Epidermal Growth Factor (EGF) Receptor Peptide (985-996) (human)

This gene encodes a member of the epidermal growth factor superfamily. The encoded protein is synthesized as a large precursor molecule that is proteolytically cleaved to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding the high affinity cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

EGF: EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Defects in EGF are the cause of hypomagnesemia type 4 (HOMG4); also known as renal hypomagnesemia normocalciuric. HOMG4 is a disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to mederate psychomotor retardation, and brisk tendon reflexes. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Ligand, receptor tyrosine kinase; Membrane protein, integral; Hormone

Chromosomal Location of Human Ortholog: 4q25

Cellular Component: extracellular space; lysosomal membrane; integral to membrane; plasma membrane; extracellular region

Molecular Function: transmembrane receptor protein tyrosine kinase activator activity; protein binding; growth factor activity; calcium ion binding; epidermal growth factor receptor binding

Biological Process: negative regulation of epidermal growth factor receptor signaling pathway; transmembrane receptor protein tyrosine kinase activation (dimerization); peptidyl-tyrosine phosphorylation; nerve growth factor receptor signaling pathway; activation of MAPKK activity; positive regulation of transcription, DNA-dependent; signal transduction; positive regulation of MAP kinase activity; platelet degranulation; positive regulation of epidermal growth factor receptor activity; positive regulation of cell proliferation; angiogenesis; DNA replication; positive regulation of DNA binding; STAT protein nuclear translocation; positive regulation of granule cell precursor proliferation; epidermal growth factor receptor signaling pathway; platelet activation; fibroblast growth factor receptor signaling pathway; phosphoinositide-mediated signaling; positive regulation of mitosis; branching morphogenesis of a tube; innate immune response; negative regulation of secretion; blood coagulation; positive regulation of phosphorylation

Disease: Hypomagnesemia 4, Renal