increasing the mitochondrial respiration rate. Preptin undergoes glucose-mediated co-secretion with insulin, and acts as a physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3.
Subunit / interactions. Interacts with MYORG; this interaction is required for IGF2 secretion. Interacts with integrins ITGAV:ITGB3 and ITGA6:ITGB4; integrin-binding is required for IGF2 signaling. Interacts with IGFBP2.
Subcellular location. Secreted.
Tissue specificity. Expressed in heart, placenta, lung, liver, muscle, kidney, tongue, limb, eye and pancreas.
Post-translational modifications. O-glycosylated with core 1 or possibly core 8 glycans. Thr-96 is a minor glycosylation site compared to Thr-99. Proteolytically processed by PCSK4, proIGF2 is cleaved at Arg-128 and Arg-92 to generate big-IGF2 and mature IGF2.
Disease relevance. Silver-Russell syndrome 1 (SRS1) [MIM:180860] A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS1 is caused by epigenetic changes of DNA hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes. The gene represented in this entry is involved in disease pathogenesis. Silver-Russell syndrome 3 (SRS3) [MIM:616489] A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
Polymorphism. Genetic variations in IGF2 are associated with body mass index (BMI). The BMI is a statistical measurement which compares a person’s weight and height.
Miscellaneous. The IGF2 locus is imprinted. Paternal inherited gene is expressed, while the maternal inherited gene is imprinted, hence silenced. Transcripts from 5 promoters P0, P1, P2, P3 and P4 code for the same protein but are differentially regulated in a developmental stage and tissue specificity. Product of 5 different transcripts regulated by 5 different promoters, denominated P0, P1, P2, P3 and P4.
Similarity. Belongs to the insulin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P01344-1 | 1 | yes |
| P01344-2 | 2 | |
| P01344-3 | 3 |
RefSeq proteins (5): NP_000603, NP_001007140, NP_001121070, NP_001278790, NP_001278791 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013576 | IGF2_C | Domain |
| IPR016179 | Insulin-like | Domain |
| IPR022334 | IGF2 | Family |
| IPR022350 | IGF-1/2 | Family |
| IPR022352 | Ins/IGF/rlx | Family |
| IPR022353 | Insulin_CS | Conserved_site |
| IPR036438 | Insulin-like_sf | Homologous_superfamily |
Pfam: PF00049, PF08365
UniProt features (44 total): mutagenesis site 8, region of interest 5, site 4, sequence variant 4, helix 4, glycosylation site 3, disulfide bond 3, sequence conflict 3, chain 2, splice variant 2, strand 2, signal peptide 1, propeptide 1, turn 1, peptide 1
Structure
Experimental structures (PDB)
16 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3KR3 | X-RAY DIFFRACTION | 2.2 |
| 3E4Z | X-RAY DIFFRACTION | 2.28 |
| 6VWG | ELECTRON MICROSCOPY | 3.21 |
| 8YSZ | ELECTRON MICROSCOPY | 3.38 |
| 8U4C | ELECTRON MICROSCOPY | 3.6 |
| 8VJB | ELECTRON MICROSCOPY | 3.6 |
| 6VWI | ELECTRON MICROSCOPY | 3.7 |
| 8VJC | ELECTRON MICROSCOPY | 3.8 |
| 2V5P | X-RAY DIFFRACTION | 4.1 |
| 8U4E | ELECTRON MICROSCOPY | 4.2 |
| 6UM2 | ELECTRON MICROSCOPY | 4.32 |
| 1IGL | SOLUTION NMR | |
| 2L29 | SOLUTION NMR | |
| 5L3L | SOLUTION NMR | |
| 5L3M | SOLUTION NMR | |
| 5L3N | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P01344-F1 | 58.95 | 0.00 |
Antibody-complex structures (SAbDab): 1 — 3KR3
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (4): 48 (important for interaction with integrin); 58 (important for interaction with integrin); 61 (important for interaction with integrin); 62 (important for interaction with integrin)
Disulfide bonds (3): 33–71, 45–84, 70–75
Glycosylation sites (3): 96, 99, 163
