Alternative titles; symbols
HGNC Approved Gene Symbol: ZNRD2
Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38) : 11:65,570,477-65,571,888 (from NCBI)
The centromere plays an essential role in the pairing and partitioning of replicated chromosomes in mitosis and meiosis and is recognized by anticentromere antibodies in patients with autoimmune disorders. By immunoscreening a cDNA library with serum from a Sjogren syndrome (270150) patient with anticentromere antibodies, Muro et al. (1998) isolated a cDNA encoding SSSCA1, which they referred to as p27 due to its molecular mass in Western blot analysis. The deduced 199-amino acid, leucine-rich protein has an N terminus with many charged residues and a potential phosphorylation site; 2 short proline-rich stretches; and a potential C-terminal phosphorylation site. Immunofluorescence analysis failed to demonstrate centromeric or other staining. Immunoblot analysis with recombinant SSSCA1 determined that approximately 2% of patients with anticentromere antibodies had anti-SSSCA1 antibodies, while less than 1% of autoimmune patients without anticentromere antibodies had anti-SSSCA1 antibodies. All 5 seropositive patients had a diagnosis of scleroderma (see 181750) or Sjogren syndrome with internal organ involvement.
Gross (2021) mapped the ZNRD2 gene to chromosome 11q13.1 based on an alignment of the ZNRD2 sequence (GenBank BC014791) with the genomic sequence (GRCh38).
Gross, M. B. Personal Communication. Baltimore, Md. 8/16/2021.
Muro, Y., Yamada, T., Himeno, M., Sugimoto, K. cDNA cloning of a novel autoantigen targeted by a minor subset of anti-centromere antibodies. Clin. Exp. Immun. 111: 372-376, 1998. [PubMed: 9486406] [Full Text: https://doi.org/10.1046/j.1365-2249.1998.00517.x]