GeneID: 169

Description:
The EGF gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid peptide hormone EGF. EGF signals via a tyrosine kinase receptor, the epidermal growth factor receptor (EGFR). It functions as a magnesiotropic hormone, crucial in maintaining cellular Mg2+ levels. It acts as a potent mitogenic factor involved in the control of growth, proliferation and differentiation of numerous cell types, such as megakaryocytes and platelets. It also acts as a neurotrophic factor on the snail Lymnaea motoneurons. Defects in this gene cause hypomagnesemia type 4 and have been associated with the growth and progression of certain cancers. Studies have shown that activated platelets in response to inflammation can secrete a number of growth factors, including EGF, with important roles in thrombus formation and angiogenesis. Polymorphisms in the EGF gene associated with platelet count in Korean populations, suggesting that the EGF locus may also influence haematological traits.

Synonyms: URG , HOMG4

Comments:
N/A

Number of entries/variants: 1

1. Parries G, Chen K, Misono KS, Cohen S, The human urinary epidermal growth factor (EGF) precursor. Isolation of a biologically active 160-kilodalton heparin-binding pro-EGF with a truncated carboxyl terminus., J. Biol. Chem. , 270(46), 27954-60, 1995 PubMed
2. Hermann PM, van Kesteren RE, Wildering WC, Painter SD, Reno JM, Smith JS, Kumar SB, Geraerts WP, Ericsson LH, Smit AB, Bulloch AG, Nagle GT, Neurotrophic actions of a novel molluscan epidermal growth factor., J. Neurosci. , 20(17), 6355-64, 2000 PubMed
3. Groenestege WM, Thébault S, van der Wijst J, van den Berg D, Janssen R, Tejpar S, van den Heuvel LP, van Cutsem E, Hoenderop JG, Knoers NV, Bindels RJ, Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia., J. Clin. Invest. , 117(8), 2260-7, 2007 PubMed
4. Stokes KY, Granger DN, Platelets: a critical link between inflammation and microvascular dysfunction., J. Physiol. (Lond.) , 590(5), 1023-34, 2012 PubMed
5. Kim YK, Oh JH, Kim YJ, Hwang MY, Moon S, Low SK, Takahashi A, Matsuda K, Kubo M, Lee J, Kim BJ, Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach., Biomed Res Int , 2015(0), 914965, 2015 PubMed