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 48 | does not affect integrin binding. defective integrin binding and igf2 signaling; when associated with e-58; e-61 and e-6 |
| 58 | does not affect integrin binding. defective integrin binding and igf2 signaling; when associated with e-48; e-61 and e-6 |
| 61 | does not affect integrin binding. defective integrin binding and igf2 signaling; when associated with e-48; e-58 and e-6 |
| 62 | does not affect integrin binding. defective integrin binding and igf2 signaling; when associated with e-48; e-58 and e-6 |
| 64 | slight but significant increase in integrin binding. |
| 92 | decreases mature igf2 levels. |
| 112 | no effect in proteolytical processing. |
| 128 | abolishes proteolytical processing. |
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-114608 | Platelet degranulation |
| R-HSA-2404192 | Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) |
| R-HSA-2428928 | IRS-related events triggered by IGF1R |
| R-HSA-2428933 | SHC-related events triggered by IGF1R |
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-9943962 | CHD6, CHD7, CHD8, CHD9 subfamily |
MSigDB gene sets: 724 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_MITOTIC_NUCLEAR_DIVISION, MODULE_52, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, YAGI_AML_WITH_INV_16_TRANSLOCATION, HARRIS_HYPOXIA, GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOCC_SECRETORY_GRANULE
GO Biological Process (29): negative regulation of transcription by RNA polymerase II (GO:0000122), osteoblast differentiation (GO:0001649), in utero embryonic development (GO:0001701), embryonic placenta development (GO:0001892), glucose metabolic process (GO:0006006), regulation of DNA-templated transcription (GO:0006355), positive regulation of cell population proliferation (GO:0008284), insulin receptor signaling pathway (GO:0008286), animal organ morphogenesis (GO:0009887), exocrine pancreas development (GO:0031017), positive regulation of multicellular organism growth (GO:0040018), positive regulation of activated T cell proliferation (GO:0042104), positive regulation of MAPK cascade (GO:0043410), positive regulation of glycogen biosynthetic process (GO:0045725), positive regulation of mitotic nuclear division (GO:0045840), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of organ growth (GO:0046622), positive regulation of insulin receptor signaling pathway (GO:0046628), insulin-like growth factor receptor signaling pathway (GO:0048009), positive regulation of skeletal muscle tissue growth (GO:0048633), striated muscle cell differentiation (GO:0051146), regulation of muscle cell differentiation (GO:0051147), negative regulation of muscle cell differentiation (GO:0051148), positive regulation of cell division (GO:0051781), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), embryonic placenta morphogenesis (GO:0060669), genomic imprinting (GO:0071514), positive regulation of vascular endothelial cell proliferation (GO:1905564), ossification (GO:0001503)
GO Molecular Function (9): insulin receptor binding (GO:0005158), insulin-like growth factor receptor binding (GO:0005159), integrin binding (GO:0005178), hormone activity (GO:0005179), growth factor activity (GO:0008083), transmembrane receptor protein tyrosine kinase activator activity (GO:0030297), protein serine/threonine kinase activator activity (GO:0043539), receptor ligand activity (GO:0048018), protein binding (GO:0005515)
GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), platelet alpha granule lumen (GO:0031093)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| IGF1R signaling cascade | 2 |
| Response to elevated platelet cytosolic Ca2+ | 1 |
