IGF2 est un gène codé par le symbole IGF2. Communément appelé aussi: Insulin-like growth factor II; IGF-II; Somatomedin-A; T3M-11-derived growth factor. IGF2 a une masse de 20.14kDa, une longueur d'acide aminé de 180, et est impliqué dans les maladies: Silver-Russell syndrome; Growth restriction, severe, with distinctive facies.
Nous proposons 20 IGF2 kits ELISA pour la détection qualitative ou quantitative de IGF2 à partir d'échantillons Humain, Souris, Rat, Bovin, Porcin, Lapin, Poulet et Cochon d'Inde.
Informations sur les Gènes et les Protéines
Résumé 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).
Résumé 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.
Spécificité tissulaire
Expressed in heart, placenta, lung, liver, muscle, kidney, tongue, limb, eye and pancreas.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the insulin family.
Modification post-traductionnelle
O-glycosylated with core 1 or possibly core 8 glycans. Thr-96 is a minor glycosylation site compared to Thr-99.
Localisation cellulaire
Secreted.
