HGNC Approved Gene Symbol: PGM2
Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:37,826,686-37,862,937 (from NCBI)
Hopkinson and Harris (1965) presented evidence for a second structural locus controlling phosphoglucomutase; see PGM1 (171900).
Maliekal et al. (2007) isolated phosphopentomutase from human erythrocytes and found that it copurified with a 68-kD (612-amino acid) protein that was identified by mass spectrometry as phosphoglucomutase-2 (PGM2), a protein of the alpha-D-phosphohexomutase family. The PGM2 protein shares about 20% identity with mammalian PGM1. Sequence analysis suggested that PGM2 is a cytosolic protein. Quantitative RT-PCR of mouse tissues detected the highest expression levels of PGM2 in lung, spleen, and thymus.
Maliekal et al. (2007) overexpressed and purified PGM2 and PGM2L1 (611610) in E. coli and found that PGM2 acted more than 10-fold better as a phosphopentomutase (both on deoxyribose 1-phosphate and on ribose 1-phosphate) than as a phosphoglucomutase. Maliekal et al. (2007) speculated that PGM2 may play a role in congenital immunodeficiencies. They noted that phosphopentomutase uses ribose 1-phosphate and deoxyribose 1-phosphate, which are formed by purine nucleoside phosphorylase and uridine phosphorylase, and that the absence of phosphopentomutase should result in the accumulation of ribose 1-phosphate and deoxyribose 1-phosphate and therefore in a functional block of purine nucleoside phosphorylase.
Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).
By cell hybrid studies, PGM2 was assigned to chromosome 4 (McAlpine et al., 1975). The smallest region of overlap (SRO) derived from hybrid cell studies by Francke and Brown (1978), Sparkes et al. (1978, 1978), and Wijnen et al. (1977) was 4p14-q12.
Francke, U., Brown, S. Regional assignment of genes for phosphoglucomutase-2 and peptidase S to 4pter-4q21 in man. Cytogenet. Cell Genet. 22: 401-405, 1978. [PubMed: 752511] [Full Text: https://doi.org/10.1159/000130982]
Hopkinson, D. A., Harris, H. Evidence for a second 'structural' locus determining human phosphoglucomutase. Nature 208: 410-412, 1965. [PubMed: 5885461] [Full Text: https://doi.org/10.1038/208410a0]
Maliekal, P., Sokolova, T., Vertommen, D., Veiga-da-Cunha, M., Van Schaftingen, E. Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family. J. Biol. Chem. 282: 31844-31851, 2007. [PubMed: 17804405] [Full Text: https://doi.org/10.1074/jbc.M706818200]
McAlpine, P. J., Mohandas, T., Komarnicki, L., Niewczas-Late, V., Vust, A., Hamerton, J. L. Further data on the assignment of the phosphoglucomutase (2) (PGM-2) gene locus to chromosome 4 in man. Birth Defects Orig. Art. Ser. 11(3): 198-199, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 368-369, 1975. [PubMed: 1203483]
Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.
Sparkes, R. S., Mohandas, T., Sparkes, M. C., Shulkin, J. D. Human PGM-2 locus mapped to 4pter-q25. Exp. Cell Res. 111: 492-495, 1978. [PubMed: 564278] [Full Text: https://doi.org/10.1016/0014-4827(78)90200-8]
Sparkes, R. S., Mohandas, T., Sparkes, M. C., Shulkin, J. D. Human PGM-2 (EC 3.7.5.1) mapped to 4pter-4q25. Cytogenet. Cell Genet. 22: 406-407, 1978. [PubMed: 752512] [Full Text: https://doi.org/10.1159/000130983]
Wijnen, L. M. M., Grzeschik, K.-H., Pearson, P. L., Meera Khan, P. The human PGM-2 and its chromosomal localization in man-mouse hybrids. Hum. Genet. 37: 271-278, 1977. [PubMed: 885546] [Full Text: https://doi.org/10.1007/BF00393608]