The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd) is localized centromeric to the CD1 gene cluster...

The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd), was isolated from a human Chromosome (Chr) 1 cosmid library (LLNL, UK HGMP). The gene spans 11 kilobases and contains nine exons and eight introns. Four alternative transcript variants were observed in activated T cells. Three single-nucleotide polymorphisms were identified within intron 2. A variable number of GA repeats was found at position -340 from the first coding ATG. Linkage analysis using this marker in eight CEPH families showed that the SH2D2A gene is located close to the D1S2624 marker on Chr 1q21-1q22. Physical mapping of a PAC and BAC contig containing the CD1 gene cluster telomeric to D1S2624 failed to identify a clone harboring the SH2D2A gene. Thus the SH2D2A gene is located centromeric to the CD1 gene cluster on Chr 1.