| Signaling by Receptor Tyrosine Kinases | 1 |
| Metabolism of proteins | 1 |
| CHD chromatin remodelers | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| signaling receptor binding | 4 |
| positive regulation of developmental growth | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| cell surface receptor protein tyrosine kinase signaling pathway | 2 |
| positive regulation of multicellular organismal process | 2 |
| receptor ligand activity | 2 |
| signaling receptor activator activity | 2 |
| negative regulation of DNA-templated transcription | 1 |
| ossification | 1 |
| cell differentiation | 1 |
| chordate embryonic development | 1 |
| in utero embryonic development | 1 |
| placenta development | 1 |
| embryonic organ development | 1 |
| hexose metabolic process | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| cellular response to insulin stimulus | 1 |
| anatomical structure morphogenesis | 1 |
| animal organ development | 1 |
| pancreas development | 1 |
| exocrine system development | 1 |
| gland development | 1 |
| digestive system development | 1 |
| multicellular organism growth | 1 |
| regulation of multicellular organism growth | 1 |
| positive regulation of T cell proliferation | 1 |
| regulation of activated T cell proliferation | 1 |
| activated T cell proliferation | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| positive regulation of intracellular signal transduction | 1 |
| glycogen biosynthetic process | 1 |
| regulation of glycogen biosynthetic process | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
Protein interactions and networks
STRING
4200 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IGF2 | IGFBP2 | P18065 | 999 |
| IGF2 | IGF2R | P11717 | 999 |
| IGF2 | IGFBP3 | P17936 | 999 |
| IGF2 | IGF1R | P08069 | 999 |
| IGF2 | IGFBP1 | P08833 | 998 |
| IGF2 | IGFBP6 | P24592 | 997 |
| IGF2 | IGFBP5 | P24593 | 996 |
| IGF2 | IGF2BP2 | Q9Y6M1 | 994 |
| IGF2 | IGF2BP1 | Q9NZI8 | 992 |
| IGF2 | IGF2BP3 | O00425 | 989 |
| IGF2 | IGFBP7 | Q16270 | 986 |
| IGF2 | IGF1 | P01343 | 985 |
| IGF2 | HSPB3 | Q12988 | 984 |
| IGF2 | INS | P01308 | 982 |
| IGF2 | INSR | P06213 | 972 |
IntAct
45 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IGF2 | RBPMS | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBPMS | IGF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IGF2 | IGF2R | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| IGF2R | IGF2 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| IGFBP4 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.530 |
| IGFBP1 | SUSD5 | psi-mi:“MI:0914”(association) | 0.530 |
| IGFBP6 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| IGFBP4 | IGF2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| DCN | IGF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| IGF2 | CRELD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FAF1 | IGF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IGF2 | NMRK2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IGF1R | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (49): RBPMS (Two-hybrid), IGF2 (Affinity Capture-MS), IGF2 (Affinity Capture-RNA), IGF2 (Two-hybrid), GPR152 (Two-hybrid), IGF2 (Reconstituted Complex), IGF2 (Reconstituted Complex), IGFBP1 (Reconstituted Complex), IGF2 (Reconstituted Complex), TF (Reconstituted Complex), IGFBP3 (Reconstituted Complex), IGF2 (Reconstituted Complex), IGF2 (Reconstituted Complex), IGF2 (Two-hybrid), IGF2 (Two-hybrid)
ESM2 similar proteins: A0PJX4, A6QNZ8, B5DEK8, O60320, O73612, P01134, P01344, P01346, P07456, P10764, P48030, P51459, P52796, P52799, P52800, P98172, Q0V9A8, Q0VBP7, Q3SXP7, Q3SZ48, Q3UPR0, Q5E943, Q5HZN7, Q5JRV8, Q5PQS5, Q5R8M2, Q5RDG5, Q5RDV6, Q5VX71, Q5XGS4, Q5ZIS9, Q68FW3, Q6A044, Q7TMP6, Q8BGZ2, Q8BH32, Q8BHW5, Q8CA71, Q8N114, Q8R092
