Background of the antigen
NIPSNAP2 is a 286 amino acid protein that is abundantly expressed in heart and skeletal muscle. Belonging to the NIPSNAP family, NIPSNAP2 may be involved in vesicular transport. NIPSNAP2 contains a signal peptide, a transmembrane domain and two tyrosine phosphorylation sites. NIPSNAP2 is encoded by a gene mapping to human chromosome 7p11.2. Chromosomal region 7p12 is amplified in approximately 40% of glioblastomas, the most common and malignant form of central nervous system tumor. Human chromosome 7 houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome.
