Alternative titles; symbols
HGNC Approved Gene Symbol: PTPRN
Cytogenetic location: 2q35 Genomic coordinates (GRCh38) : 2:219,289,623-219,309,401 (from NCBI)
For general information about protein-tyrosine phosphatases (PTPases), see PTPRA (176884).
Lan et al. (1994) sought to identify genes uniquely and differentially expressed in human beta islet cells of the pancreas. They isolated a gene with homology to receptor type PTPases and obtained a full-length cDNA sequence, termed IA2 by them, from several cDNA clones obtained from a human insulinoma cDNA library. IA2 encodes a 979-amino acid protein with an approximate mass of 105 kD. In contrast to most other receptor PTPases which have 2 tandem PTPase domains, the authors observed that IA2 has a single transmembrane domain and only 1 PTPase domain. Lan et al. (1994) showed by Northern blot analysis that IA2 is expressed as a 3.8-kb transcript in human brain, pituitary, pancreas, and 5 of 5 insulinoma cell lines studied.
Rabin et al. (1994) independently isolated this gene, termed ICA512 by them, based on screening of a human islet cell cDNA expression library for clones encoding proteins reactive with sera from patients with insulin-dependent diabetes mellitus (IDDM; 222100). Rabin et al. (1994) found that this autoantigen was reactive with 48% of 80 sera of IDDM patients tested.
Xie et al. (1998) showed that the PTPRN gene contains 23 exons.
Van den Maagdenberg et al. (1996) used fluorescence in situ hybridization to localize the PTPRN gene to human chromosome 2q35-q36.1. Leiter et al. (1997) mapped mouse Ptprn to mouse chromosome 1. Mouse Ptprn2 was mapped to chromosome 12.
Morahan et al. (1998) determined the location of the IA2 gene and the IAR gene (601698), both of which encode autoantigens of IDDM, on 2q and chromosome 7, respectively, of the high-resolution radiation hybrid map.
Although PTPRN has been referred to as insulinoma-associated protein-2, or IA2, in the literature, it is distinct from INSM2 (614027).
Lan, M. S., Lu, J., Goto, Y., Notkins, A. L. Molecular cloning and identification of a receptor-type protein tyrosine phosphatase, IA-2, from human insulinoma. DNA Cell Biol. 13: 505-514, 1994. [PubMed: 8024693] [Full Text: https://doi.org/10.1089/dna.1994.13.505]
Leiter, E. H., Tsumura, H., Serreze, D. V., Chapman, H. D., Rabin, D. U., Lan, M. S., Notkins, A. L. Mapping to chromosomes 1 and 12 of mouse homologs of human protein tyrosine phosphatase, receptor-type, related genes encoding pancreatic beta cell autoantigens. Mammalian Genome 8: 949-950, 1997. [PubMed: 9383296] [Full Text: https://doi.org/10.1007/s003359900619]
Morahan, G., Huang, D., Yu, W.-P., Cui, L., DeAizpurua, H., Pallen, C. J. Localization of the genes encoding the type I diabetes autoantigens, protein-tyrosine phosphatases IA2 and IAR. Mammalian Genome 9: 593-594, 1998. [PubMed: 9657860] [Full Text: https://doi.org/10.1007/s003359900824]
Rabin, D. U., Pleasic, S. M., Shapiro, J. A., Yoo-Warren, H., Oles, J., Hicks, J. M., Goldstein, D. E., Rae, P. M. Islet cell antigen 512 is a diabetes-specific islet autoantigen related to protein tyrosine phosphatases. J. Immun. 152: 3183-3188, 1994. [PubMed: 8144912]
van den Maagdenberg, A. M. J. M., Olde Weghuis, D., Rijss, J., van de Wetering, R. A. C., Wieringa, B., van Kessel, A. G., Hendriks, W. J. A. J. Assignment of the human gene for receptor-type protein tyrosine phosphatase IA-2 (PTPRN) to chromosome region 2q35-q36.1 and identification of an intragenic genetic marker. Cytogenet. Cell Genet. 73: 145-148, 1996. [PubMed: 8646884] [Full Text: https://doi.org/10.1159/000134327]
Xie, J., Zhang, B., Lan, M. S., Notkins, A. L. Genomic structure and promoter sequence of the insulin-dependent diabetes mellitus autoantigen, IA-2 (PTPRN). Genomics 54: 338-343, 1998. [PubMed: 9828138] [Full Text: https://doi.org/10.1006/geno.1998.5583]