Alternative titles; symbols
HGNC Approved Gene Symbol: PLA2G1B
Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:120,322,115-120,327,779 (from NCBI)
Phospholipase A2 (EC 3.1.1.4) catalyzes the release of fatty acids from glycero-3-phosphocholines. The best known varieties are the digestive enzymes secreted as zymogens by the pancreas of mammals. Sequences of pancreatic PLA2 enzymes from a variety of mammals have been reported. One striking feature of these enzymes is their close homology to venom phospholipases of snakes. Other forms of PLA2 have been isolated from brain, liver, lung, spleen, intestine, macrophages, leukocytes, erythrocytes, inflammatory exudates, chondrocytes, and platelets (Seilhamer et al., 1986) .
Seilhamer et al. (1986) cloned a cDNA encoding PLA2 from porcine pancreas. In analogous human cDNA obtained from human lung, they also obtained and analyzed the apparently unique human gene encoding pancreatic PLA2. Hybridization probes made from human 'pancreatic' cDNA hybridized to two distinct genomic fragments of cobra DNA, indicating again a striking homology to one or more counterpart in one variety of snake.
Van Kuijk et al. (1987) suggested that protection of membranes from oxidative injury is an important function of phospholipase A2.
Seilhamer et al. (1986) found that the gene spans 4.9 kb and contains 3 introns.
By hybridization of the probe isolated by Seilhamer et al. (1986) against a human/mouse somatic cell hybrid panel, Sparkes et al. (1987) assigned the PLA2G1B gene to human chromosome 12.
In the course of a linkage study of spinocerebellar ataxia 2 (SCA2; 183090), Gispert et al. (1993) provided evidence that the PLA2G1B gene is located in the 12q23-q24.1 region; SCA2 was thought to be flanked by D12S58 and PLA2G1B.
Frossard and Lestringant (1995) found an association between an intronic dimorphic site in PLAG2G1B and hypertension (see 145500).
In a study of 1,094 female dizygotic twin pairs, Wilson et al. (2006) found suggestive linkage for central fat mass (see 601665) to 12q24 (lod score, 2.2); SNP analysis of 1,102 individuals selected from the twin cohort provided evidence for an association between central fat mass and SNPs in 2 genes located on chromosome 12q24, PLA2G1B and P2RX4 (600846), with p values of 0.0067 and 0.017, respectively.
Frossard, P. M., Lestringant, G. G. Association between a dimorphic site on chromosome 12 and clinical diagnosis of hypertension in three independent populations. Clin. Genet. 48: 284-287, 1995. [PubMed: 8835321] [Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb04110.x]
Gispert, S., Twells, R., Orozco, G., Brice, A., Weber, J., Heredero, L., Scheufler, K., Riley, B., Allotey, R., Nothers, C., Hillermann, R., Lunkes, A., and 17 others. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet. 4: 295-299, 1993. [PubMed: 8358438] [Full Text: https://doi.org/10.1038/ng0793-295]
Seilhamer, J. J., Randall, T. L., Johnson, L. K., Heinzmann, C., Klisak, I., Sparkes, R. S., Lusis, A. J. Novel gene exon homologous to pancreatic phospholipase A(2): sequence and chromosomal mapping of both human genes. J. Cell. Biochem. 39: 327-337, 1989. [PubMed: 2708461] [Full Text: https://doi.org/10.1002/jcb.240390312]
Seilhamer, J. J., Randall, T. L., Johnson, L. K., Lusis, A., Sparkes, R. S., Heinzman, C. Chromosomal mapping of human pancreatic PLA2 and a homologous PLA2 exon. (Abstract) J. Cell. Biochem. Suppl. 12E: 55 only, 1988.
Seilhamer, J. J., Randall, T. L., Yamanaka, M., Johnson, L. K. Pancreatic phospholipase A(2): isolation of the human gene and cDNAs from porcine pancreas and human lung. DNA 5: 519-527, 1986. [PubMed: 3028739] [Full Text: https://doi.org/10.1089/dna.1.1986.5.519]
Sparkes, R. S., Mohandas, T., Heinzmann, C., Seilhamer, J. J., Lusis, A. J., Johnson, L. K. Assignment of the gene for pancreatic phospholipase A2 to human chromosome 12. (Abstract) Cytogenet. Cell Genet. 46: 697, 1987.
van Kuijk, F. J. G. M., Sevanian, A., Handelman, G. J., Dratz, E. A. A new role for phospholipase A(2): protection of membranes from lipid peroxidation damage. Trends Biochem. Sci. 12: 31-34, 1987.
Wilson, S. G., Adam, G., Langdown, M., Reneland, R., Braun, A., Andrew, T., Surdulescu, G. L., Norberg, M., Dudbridge, F., Reed, P. W., Sambrook, P. N., Kleyn, P. W., Spector, T. D. Linkage and potential association of obesity-related phenotypes with two genes on chromosome 12q24 in a female dizygous twin cohort. Europ. J. Hum. Genet. 14: 340-348, 2006. [PubMed: 16391564] [Full Text: https://doi.org/10.1038/sj.ejhg.5201551]