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Gene Review

DLG5  -  discs, large homolog 5 (Drosophila)

Homo sapiens

Synonyms: Discs large protein P-dlg, Disks large homolog 5, KIAA0583, LP-DLG, P-DLG5, ...
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Disease relevance of DLG5

  • BACKGROUND AND AIMS: Recent data suggest identification of causal genetic variants for inflammatory bowel disease in the DLG5 gene and in the organic cation transporter (OCTN) cluster, both situated in previously described linkage regions [1].
  • Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease [1].
  • METHODS: A cohort of 2032 individuals was genotyped for disease-associated OCTN and DLG5 variants, including 981 patients with IBD (CD, n = 769; ulcerative colitis, n = 186; indeterminate colitis, n = 26) followed up at a tertiary IBD center [2].
  • METHODS: Six DLG5 variants (p.R30Q, p.P1371Q, p.G1066G, rs2289308, DLG_e26, p.D1507D) were genotyped in two study populations: (1) German IBD patients (CD n = 250; ulcerative colitis (UC) n = 150) and German healthy controls (n = 422); (2) Hungarian IBD patients (CD n = 144; UC n = 124) and Hungarian healthy controls (n = 205) [3].
  • Investigation of association of the DLG5 gene with psoriatic arthritis [4].

High impact information on DLG5


Chemical compound and disease context of DLG5


Biological context of DLG5


Anatomical context of DLG5


Other interactions of DLG5


Analytical, diagnostic and therapeutic context of DLG5


  1. Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease. Török, H.P., Glas, J., Tonenchi, L., Lohse, P., Müller-Myhsok, B., Limbersky, O., Neugebauer, C., Schnitzler, F., Seiderer, J., Tillack, C., Brand, S., Brünnler, G., Jagiello, P., Epplen, J.T., Griga, T., Klein, W., Schiemann, U., Folwaczny, M., Ochsenkühn, T., Folwaczny, C. Gut (2005) [Pubmed]
  2. Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD. Vermeire, S., Pierik, M., Hlavaty, T., Claessens, G., van Schuerbeeck, N., Joossens, S., Ferrante, M., Henckaerts, L., Bueno de Mesquita, M., Vlietinck, R., Rutgeerts, P. Gastroenterology (2005) [Pubmed]
  3. DLG5 variants in inflammatory bowel disease. Büning, C., Geerdts, L., Fiedler, T., Gentz, E., Pitre, G., Reuter, W., Luck, W., Buhner, S., Molnar, T., Nagy, F., Lonovics, J., Dignass, A., Landt, O., Nickel, R., Genschel, J., Lochs, H., Schmidt, H.H., Witt, H. Am. J. Gastroenterol. (2006) [Pubmed]
  4. Investigation of association of the DLG5 gene with psoriatic arthritis. Ho, P., Worthington, J., Bruce, I.N., Barton, A. Ann. Rheum. Dis. (2007) [Pubmed]
  5. Genetic variation in DLG5 is associated with inflammatory bowel disease. Stoll, M., Corneliussen, B., Costello, C.M., Waetzig, G.H., Mellgard, B., Koch, W.A., Rosenstiel, P., Albrecht, M., Croucher, P.J., Seegert, D., Nikolaus, S., Hampe, J., Lengauer, T., Pierrou, S., Foelsch, U.R., Mathew, C.G., Lagerstrom-Fermer, M., Schreiber, S. Nat. Genet. (2004) [Pubmed]
  6. HDLG5/KIAA0583, encoding a MAGUK-family protein, is a primary progesterone target gene in breast cancer cells. Purmonen, S., Ahola, T.M., Pennanen, P., Aksenov, N., Zhuang, Y.H., Tuohimaa, P., Ylikomi, T. Int. J. Cancer (2002) [Pubmed]
  7. Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men. Friedrichs, F., Brescianini, S., Annese, V., Latiano, A., Berger, K., Kugathasan, S., Broeckel, U., Nikolaus, S., Daly, M.J., Schreiber, S., Rioux, J.D., Stoll, M. Hum. Genet. (2006) [Pubmed]
  8. Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease. Gazouli, M., Mantzaris, G., Archimandritis, A.J., Nasioulas, G., Anagnou, N.P. World J. Gastroenterol. (2005) [Pubmed]
  9. The cloning, genomic organization and tissue expression profile of the human DLG5 gene. Shah, G., Brugada, R., Gonzalez, O., Czernuszewicz, G., Gibbs, R.A., Bachinski, L., Roberts, R. BMC Genomics (2002) [Pubmed]
  10. Down-regulation of RAB6KIFL/KIF20A, a kinesin involved with membrane trafficking of discs large homologue 5, can attenuate growth of pancreatic cancer cell. Taniuchi, K., Nakagawa, H., Nakamura, T., Eguchi, H., Ohigashi, H., Ishikawa, O., Katagiri, T., Nakamura, Y. Cancer Res. (2005) [Pubmed]
  11. Identification of a novel human homolog of the Drosophila dlg, P-dlg, specifically expressed in the gland tissues and interacting with p55. Nakamura, H., Sudo, T., Tsuiki, H., Miyake, H., Morisaki, T., Sasaki, J., Masuko, N., Kochi, M., Ushio, Y., Saya, H. FEBS Lett. (1998) [Pubmed]
  12. Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes. Bowles, K.R., Abraham, S.E., Brugada, R., Zintz, C., Comeaux, J., Sorajja, D., Tsubata, S., Li, H., Brandon, L., Gibbs, R.A., Scherer, S.E., Bowles, N.E., Towbin, J.A. Genomics (2000) [Pubmed]
  13. Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease. Yamazaki, K., Takazoe, M., Tanaka, T., Ichimori, T., Saito, S., Iida, A., Onouchi, Y., Hata, A., Nakamura, Y. J. Hum. Genet. (2004) [Pubmed]
  14. Genetic variants in TNF-alpha but not DLG5 are associated with inflammatory bowel disease in a large United Kingdom cohort. Tremelling, M., Waller, S., Bredin, F., Greenfield, S., Parkes, M. Inflamm. Bowel Dis. (2006) [Pubmed]
  15. Interaction of lp-dlg/KIAA0583, a membrane-associated guanylate kinase family protein, with vinexin and beta-catenin at sites of cell-cell contact. Wakabayashi, M., Ito, T., Mitsushima, M., Aizawa, S., Ueda, K., Amachi, T., Kioka, N. J. Biol. Chem. (2003) [Pubmed]
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