Diamond homologs: C0HJI1, C0HJI2, C0HJI3, C0HJI4, C0HJI5, C0HJI6, C0HJI7, C0HJI8, C0HJT9, C0HJU0, O73727, P01308, P01310, P01311, P01313, P01314, P01315, P01316, P01317, P01318, P01319, P01320, P01321, P01322, P01323, P01324, P01325, P01326, P01327, P01328, P01333, P01334, P01335, P01336, P01337, P01338, P01339, P01340, P01342, P01344
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IGF2 | up-regulates | IGF2R | binding |
| PLAG1 | “up-regulates quantity by expression” | IGF2 | “transcriptional regulation” |
| IGF2 | “up-regulates activity” | IGF1R | binding |
| PAX3-FOXO1 | “up-regulates quantity by expression” | IGF2 | “transcriptional regulation” |
| LIN28A | “up-regulates quantity by expression” | IGF2 | “translation regulation” |
| IGF2 | up-regulates | INSR | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 26 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 |
|---|---|---|---|
| Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) | 5 | 24.0× | 5e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 6 | 19.6× | 1e-04 |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
197 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 11 |
| Likely pathogenic | 10 |
| Uncertain significance | 107 |
| Likely benign | 50 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (21)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1709875 | NM_000612.6(IGF2):c.-6-2A>T | Pathogenic |
| 204491 | NM_000612.6(IGF2):c.23C>A (p.Ser8Ter) | Pathogenic |
| 2134425 | NM_000612.6(IGF2):c.89_98del (p.Glu30fs) | Pathogenic |
| 2228753 | NM_000612.6(IGF2):c.100G>C (p.Gly34Arg) | Pathogenic |
| 253036 | NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter) | Pathogenic |
| 253298 | NM_000612.6(IGF2):c.157+1_157+2insGC | Pathogenic |
| 2637040 | NM_000612.6(IGF2):c.157+5G>A | Pathogenic |
| 2682156 | NM_000612.6(IGF2):c.-6-2A>G | Pathogenic |
| 917500 | NM_000612.6(IGF2):c.110_117delinsAGGTAA (p.Leu37fs) | Pathogenic |
| 917501 | NM_000612.6(IGF2):c.101G>A (p.Gly34Asp) | Pathogenic |
| 998143 | NM_000612.6(IGF2):c.520_521insC (p.Glu174fs) | Pathogenic |
| 1196226 | NM_000612.6(IGF2):c.490C>T (p.Gln164Ter) | Likely pathogenic |
| 1275788 | NM_000612.6(IGF2):c.227del (p.Asp76fs) | Likely pathogenic |
| 1679294 | NM_000612.6(IGF2):c.59C>A (p.Ser20Ter) | Likely pathogenic |
| 2442125 | NM_000612.6(IGF2):c.106del (p.Glu36fs) | Likely pathogenic |
| 2502356 | NM_000612.6(IGF2):c.357G>A (p.Trp119Ter) | Likely pathogenic |
| 3236772 | NM_000612.6(IGF2):c.252T>G (p.Cys84Trp) | Likely pathogenic |
| 372980 | NM_000612.6(IGF2):c.97T>C (p.Cys33Arg) | Likely pathogenic |
| 4081460 | NM_000612.6(IGF2):c.184_200del (p.Arg61_Arg62insTer) | Likely pathogenic |
| 917503 | NM_000612.6(IGF2):c.195del (p.Ile66fs) | Likely pathogenic |
| 976061 | NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) | Likely pathogenic |
SpliceAI
1266 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:2133546:C:A | donor_gain | 1.0000 |
| 11:2133662:CTGC:C | acceptor_gain | 1.0000 |
| 11:2133663:TGC:T | acceptor_gain | 1.0000 |
| 11:2133664:GCCT:G | acceptor_loss | 1.0000 |
| 11:2133665:CCTG:C | acceptor_loss | 1.0000 |
| 11:2133666:C:CC | acceptor_gain | 1.0000 |
| 11:2133676:C:CT | acceptor_gain | 1.0000 |
| 11:2133676:C:T | acceptor_gain | 1.0000 |
| 11:2133679:A:T | acceptor_gain | 1.0000 |
| 11:2135364:TA:T | donor_loss | 1.0000 |
| 11:2135365:A:AC | donor_gain | 1.0000 |
| 11:2135365:ACTGA:A | donor_loss | 1.0000 |
| 11:2135366:C:CA | donor_gain | 1.0000 |
| 11:2135366:CT:C | donor_gain | 1.0000 |
