HGNC Approved Gene Symbol: SNRPD2
Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,687,454-45,692,316 (from NCBI)
The Sm proteins are components of the U1, U2, U4/U6 and U5 small ribonucleoproteins (snRNPs). As many as 10 or more proteins may be assembled into these complexes. Some of the Sm proteins are shared between snRNPs while others are specific to particular snRNPs. Among the core ribonucleoproteins are 3 distinct subunits designated D1 (601063), D2, and D3 (601062). They were originally thought to be a single species. The D proteins with the B subunit (182282) are the primary autoantigens for the anti-Sm antibodies produced by patients with lupus erythematosus (Lehmeier et al., 1994). Subunit D1 was cloned by Rokeach et al. (1988). Lehmeier et al. (1994) obtained partial amino acid sequence for the D2 and D3 proteins. Degenerate oligomers were designed and used to isolate D2 cDNAs from a HeLa cell library. The sequence of the D2 cDNA predicts a 118-amino acid protein with less than 15% identity to D1 or D3. Recombinantly expressed protein could be precipitated with anti-Sm antibodies.
Lehmeier, T., Raker, V., Hermann, H., Luhrmann, R. cDNA cloning of the Sm proteins D2 and D3 from human small nuclear ribonucleoproteins: evidence for a direct D1-D2 interaction. Proc. Nat. Acad. Sci. 91: 12317-12321, 1994. [PubMed: 7527560] [Full Text: https://doi.org/10.1073/pnas.91.25.12317]
Rokeach, L. A., Haselby, J. A., Hoch, S. O. Molecular cloning of a cDNA encoding the human Sm-D antigen. Proc. Nat. Acad. Sci. 85: 4832-4836, 1988. [PubMed: 3260384] [Full Text: https://doi.org/10.1073/pnas.85.13.4832]