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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). [provided by RefSeq, Nov 2015]
IGF2R (Insulin Like Growth Factor 2 Receptor) is a Protein Coding gene. Diseases associated with IGF2R include Hepatocellular Carcinoma and Inclusion-Cell Disease. Among its related pathways are Vesicle-mediated transport and p70S6K Signaling. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and enzyme binding.
Insulin receptors (IRs) and insulin-like growth factor receptors (IGFRs) are formed from two subunits, each of which is comprised of an extracellular alpha-subunit and a transmembrane beta-subunit with intracellular tyrosine kinase activity. IR homodimers are activated by insulin.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001965 | G-protein alpha-subunit binding | IEA | -- |
GO:0001972 | retinoic acid binding | IEA | -- |
GO:0005010 | insulin-like growth factor-activated receptor activity | TAS | 10799489 |
GO:0005515 | protein binding | IDA,IPI | 10900005 |
GO:0005520 | insulin-like growth factor binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005641 | nuclear envelope lumen | IEA | -- |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
|
PPAR Pathway
.66
Rac1 Pathway
.65
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | Apoptosis Pathway |
.39
|
|
3 | Clathrin derived vesicle budding | ||
4 | Innate Immune System |
.61
|
|
5 | MAPK Signaling: Mitogen Stimulation Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001889 | liver development | IEA | -- |
GO:0006898 | receptor-mediated endocytosis | TAS | 10799489 |
GO:0007041 | lysosomal transport | IBA,IEA | 21873635 |
GO:0007165 | signal transduction | TAS | 7753549 |
GO:0007186 | G protein-coupled receptor signaling pathway | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cerliponase alfa | Approved, Investigational | Pharma | Target, ligand | 0 | ||
Mecasermin | Approved, Investigational | Pharma | Target | 108 | ||
Mecasermin rinfabate | Approved | Pharma | Target | 0 | ||
alpha-D-mannose 6-phosphate | Experimental | Pharma | Target | 0 | ||
mannose | Investigational | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
GSK 1838705 |
|
1116235-97-2 |
|
|
||
Insulin (human) recombinant |
|
11061-68-0 |
|
|
||
Picropodophyllotoxin |
|
477-47-4 |
|
|
Compound | Action | Cas Number |
---|---|---|
Demethylasterriquinone B1 | Selective insulin RTK activator | 78860-34-1 |
GSK 1838705 | Potent IR and IGF1R inhibitor; also inhibits anaplastic lymphoma kinase (ALK) | 1116235-97-2 |
Insulin (human) recombinant | Endogenous peptide agonist | 11061-68-0 |
Picropodophyllotoxin | Selective IGF1R inhibitor | 477-47-4 |
PQ 401 | IGF1R inhibitor | 196868-63-0 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | IGF2R 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CI-MPR/IGF2R 33 |
|
OneToOne | |
IGF2R 32 |
|
||||
rat (Rattus norvegicus) |
Mammalia | Igf2r 32 |
|
||
mouse (Mus musculus) |
Mammalia | Igf2r 17 33 32 |
|
||
cow (Bos Taurus) |
Mammalia | IGF2R 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
M6P/IGF2R 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
oppossum (Monodelphis domestica) |
Mammalia | IGF2R 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | IGF2R 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | igf2r 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2029 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | igf2r 33 32 |
|
OneToOne | |
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5040 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Lerp 33 |
|
OneToOne | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MRL1 35 |
|
|
|
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne |
SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs121434587 | pathogenic, Hepatocellular carcinoma | 160,069,961(+) | G/T | coding_sequence_variant, missense_variant | |
rs121434588 | pathogenic, Hepatocellular carcinoma | 160,070,006(+) | G/A | coding_sequence_variant, missense_variant | |
rs193920850 | uncertain-significance, Malignant tumor of prostate | 160,062,621(+) | T/C | splice_donor_variant | |
rs8191933 | benign, not specified | 160,096,440(+) | C/T | coding_sequence_variant, synonymous_variant | |
rs1000044342 | -- | 160,105,222(+) | G/A | 3_prime_UTR_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1844e212 | CNV | loss | 25503493 |
esv1004150 | CNV | deletion | 20482838 |
esv1551954 | CNV | insertion | 17803354 |
esv1707140 | CNV | deletion | 17803354 |
esv23071 | CNV | loss | 19812545 |
esv2664271 | CNV | deletion | 23128226 |
esv2733038 | CNV | deletion | 23290073 |
esv2733039 | CNV | deletion | 23290073 |
esv2733041 | CNV | deletion | 23290073 |
esv2733042 | CNV | deletion | 23290073 |
esv2733043 | CNV | deletion | 23290073 |
esv2733044 | CNV | deletion | 23290073 |
esv2733045 | CNV | deletion | 23290073 |
esv2759484 | CNV | gain+loss | 17122850 |
esv28288 | CNV | loss | 19812545 |
esv35098 | CNV | gain | 17911159 |
esv3611425 | CNV | gain | 21293372 |
esv3611426 | CNV | loss | 21293372 |
nsv1074029 | CNV | deletion | 25765185 |
nsv1074441 | CNV | deletion | 25765185 |
nsv1126082 | CNV | deletion | 24896259 |
nsv1140374 | OTHER | inversion | 24896259 |
nsv472314 | CNV | novel sequence insertion | 20440878 |
nsv5564 | CNV | insertion | 18451855 |
nsv604996 | CNV | loss | 21841781 |
nsv818463 | CNV | gain | 17921354 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hepatocellular carcinoma |
|
|
inclusion-cell disease |
|
|
scheie syndrome |
|
|
mannosidosis, alpha b, lysosomal |
|
|
glycogen storage disease ii |
|