| 11:2135366:CTG:C | donor_gain | 1.0000 |
| 11:2135366:CTGA:C | donor_gain | 1.0000 |
| 11:2135366:CTGAA:C | donor_gain | 1.0000 |
| 11:2135525:GGTGT:G | acceptor_gain | 1.0000 |
| 11:2135526:GTGT:G | acceptor_gain | 1.0000 |
| 11:2135527:TGT:T | acceptor_gain | 1.0000 |
| 11:2135527:TGTCT:T | acceptor_loss | 1.0000 |
| 11:2135528:GT:G | acceptor_gain | 1.0000 |
| 11:2135529:TCTGG:T | acceptor_loss | 1.0000 |
| 11:2135530:C:CC | acceptor_gain | 1.0000 |
| 11:2135531:T:A | acceptor_loss | 1.0000 |
| 11:2137191:CAG:C | donor_gain | 1.0000 |
| 11:2147804:GCCC:G | acceptor_gain | 1.0000 |
| 11:2147805:CCC:C | acceptor_gain | 1.0000 |
| 11:2147805:CCCC:C | acceptor_gain | 1.0000 |
| 11:2147806:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000103191 (11:2137354 C>T), RS1000312512 (11:2144347 G>A,T), RS1000356393 (11:2132227 C>T), RS1000693997 (11:2145571 C>T), RS1000798667 (11:2138616 C>A,G,T), RS1001024405 (11:2148499 C>A,T), RS1001044707 (11:2145342 G>A,T), RS1001171826 (11:2144606 A>G,T), RS1001253493 (11:2139871 G>A), RS1001286016 (11:2143152 C>G,T), RS1001308758 (11:2132836 C>T), RS1001362385 (11:2149460 T>C), RS1001721104 (11:2138678 CG>C), RS1001761388 (11:2143437 T>A,C), RS1001775755 (11:2149271 C>G,T)
Disease associations
OMIM: gene MIM:147470 | disease phenotypes: MIM:616489, MIM:130650, MIM:194070, MIM:180860, MIM:114500
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Silver-Russell syndrome 3 | Definitive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Silver-Russell syndrome 3 | Definitive | AD |
Mondo (5): Silver-Russell syndrome 3 (MONDO:0014663), Beckwith-Wiedemann syndrome (MONDO:0007534), Wilms tumor 1 (MONDO:0008679), Silver-Russell syndrome 1 (MONDO:0020796), colorectal cancer (MONDO:0005575)
Orphanet (4): Beckwith-Wiedemann syndrome (Orphanet:116), Nephroblastoma (Orphanet:654), Silver-Russell syndrome (Orphanet:813), NON RARE IN EUROPE: Colorectal cancer (Orphanet:466667)
HPO phenotypes
125 total (30 of 125 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000045 | Abnormal scrotum morphology |
| HP:0000047 | Hypospadias |
| HP:0000048 | Bifid scrotum |
| HP:0000062 | Ambiguous genitalia |
| HP:0000069 | Abnormality of the ureter |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000105 | Enlarged kidney |
| HP:0000121 | Nephrocalcinosis |
| HP:0000150 | Gonadoblastoma |
| HP:0000158 | Macroglossia |
| HP:0000164 | Abnormality of the dentition |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000239 | Large fontanelles |
| HP:0000269 | Prominent occiput |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000278 | Retrognathia |
| HP:0000280 | Coarse facial features |
| HP:0000324 | Facial asymmetry |
| HP:0000325 | Triangular face |
| HP:0000331 | Short chin |
| HP:0000347 | Micrognathia |
| HP:0000369 | Low-set ears |
| HP:0000411 | Protruding ear |
| HP:0000520 | Proptosis |
| HP:0000592 | Blue sclerae |
| HP:0000678 | Dental crowding |
GWAS associations
30 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000488_11 | Prostate cancer | 3.000000e-33 |
| GCST001950_3 | Femoral neck bone geometry and menarche (age at onset) | 6.000000e-06 |
| GCST001950_4 | Femoral neck bone geometry and menarche (age at onset) | 3.000000e-06 |
| GCST002058_1 | DNA methylation (variation) | 5.000000e-07 |
| GCST002112_1 | Celiac disease | 7.000000e-06 |
| GCST005024_85 | Pursuit maintenance gain | 2.000000e-06 |
| GCST005146_23 | Birth weight | 7.000000e-10 |
| GCST005984_52 | Glomerular filtration rate | 5.000000e-08 |
| GCST005985_31 | Creatinine levels | 1.000000e-09 |
| GCST006958_5 | Length of menstrual cycle | 5.000000e-08 |
| GCST007344_121 | Estimated glomerular filtration rate | 2.000000e-09 |
