Aliases for IGF2R Gene
External Ids for IGF2R Gene
This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate, although the binding sites for either are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. While the related mouse gene shows exclusive expression from the maternal allele, imprinting of the human gene appears to be polymorphic, with only a minority of individuals showing expression from the maternal allele. [provided by RefSeq, Apr 2013]
GeneCards Summary for IGF2R Gene
IGF2R (Insulin-Like Growth Factor 2 Receptor) is a Protein Coding gene. Diseases associated with IGF2R include hepatocellular carcinoma and simpson-golabi-behmel syndrome. Among its related pathways are ERK Signaling and GPCR Pathway. GO annotations related to this gene include identical protein binding and transporter activity.
UniProtKB/Swiss-Prot for IGF2R Gene
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 prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4.
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 and in adults, mediate an increase in glucose uptake through upregulation of Glut4 expression. Two isoforms of the IR exist; fetal IR-A and adult IR-B. IGF1R homodimers are activated by IGF-I and IGF-II and mediate pre- and postnatal growth. IGF2R sequesters IGF-II and acts to regulate its levels. IR-IGF1R heterodimers exist and, like IGF1R homodimers, are activated by IGF-I and IGF-II. IRs and IGFRs mediate their intracellular actions through the PI 3-K and RAS/RAF/MAPK signaling pathways and downstream effectors include mTOR, p70 S6 kinase, ERK and JNK. Many tumors have altered expression of IGF1R and its ligands and this constitutes an early, possible initiating, event in tumorigenesis. Decreases in IR signaling causing insulin resistance is a major component in the development of type 2 diabetes and congenital mutations in the IR can cause the fatal Donohue syndrome.