Alternative titles; symbols
HGNC Approved Gene Symbol: HCG22
Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38) : 6:31,053,449-31,059,849 (from NCBI)
By searching for genes in a region of chromosome 6 linked to diffuse panbronchiolitis (DPB; 604809), Hijikata et al. (2011) identified PBMUCL1 (613917) and PBMUCL2, which they initially called G4 and G2, respectively. They cloned the genes by RT-PCR and RACE of primary cultured human bronchial epithelial cells. The deduced 251-amino acid PBMUCL2 protein has an N-terminal signal sequence, followed by a mucin-like domain of 15 tandem serine-, threonine-, and proline-rich repeats of 11 amino acids each. The serines and threonines within the mucin-like domain may be O-glycosylated, and PBMUCL2 has a putative N-glycosylation site. RT-PCR analysis revealed expression in brain, lung, spleen, thymus, and prostate, but not in 10 other tissues examined.
Hijikata et al. (2011) determined that the PBMUCL2 gene contains 4 coding exons.
By genomic sequence analysis, Hijikata et al. (2011) mapped the PBMUCL2 gene to a mucin gene cluster on chromosome 6p21.3. The order of the clustered genes, from telomere to centromere, is DPCR1 (613928), MUC21 (616991), PBMUCL1, and PBMUCL2.
Hijikata, M., Matsushita, I., Tanaka, G., Tsuchiya, T., Ito, H., Tokunaga, K., Ohashi, J., Homma, S., Kobashi, Y., Taguchi, Y., Azuma, A., Kudoh, S., Keicho, N. Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis. Hum. Genet. 129: 117-128, 2011. [PubMed: 20981447] [Full Text: https://doi.org/10.1007/s00439-010-0906-4]