| GCST007344_41 | Estimated glomerular filtration rate | 2.000000e-10 |
| GCST007847_40 | Type 2 diabetes | 3.000000e-13 |
| GCST007876_134 | Estimated glomerular filtration rate | 3.000000e-12 |
| GCST008971_143 | Urate levels | 2.000000e-08 |
| GCST008972_213 | Urate levels | 1.000000e-08 |
| GCST009379_367 | Type 2 diabetes | 2.000000e-06 |
| GCST009379_368 | Type 2 diabetes | 2.000000e-08 |
| GCST009379_369 | Type 2 diabetes | 4.000000e-08 |
| GCST009379_370 | Type 2 diabetes | 1.000000e-06 |
| GCST009379_371 | Type 2 diabetes | 4.000000e-26 |
| GCST010118_120 | Type 2 diabetes | 1.000000e-16 |
| GCST010726_45 | Periventricular white matter hyperintensities | 3.000000e-06 |
| GCST012227_625 | Hip circumference adjusted for BMI | 5.000000e-11 |
| GCST012227_626 | Hip circumference adjusted for BMI | 2.000000e-11 |
| GCST012227_627 | Hip circumference adjusted for BMI | 7.000000e-10 |
| GCST90020028_785 | Hip circumference adjusted for BMI | 2.000000e-09 |
| GCST90020028_786 | Hip circumference adjusted for BMI | 1.000000e-08 |
| GCST90020028_787 | Hip circumference adjusted for BMI | 6.000000e-14 |
| GCST90020028_788 | Hip circumference adjusted for BMI | 4.000000e-09 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004704 | age at menopause |
| EFO:0022599 | DNA methylation |
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0004344 | birth weight |
| EFO:0004531 | urate measurement |
| EFO:0005665 | white matter hyperintensity measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001506 | Beckwith-Wiedemann Syndrome | C16.131.077.133; C16.131.260.080; C16.320.180.080; C16.320.447.375 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3712957 (SINGLE PROTEIN)
Clinical evidence (CIViC)
Drug × variant × indication: 5 predictive associations from 5 curated evidence items.
| Variant | Therapy | Indication | Effect | Level | CIViC |
|---|---|---|---|---|---|
| IGF2 Overexpression | Ganitumab + Gemcitabine | Pancreatic Adenocarcinoma | Sensitivity/Response | CIViC B | EID7000 |
| IGF2 Overexpression | Cabazitaxel + Linsitinib | Prostate Cancer | Sensitivity/Response | CIViC D | EID12428 |
| IGF2 Overexpression | Linsitinib | Prostate Cancer | Sensitivity/Response | CIViC D | EID412 |
| IGF2 Overexpression | Docetaxel + Cabazitaxel + Linsitinib | Prostate Cancer | Sensitivity/Response | CIViC D | EID414 |
| IGF2 Overexpression | Ganitumab | Ovarian Cancer | Sensitivity/Response | CIViC D | EID6972 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs4244809 | IGF2, IGF2-AS, INS-IGF2 | 0.00 | 0 |
CTD chemical–gene interactions
120 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases abundance, increases expression, affects expression, affects cotreatment, increases methylation (+3 more) | 6 |
| Estradiol | decreases expression, increases reaction, increases secretion, increases chemical synthesis, affects cotreatment (+3 more) | 5 |
| Benzo(a)pyrene | affects cotreatment, affects expression, decreases expression, increases expression, affects methylation | 4 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 3 |
| Resveratrol | decreases secretion, increases reaction, affects expression, decreases reaction, increases secretion (+2 more) | 3 |
| Cadmium | increases expression, decreases expression, increases abundance, affects binding, increases reaction | 3 |
| Tetrachlorodibenzodioxin | affects methylation, increases abundance, affects cotreatment, decreases expression, increases expression | 3 |
| Tobacco Smoke Pollution | decreases expression, increases expression, affects expression | 3 |
| Tretinoin | increases expression, affects binding, increases reaction, increases secretion, decreases activity (+1 more) | 3 |
