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Gene Review

AXIN2  -  axin 2

Homo sapiens

Synonyms: AXIL, Axil, Axin-2, Axin-like protein, Axis inhibition protein 2, ...
 
 
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Disease relevance of AXIN2

 

High impact information on AXIN2

  • Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling [5].
  • Several examples of alternative UTRs have been characterized, including those found in AXIN2, FGF1 and BRCA1 [6].
  • Conductin is up-regulated during mitosis, localizes along the mitotic spindles of colon cancer cells, and binds to polo-like kinase 1 [7].
  • Here we demonstrate that Wnt/beta-catenin signaling causes CIN via up-regulation of conductin [7].
  • Knock-down of conductin by small interfering RNA in colon carcinoma cells or gene ablation in mouse embryo fibroblasts enforces the checkpoint [7].
 

Biological context of AXIN2

  • Genomic structure, chromosome mapping and expression analysis of the human AXIN2 gene [3].
  • More than half of the tumors with heterozygote mutations in AXIN2 were concurrently mutated in APC [8].
  • To investigate whether alterations in conductin may also be involved in the pathogenesis of sporadic HBs, 37 HBs and five HB cell lines were screened for mutations using single-strand conformation polymorphism (SSCP) analysis, reverse transcription-polymerase chain reaction (RT-PCR), and direct sequencing [2].
  • In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis [9].
  • Epigenetic silencing of AXIN2 in colorectal carcinoma with microsatellite instability [10].
 

Anatomical context of AXIN2

  • Northern blot analysis from different human organs demonstrated that the AXIN2 gene is highly expressed in human thymus, prostate, testis, small intestine and ovarian tissues but expressed at a lower level in colon [3].
  • In situ hybridization analysis shows that conductin is expressed in various embryonal tissues known to be regulated by wnts, such as the developing brain, mesenchyme below the epidermis, lung mesenchyme, and kidney [11].
  • Axin2 negatively regulates both expansion of osteoprogenitors and maturation of osteoblasts through its modulation on Wnt/beta-catenin signaling [12].
 

Associations of AXIN2 with chemical compounds

  • An association between human cancer risk and a single nucleotide polymorphism (SNP) at codon 50 of the AXIN2 gene, encoding either proline (CCT) or serine (TCT), remains undefined [4].
  • Regions spanning the G8 and G7 repeat sequences of BAX and AXIN2 were sequenced for mutations including expansion and deletion abnormalities [13].
  • While R. culicivorax did not adapt to the leaf axil habitat, all plants were without larvae for 5 weeks after treatment with temephos [14].
 

Physical interactions of AXIN2

  • We also show that direct activation of G proteins in vivo with GTPgammaS in the absence of exogenous Wnt will disrupt GSK3beta/Axin2 complexes and stabilize beta-catenin [15].
 

Regulatory relationships of AXIN2

  • We found that the rat Axil gene was strongly induced upon neoplastic transformation of RK3E cells by mutant beta-catenin or gamma-catenin or after ligand-induced activation of a beta-catenin-estrogen receptor fusion protein [16].
  • In this study, we show that E2F1 up-regulates the expression of axin2 [17].
 

Other interactions of AXIN2

  • Tumours with activating beta-catenin mutations revealed higher levels of conductin mRNA transcripts [2].
  • CONCLUSION: MSI occurs in urothelial cancer, but was not seen to affect the BAX G8 or AXIN2 G7 repeats in this study [13].
  • We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2 [9].
  • We searched for AXIN2 variants in a group of patients with tooth agenesis who did not have mutations of MSX1 and PAX9 [18].
  • The human axin2 gene allows transcription of messages with three different 5' untranslated regions and in the first mechanism E2F1 directly activates the transcription of only one of these species by acting at canonical E2F binding sites [19].
 

