Insulin-Like Growth Factor II Protein (IGF2) Human Active Protein

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. [provided by RefSeq, Oct 2010]

IGF2: The insulin-like growth factors possess growth-promoting activity. In vitro, they are potent mitogens for cultured cells. IGF-II is influenced by placental lactogen and may play a role in fetal development. Epigenetic changes of DNA hypomethylation in IGF2 are a cause of Silver-Russell syndrome (SRS). 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. Belongs to the insulin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 11p15.5

Cellular Component: extracellular region; plasma membrane

Molecular Function: growth factor activity; insulin receptor binding; insulin-like growth factor receptor binding; protein binding; protein serine/threonine kinase activator activity; receptor activator activity

Biological Process: cellular protein metabolic process; genetic imprinting; insulin receptor signaling pathway; multicellular organismal development; platelet degranulation; positive regulation of activated T cell proliferation; positive regulation of catalytic activity; positive regulation of cell proliferation; positive regulation of glycogen biosynthetic process; positive regulation of insulin receptor signaling pathway; positive regulation of MAPKKK cascade; positive regulation of mitosis; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of protein amino acid phosphorylation; positive regulation of protein kinase B signaling cascade; skeletal development

Disease: Beckwith-wiedemann Syndrome; Growth Restriction, Severe, With Distinctive Facies; Silver-russell Syndrome; Wilms Tumor 1