Pro-IGF-II (IGF2) Human Cellexp 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, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 11p15.5

Cellular Component: extracellular space; plasma membrane; extracellular region

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

Biological Process: response to nicotine; positive regulation of catalytic activity; genetic imprinting; multicellular organismal development; positive regulation of glycogen biosynthetic process; exocrine pancreas development; female pregnancy; positive regulation of activated T cell proliferation; response to estradiol stimulus; response to radiation; platelet degranulation; positive regulation of MAPKKK cascade; regulation of transcription, DNA-dependent; positive regulation of cell proliferation; skeletal development; response to drug; response to nutrient levels; platelet activation; positive regulation of mitosis; glucose metabolic process; memory; osteoblast differentiation; positive regulation of protein kinase B signaling cascade; organ morphogenesis; positive regulation of peptidyl-tyrosine phosphorylation; response to ethanol; cellular protein metabolic process; insulin receptor signaling pathway; striated muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of insulin receptor signaling pathway; positive regulation of protein amino acid phosphorylation; blood coagulation

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