Abstract
The human gene B4GALNT2 encodes an enzyme (β1,4-N-acetylgalactosaminyltransferase II) that controls the expression of the blood group Sda carbohydrate’s antigen. This gene is located in position 17q21,32 and consists of 11 exons. The characterization and understanding of genetic variation is a real challenge in human genetics, both for healthy individuals and diseased ones. The in silico study of the B4GALNT2 gene’s polymorphism using a bioinformatic methodology by means of analyzing various databases and open source web browsers has shown that this gene is characterized by a polymorphic profile that has a very large number of Cosmic SNPs associated with different types of cancer. The prediction of the 3D structure in silico is an important step to better understand the overall architecture of the B4GALNT2 protein. The chosen model this study is one of chondroitin synthase with a recovery percentage of 20.10% relative to the target sequence. Our findings suggest that these cosmic polymorphisms are at the origin of a cellular disorder responsible for the initiation, birth and proliferation of tumors. Bioinformatics has become an indispensable tool in identifying and predicting the function of the B4GALNT2 gene and its relation to cancer.
Highlights
The human geneBeta-1,4-N-Acetyl-Galactosaminyltransferase II (B4GALNT2) (ID: 124872, OMIM: 111730) is located on the 17q21.32 chromosome (NC_00017.11)
In recent years, several Genome-Wide Association Studies (GWAS) have identified genetic variants or susceptibility locus associated with various human diseases, including cancer (Stadler et al, 2010)
In light of this work, we can conclude that the cosmic polymorphisms we have dealt with are at the origin of a cellular disorder responsible for the initiation, birth and proliferation of tumors
Summary
Galactosaminyltransferase II (B4GALNT2) (ID: 124872, OMIM: 111730) is located on the 17q21.32 chromosome (NC_00017.11) It consists of 11 exons and encodes a glycosyltransferase that catalyzes the last step in the biosynthesis of the human Sda antigen (https://www.ncbi.nlm.nih.gov/). Single Nucleotide Polymorphisms (SNPs) are one of the most common types of genetic variations in the human genome. SNPs are point variations of a single nucleotide They are the smallest form of polymorphism because they affect only one base pair. They are distributed throughout the human genome and are the most common form of genetic variation. Cancer of the digestive tract is a real public health problem This particular type of cancer combines the involvement of genetic and environmental factors of many genes
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