IGF2 è un gene codificato dal simbolo IGF2. Comunemente indicato anche come: Insulin-like growth factor II; IGF-II; Somatomedin-A; T3M-11-derived growth factor. IGF2 ha una massa di 20.14kDa, una lunghezza di amminoacidi di 180, ed è implicato nella malattia: Silver-Russell syndrome; Growth restriction, severe, with distinctive facies.
Offriamo 22 IGF2 ELISA kit per il rilevamento qualitativo o quantitativo di IGF2 da campioni di Umano, Topo, Ratto, Bovino, Maiale, Coniglio, Scimmia, Pollo, Goat e Porcellino d'India.
Informazioni su geni e proteine
Riepilogo UniProt
The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF-II is influenced by placental lactogen. Also involved in tissue differentiation. Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation (By similarity). In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable). Acts as a ligand for integrin which is required for IGF2 signaling (PubMed:28873464).
Sommario di Entrez
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.
Specificità del tessuto
Expressed in heart, placenta, lung, liver, muscle, kidney, tongue, limb, eye and pancreas.
Coinvolgimento nella malattia
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.
Growth restriction, severe, with distinctive facies: A disease characterized by severe prenatal and postnatal growth restriction, facial dysmorphism, and short stature in the presence of normal or slightly elevated growth hormone levels.
Somiglianze di sequenza
Belongs to the insulin family.
Modifica post-translazionale
O-glycosylated with core 1 or possibly core 8 glycans. Thr-96 is a minor glycosylation site compared to Thr-99.
Posizione cellulare
Secreted.
