Alternative titles; symbols
HGNC Approved Gene Symbol: NIPSNAP2
Cytogenetic location: 7p11.2 Genomic coordinates (GRCh38): 7:55,964,585-56,000,179 (from NCBI)
Chromosomal region 7p12, which contains the EGFR (131550) gene, is amplified in approximately 40% of glioblastomas, the most common and malignant form of central nervous system tumor. By screening DNA from glioblastomas with ESTs from this region, Wang et al. (1998) identified a gene that was amplified in 2 of 12 tumors and designated it GBAS (glioblastoma amplified sequence). The predicted 286-amino acid protein contains a signal peptide, a transmembrane domain, and 2 tyrosine phosphorylation sites. Northern blot analysis revealed that the 2.2-kb GBAS transcript is expressed in various tissues, most abundantly in heart and skeletal muscle.
Seroussi et al. (1998) identified GBAS as a member of the NIPSNAP gene family and designated it NIPSNAP2. See NIPSNAP1 (603249). They also identified cDNAs encoding mouse Nipsnap2. The predicted mouse and human NIPSNAP2 proteins are 91% identical.
By use of a radiation hybrid panel, Wang et al. (1998) mapped the GBAS gene to within approximately 880 kb of EGFR at 7p12.
Seroussi, E., Pan, H.-Q., Kedra, D., Roe, B. A., Dumanski, J. P. Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family. Gene 212: 13-20, 1998. [PubMed: 9661659] [Full Text: https://doi.org/10.1016/s0378-1119(98)00098-5]
Wang, X.-Y., Smith, D. I., Lui, W., James, C. D. GBAS, a novel gene encoding a protein with tyrosine phosphorylation sites and a transmembrane domain, is co-amplified with EGFR. Genomics 49: 448-451, 1998. [PubMed: 9615231] [Full Text: https://doi.org/10.1006/geno.1998.5239]