| Valproic Acid | increases expression | 3 |
| trichostatin A | increases expression | 2 |
| manganese chloride | decreases expression, increases abundance, decreases methylation, affects cotreatment | 2 |
| Arsenic Trioxide | affects cotreatment, increases expression | 2 |
| Fulvestrant | affects cotreatment, increases methylation, affects localization, decreases reaction, increases expression | 2 |
| Cisplatin | affects cotreatment, increases expression, decreases response to substance | 2 |
| Curcumin | affects cotreatment, increases expression, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | decreases expression | 1 |
| (6,7-dimethoxyquinolin-4-yl)(5-methoxy-2,2-dimethyl-2H-chromen-6-yl)methyl acetate | decreases expression | 1 |
| ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate | decreases expression | 1 |
| ginger extract | decreases expression, decreases reaction, increases abundance | 1 |
| dicrotophos | increases expression | 1 |
| 4-oxoretinoic acid | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| benzo(b)fluoranthene | affects cotreatment, affects expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| lead acetate | decreases expression, decreases methylation | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| terbufos | increases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00114829 | PHASE4 | UNKNOWN | Preoperative Assessment of Colon Tumor |
| NCT00114842 | PHASE4 | COMPLETED | Magnetic Resonance (MR) Colonography With Fecal Tagging |
| NCT00114946 | PHASE4 | TERMINATED | A Study to Compare Two Avastin-Based Treatment Regimens for the Treatment of Metastatic Colorectal Cancer |
| NCT00122720 | PHASE4 | COMPLETED | The Effect of Darbepoetin Upon Rehabilitation for Colorectal Cancer Surgery |
| NCT00129870 | PHASE4 | TERMINATED | CONCEPT: Comparison of Oxaliplatin vs Conventional Methods With Calcium/Magnesium in First-Line Metastatic Colorectal Cancer |
| NCT00138060 | PHASE4 | COMPLETED | Toxicity/Benefit Ratio Optimization of Chemotherapy in Colorectal Cancer (CRC) Patients by Determination of Individual Genotypic Determinants |
| NCT00216424 | PHASE4 | TERMINATED | Capecitabine (Xeloda) and Radiation for Patients With Rectosigmoid Carcinoma |
| NCT00327093 | PHASE4 | TERMINATED | Elaboration of a Model for Predicting Efficacy of Monoclonal Antibodies (Cetuximab and Bevacizumab) in Patients With Colorectal Cancer and Liver Metastases |
| NCT00332943 | PHASE4 | COMPLETED | MR Colonography With Fecal Tagging. Barium vs. BariumFerumoxsil |
| NCT00441311 | PHASE4 | COMPLETED | Dissemination of Colorectal Cancer Screening to Primary Care Physicians |
| NCT00460837 | PHASE4 | WITHDRAWN | Comparison of Bowel Preparation in Virtual Colonoscopy (VC) - Patient Experience |
| NCT00473980 | PHASE4 | COMPLETED | Preoperative Non-steroidal Anti-inflammatory Drugs(NSAID) to Colorectal Cancer Patients |
| NCT00488904 | PHASE4 | COMPLETED | Omega-3 Fatty Acids and Postoperative Complications After Colorectal Surgery |
| NCT00496678 | PHASE4 | COMPLETED | Trial of Patient Navigation-Activation |
| NCT00502671 | PHASE4 | COMPLETED | A Study of Xeloda (Capecitabine) as Adjuvant Monotherapy in Patients With Colon Cancer. |
| NCT00559676 | PHASE4 | COMPLETED | Study of Biomarkers in Patients Undergoing Chemotherapy for Metastatic Colorectal Cancer |
| NCT00577031 | PHASE4 | COMPLETED | OBELIX Study: A Study of Avastin (Bevacizumab) in Combination With XELOX in Patients With Metastatic Cancer of the Colon or Rectum. |
| NCT00626054 | PHASE4 | COMPLETED | Comparison of Two Methods of Administration of a PEG Solution |
