AXIN2

From Wikipedia, the free encyclopedia

Axin 2 (conductin, axil)

Identifiers

AXIN2; AXIL; DKFZp781B0869; MGC126582

External IDs

OMIM: 604025 MGI: 1270862 HomoloGene: 3420

Gene ontology
Molecular Function:	• signal transducer activity • protein binding
Cellular Component:	• intracellular • nucleus
Biological Process:	• somitogenesis • intramembranous ossification • signal transduction • Wnt receptor signaling pathway • multicellular organismal development • negative regulation of cell proliferation • regulation of Wnt receptor signaling pathway • negative regulation of osteoblast differentiation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004655 (mRNA)
NP_004646 (protein)

XM_988944 (mRNA)
XP_994038 (protein)

Location

Chr 17: 60.96 - 60.99 Mb

Chr 11: 108.74 - 108.77 Mb

Pubmed search

[1]

[2]

Axin 2 (conductin, axil), also known as AXIN2, is a human gene.^[1]

The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair.^[1]

[edit] References

^ ^a ^b Entrez Gene: AXIN2 axin 2 (conductin, axil).

[edit] Further reading

Kikuchi A (2000). "Modulation of Wnt signaling by Axin and Axil.". Cytokine Growth Factor Rev. 10 (3-4): 255-65. PMID 10647780.
Segditsas S, Tomlinson I (2007). "Colorectal cancer and genetic alterations in the Wnt pathway.". Oncogene 25 (57): 7531-7. doi:10.1038/sj.onc.1210059. PMID 17143297.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. PMID 8889548.
Mai M, Qian C, Yokomizo A, et al. (1999). "Cloning of the human homolog of conductin (AXIN2), a gene mapping to chromosome 17q23-q24.". Genomics 55 (3): 341-4. doi:10.1006/geno.1998.5650. PMID 10049590.
von Kries JP, Winbeck G, Asbrand C, et al. (2000). "Hot spots in beta-catenin for interactions with LEF-1, conductin and APC.". Nat. Struct. Biol. 7 (9): 800-7. doi:10.1038/79039. PMID 10966653.
Liu W, Dong X, Mai M, et al. (2000). "Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling.". Nat. Genet. 26 (2): 146-7. doi:10.1038/79859. PMID 11017067.
Dong X, Seelan RS, Qian C, et al. (2001). "Genomic structure, chromosome mapping and expression analysis of the human AXIN2 gene.". Cytogenet. Cell Genet. 93 (1-2): 26-8. PMID 11474173.
Leung JY, Kolligs FT, Wu R, et al. (2002). "Activation of AXIN2 expression by beta-catenin-T cell factor. A feedback repressor pathway regulating Wnt signaling.". J. Biol. Chem. 277 (24): 21657-65. doi:10.1074/jbc.M200139200. PMID 11940574.
Anderson CB, Neufeld KL, White RL (2002). "Subcellular distribution of Wnt pathway proteins in normal and neoplastic colon.". Proc. Natl. Acad. Sci. U.S.A. 99 (13): 8683-8. doi:10.1073/pnas.122235399. PMID 12072559.
Schwarz-Romond T, Asbrand C, Bakkers J, et al. (2002). "The ankyrin repeat protein Diversin recruits Casein kinase Iepsilon to the beta-catenin degradation complex and acts in both canonical Wnt and Wnt/JNK signaling.". Genes Dev. 16 (16): 2073-84. doi:10.1101/gad.230402. PMID 12183362.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Lammi L, Arte S, Somer M, et al. (2004). "Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.". Am. J. Hum. Genet. 74 (5): 1043-50. doi:10.1086/386293. PMID 15042511.
Kouzmenko AP, Takeyama K, Ito S, et al. (2004). "Wnt/beta-catenin and estrogen signaling converge in vivo.". J. Biol. Chem. 279 (39): 40255-8. doi:10.1074/jbc.C400331200. PMID 15304487.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Hughes TA, Brady HJ (2005). "Expression of axin2 is regulated by the alternative 5'-untranslated regions of its mRNA.". J. Biol. Chem. 280 (9): 8581-8. doi:10.1074/jbc.M410806200. PMID 15611123.
Hughes TA, Brady HJ (2005). "E2F1 up-regulates the expression of the tumour suppressor axin2 both by activation of transcription and by mRNA stabilisation.". Biochem. Biophys. Res. Commun. 329 (4): 1267-74. doi:10.1016/j.bbrc.2005.02.102. PMID 15766563.
Koinuma K, Yamashita Y, Liu W, et al. (2006). "Epigenetic silencing of AXIN2 in colorectal carcinoma with microsatellite instability.". Oncogene 25 (1): 139-46. doi:10.1038/sj.onc.1209009. PMID 16247484.
Liu W, Rui H, Wang J, et al. (2006). "Axin is a scaffold protein in TGF-beta signaling that promotes degradation of Smad7 by Arkadia.". EMBO J. 25 (8): 1646-58. doi:10.1038/sj.emboj.7601057. PMID 16601693.
Lejeune S, Guillemot F, Triboulet JP, et al. (2006). "Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.". Hum. Mutat. 27 (10): 1064. doi:10.1002/humu.9460. PMID 16941501.