Analytical, diagnostic and therapeutic context of AXIN2

References

  1. Colorectal cancer and genetic alterations in the Wnt pathway. Segditsas, S., Tomlinson, I. Oncogene (2006) [Pubmed]
  2. Mutations and elevated transcriptional activity of conductin (AXIN2) in hepatoblastomas. Koch, A., Weber, N., Waha, A., Hartmann, W., Denkhaus, D., Behrens, J., Birchmeier, W., von Schweinitz, D., Pietsch, T. J. Pathol. (2004) [Pubmed]
  3. Genomic structure, chromosome mapping and expression analysis of the human AXIN2 gene. Dong, X., Seelan, R.S., Qian, C., Mai, M., Liu, W. Cytogenet. Cell Genet. (2001) [Pubmed]
  4. Single nucleotide polymorphism of the AXIN2 gene is preferentially associated with human lung cancer risk in a Japanese population. Kanzaki, H., Ouchida, M., Hanafusa, H., Yano, M., Suzuki, H., Aoe, M., Imai, K., Shimizu, N., Nakachi, K., Shimizu, K. Int. J. Mol. Med. (2006) [Pubmed]
  5. Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Liu, W., Dong, X., Mai, M., Seelan, R.S., Taniguchi, K., Krishnadath, K.K., Halling, K.C., Cunningham, J.M., Boardman, L.A., Qian, C., Christensen, E., Schmidt, S.S., Roche, P.C., Smith, D.I., Thibodeau, S.N. Nat. Genet. (2000) [Pubmed]
  6. Regulation of gene expression by alternative untranslated regions. Hughes, T.A. Trends Genet. (2006) [Pubmed]
  7. Aberrant Wnt/beta-catenin signaling can induce chromosomal instability in colon cancer. Hadjihannas, M.V., Brückner, M., Jerchow, B., Birchmeier, W., Dietmaier, W., Behrens, J. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  8. Genetic and epigenetic changes of components affecting the WNT pathway in colorectal carcinomas stratified by microsatellite instability. Thorstensen, L., Lind, G.E., Løvig, T., Diep, C.B., Meling, G.I., Rognum, T.O., Lothe, R.A. Neoplasia (2005) [Pubmed]
  9. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Lammi, L., Arte, S., Somer, M., Jarvinen, H., Lahermo, P., Thesleff, I., Pirinen, S., Nieminen, P. Am. J. Hum. Genet. (2004) [Pubmed]
  10. Epigenetic silencing of AXIN2 in colorectal carcinoma with microsatellite instability. Koinuma, K., Yamashita, Y., Liu, W., Hatanaka, H., Kurashina, K., Wada, T., Takada, S., Kaneda, R., Choi, Y.L., Fujiwara, S.I., Miyakura, Y., Nagai, H., Mano, H. Oncogene (2006) [Pubmed]
  11. Control of beta-catenin signaling in tumor development. Behrens, J. Ann. N. Y. Acad. Sci. (2000) [Pubmed]
  12. Craniosynostosis caused by Axin2 deficiency is mediated through distinct functions of beta-catenin in proliferation and differentiation. Liu, B., Yu, H.M., Hsu, W. Dev. Biol. (2007) [Pubmed]
  13. Microsatellite instability in multifocal urothelial carcinoma and effect on BAX and AXIN2. Walsh, A.M., Bailly, G.G., Bell, D.G., Norman, R.W., Gupta, R., Zayed, E., Nassar, B.A. The Canadian journal of urology. (2003) [Pubmed]
  14. Distribution of breeding and control of the filariasis vector Aedes samoanus in leaf axils of Pandanus in Samoa. Samarawickrema, W.A., Sone, F., Self, L.S., Cummings, R.F., Paulson, G.S. Med. Vet. Entomol. (1992) [Pubmed]
  15. Rapid, Wnt-induced changes in GSK3beta associations that regulate beta-catenin stabilization are mediated by Galpha proteins. Liu, X., Rubin, J.S., Kimmel, A.R. Curr. Biol. (2005) [Pubmed]
  16. Activation of AXIN2 expression by beta-catenin-T cell factor. A feedback repressor pathway regulating Wnt signaling. Leung, J.Y., Kolligs, F.T., Wu, R., Zhai, Y., Kuick, R., Hanash, S., Cho, K.R., Fearon, E.R. J. Biol. Chem. (2002) [Pubmed]
  17. Cross-talk between pRb/E2F and Wnt/beta-catenin pathways: E2F1 induces axin2 leading to repression of Wnt signalling and to increased cell death. Hughes, T.A., Brady, H.J. Exp. Cell Res. (2005) [Pubmed]
  18. Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis. Mostowska, A., Biedziak, B., Jagodzinski, P.P. J. Hum. Genet. (2006) [Pubmed]
  19. E2F1 up-regulates the expression of the tumour suppressor axin2 both by activation of transcription and by mRNA stabilisation. Hughes, T.A., Brady, H.J. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  20. Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. Lejeune, S., Guillemot, F., Triboulet, J.P., Cattan, S., Mouton, C., Porchet, N., Manouvrier, S., Buisine, M.P. Hum. Mutat. (2006) [Pubmed]
 
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