The AXIN2 gene homepage

General information
Gene symbol AXIN2
Gene name axin 2
Chromosome 17
Chromosomal band q23-q24
Imprinted -
Genomic reference NG_012142.1
Transcript reference NM_004655.3
Associated with diseases WD
Citation reference(s) Pan M et al, 2011
Zhang T et al, 2010
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 128
Unique public DNA variants reported 91
Individuals with public variants 0
Hidden variants -
Notes 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. [provided by RefSeq, Jul 2008]
Also known as: AXIL; ODCRCS
Date created April 14, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.genomed.org/lovd3/genes/AXIN2
HGNC 904
Entrez Gene 8313
PubMed articles AXIN2
OMIM - Gene 604025
OMIM - Diseases WD (wilson disease)
HGMD AXIN2
GeneCards AXIN2
GeneTests AXIN2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000027 17 axin 2 NM_004655.3 - 128


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