| NCT00812864 | PHASE4 | COMPLETED | Pharmacokinetic Study of Capecitabine in Elderly Cancer Patient (≥ 75 Years) |
| NCT00868569 | PHASE4 | UNKNOWN | Transhepatic Arterial Chemotherapy (TAC) Versus Transcatheter Arterial Chemoembolization (TACE) Plus Folfox4 as the Treatment of Unresectable Liver Metastasis of Colorectal Cancer |
| NCT00868816 | PHASE4 | COMPLETED | Oxaliplatine Based Adjuvant Chemotherapy for Stage II/III Colorectal Cancer: 8 Cycles Versus 12 Cycles |
| NCT00874406 | PHASE4 | UNKNOWN | Preoperative Transhepatic Arterial Chemotherapy (TAC) in the Treatment of Liver Metastasis of Resectable Colorectal Cancer |
| NCT00928928 | PHASE4 | COMPLETED | Oxidative Stress Markers in Open and Laparoscopic Colectomy for Cancer |
| NCT00942461 | PHASE4 | COMPLETED | Inflammatory Response in Laparoscopic and Open Colectomy |
| NCT01023633 | PHASE4 | UNKNOWN | OPTIMOX1 in Chinese mCRC Patients |
| NCT01271582 | PHASE4 | UNKNOWN | Investigation of Association Between UGT1A1 Polymorphisms and Irinotecan Toxicity in Korean Patients |
| NCT01315990 | PHASE4 | UNKNOWN | FOLFIRI in Combination With Cetuximab in the First-line Treatment of Metastatic Colorectal Cancer Including a Regular Dermal Prophylaxis to Prevent Acneiforme Follicular Exanthema |
| NCT01493713 | PHASE4 | COMPLETED | Correlation Between RECIST, Morphologic Response by CT- Histopathologic Response in Hepatic Metastasis Secondary to Colorectal Cancer |
| NCT01609660 | PHASE4 | COMPLETED | Impact of Probiotics on the Intestinal Microbiota |
| NCT01641458 | PHASE4 | COMPLETED | Pharmacology-driven Dosing of Fluoropyrimidines in Cancer Patients |
| NCT01689792 | PHASE4 | COMPLETED | A Multi-centre Study Comparing the Polyp Detection Rate of Two Different Types of Bowel Preparation: a 2-litre Solution (MOVIPREP®) Versus a Hyperosmotic and Stimulant Combined Low Volume Bowel Preparation (Sodium Picosulfate and Magnesium Citrate) |
| NCT01695772 | PHASE4 | COMPLETED | A Study of Bevacizumab Plus 5-Flurouracil (5-FU) Based Doublet Chemotherapy as Neoadjuvant Therapy for Participants With Previously Untreated Unresectable Liver-Only Metastases From Colorectal Cancer |
| NCT01695863 | PHASE4 | COMPLETED | Efficacy and Patient Satisfaction of Miralax and Gatorade Versus Movi Prep |
| NCT01706822 | PHASE4 | TERMINATED | Radial Reload Laparoscopic LAR Case Series |
| NCT01740947 | PHASE4 | TERMINATED | Does Administration of Antibiotics in Patients Undergoing Surgery for Colorectal Cancer Result in Less Complications and Better Prognosis? |
| NCT01831310 | PHASE4 | COMPLETED | Nutrition for Colorectal Cancer Patients and Neutrophil Functions |
| NCT01841294 | PHASE4 | UNKNOWN | NK Activity Modulation Induced by Intravenous Lidocaine During Colorectal Laparoscopic Surgery |
| NCT01959061 | PHASE4 | UNKNOWN | Efficacy and Safety of Raltitrexed-based Transarterial Chemoembolisation(TACE)for Colorectal Cancer Liver Metastases |
| NCT02032953 | PHASE4 | UNKNOWN | Enhancing the Anabolic Effect of Perioperative Nutrition With Insulin While Maintaining Normoglycemia |
| NCT02567331 | PHASE4 | COMPLETED | A Study of Capecitabine (Xeloda) in Patients With Metastatic Colorectal Cancer |
Related Atlas pages
- Associated diseases: Silver-Russell syndrome 3, pancreatic adenocarcinoma, prostate carcinoma, ovarian carcinoma
- Biomarker drugs (CIViC) (drugs whose response is associated with variants in this gene — CIViC predictive evidence, not targeting): Linsitinib, Ganitumab
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Beckwith-Wiedemann syndrome, ovarian cancer, ovarian carcinoma, pancreatic adenocarcinoma, prostate carcinoma, Silver-Russell syndrome 1, Silver-Russell syndrome 3, Wilms tumor 1