AXIN2 axin 2

Gene ID: 8313, updated on 22-Jan-2023
Gene type: protein coding
Also known as: AXIL; ODCRCS

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Colorectal cancer MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome	See labs
Oligodontia-cancer predisposition syndrome MedGen: C1837750OMIM: 608615GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-12-08) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-12-08) ClinGen Genome Curation Page

Genomic context

Location:: 17q24.1

Sequence:: Chromosome: 17; NC_000017.11 (65528563..65561648, complement)

Total number of exons:: 14

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for AXIN2 variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

AXIN2 database
BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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