Human Gene AXIN2 (ENST00000307078.10) from GENCODE V44
Description: Homo sapiens axin 2 (AXIN2), transcript variant 1, mRNA. (from RefSeq NM_004655) RefSeq Summary (NM_004655): 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]. Gencode Transcript: ENST00000307078.10 Gencode Gene: ENSG00000168646.14 Transcript (Including UTRs) Position: hg38 chr17:65,528,563-65,561,648 Size: 33,086 Total Exon Count: 11 Strand: - Coding Region Position: hg38 chr17:65,529,976-65,558,620 Size: 28,645 Coding Exon Count: 10
ID:AXIN2_HUMAN DESCRIPTION: RecName: Full=Axin-2; AltName: Full=Axin-like protein; Short=Axil; AltName: Full=Axis inhibition protein 2; AltName: Full=Conductin; FUNCTION: Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta- catenin and APC by GSK3B (By similarity). SUBUNIT: Interacts with glycogen synthase kinase-3 beta (GSK3B) and beta-catenin. The interaction between axin and beta-catenin occurs via the armadillo repeats contained in beta-catenin (By similarity). Interacts with SMAD7 and RNF111. Interacts with ANKRD6. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Expressed in brain and lymphoblast. DOMAIN: The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2 (By similarity). PTM: Probably phosphorylated by GSK3B and dephosphorylated by PP2A (By similarity). PTM: ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP- ribosylated protein is recognized by RNF146, followed by ubiquitination and subsequent activation of the Wnt signaling pathway. PTM: Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation and subsequent activation of the Wnt signaling pathway. Deubiquitinated by USP34, deubiquitinated downstream of beta-catenin stabilization step: deubiquitination is important Wnt signaling to positively regulate beta-catenin (CTNBB1)-mediated transcription. DISEASE: Defects in AXIN2 are involved in colorectal cancer (CRC) [MIM:114500]. They appear to be specifically associated with defective mismatch repair. DISEASE: Defects in AXIN2 are the cause of oligodontia-colorectal cancer syndrome (ODCRCS) [MIM:608615]. Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types. SIMILARITY: Contains 1 DIX domain. SIMILARITY: Contains 1 RGS domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AXIN2ID456ch17q24.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF08833 - Axin beta-catenin binding domain PF00778 - DIX domain PF00615 - Regulator of G protein signaling domain
ModBase Predicted Comparative 3D Structure on Q9Y2T1
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
