Alternative titles; symbols
HGNC Approved Gene Symbol: EGFL6
Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:13,569,601-13,633,575 (from NCBI)
The epidermal growth factor (EGF; 131530) repeat motif defines a superfamily of diverse proteins involved in regulating a variety of cellular and physiologic processes. This motif features a series of conserved cysteines and glycines positioned in a domain of 30 to 40 residues. EGF-like repeat family members are predominantly secreted or cell surface molecules, often involved in the regulation of cell cycle, proliferation, and developmental processes.
Using a high-throughput screening-by-hybridization approach, Yeung et al. (1999) identified the EGFL6 gene. The predicted 553-amino acid EGFL6 protein has a putative N-terminal signal peptide, which suggests that it is secreted; an EGF repeat region containing 4 complete EGF-like repeats and 1 partial EGF-like repeat; an integrin association motif (RGD); 2 potential N-glycosylation sites; and a potential tyrosine phosphorylation site. Northern blot analysis of a variety of normal human tissues detected an approximately 2.4-kb EGFL6 transcript only in placenta. Among the cancer tissues tested, EGFL6 expression was found only in meningioma tumors. Screening-by-hybridization analysis of various cDNA libraries indicated EGFL6 expression in lung tumor, fetal lung, fetal skin, fetal umbilical cord, fetal liver/spleen, and placenta, but not in normal adult tissues, including lung.
Fujiwara et al. (2011) stated that Egfl6 is an integrin alpha-8 (ITGA8; 604063)/beta-1 (ITGB1; 135630) ligand that is expressed in mouse skin. They found that Egfl6 was expressed specifically in cells of the dermal papilla above the hair follicle bulge. Fujiwara et al. (2011) found that mouse nephronectin (NPNT; 610306), another integrin alpha-8/beta-1 receptor, was required to anchor arrector pili muscles to the bulge. Deletion of nephronectin in mice resulted in a compensatory increase in Egfl6 expression and a corresponding change in the insertion site for arrector pili smooth muscle from the bulge to the Egfl6-positive zone.
Buchner et al. (2000) determined that the MAEG gene contains 12 exons.
By analysis of a somatic cell hybrid mapping panel, Yeung et al. (1999) mapped the EGFL6 gene to chromosome X. They noted that a UniGene cluster corresponding to the EGFL6 gene contains an STS that has been mapped to Xp22. Buchner et al. (2000) mapped the MAEG gene to Xp22 and to the distal end of the mouse X chromosome.
Buchner, G., Orfanelli, U., Quaderi, N., Bassi, M. T., Andolfi, G., Ballabio, A., Franco, B. Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. Genomics 65: 16-23, 2000. [PubMed: 10777661] [Full Text: https://doi.org/10.1006/geno.2000.6146]
Fujiwara, H., Ferreira, M., Donati, G., Marciano, D. K., Linton, J. M., Sato, Y., Hartner, A., Sekiguchi, K., Reichardt, L. F., Watt, F. M. The basement membrane of hair follicle stem cells is a muscle cell niche. Cell 144: 577-589, 2011. [PubMed: 21335239] [Full Text: https://doi.org/10.1016/j.cell.2011.01.014]
Yeung, G., Mulero, J. J., Berntsen, R. P., Loeb, D. B., Drmanac, R., Ford, J. E. Cloning of a novel epidermal growth factor repeat containing gene EGFL6: expressed in tumor and fetal tissues. Genomics 62: 304-307, 1999. [PubMed: 10610727] [Full Text: https://doi.org/10.1006/geno.1999.6011]