Homo sapiens Gene: AXIN2
Summary
InnateDB Gene IDBG-65085.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AXIN2
Gene Name axin 2
Synonyms AXIL; ODCRCS;
Species Homo sapiens
Ensembl Gene ENSG00000168646
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:65528563-65561647
Strand Reverse strand
Band q24.1
Transcripts
ENST00000307078 ENSP00000302625
ENST00000375702 ENSP00000364854
ENST00000544103 ENSP00000441151
ENST00000585045 ENSP00000463192
ENST00000577278 ENSP00000464264
ENST00000578251
ENST00000580513 ENSP00000463761
ENST00000611991 ENSP00000481191
ENST00000618960 ENSP00000478916
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 21 [view]
Protein-DNA 5 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004871 signal transducer activity
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0031625 ubiquitin protein ligase binding
GO:0070016 armadillo repeat domain binding
GO:0070411 I-SMAD binding
Biological Process
GO:0001756 somitogenesis
GO:0001934 positive regulation of protein phosphorylation
GO:0001957 intramembranous ossification
GO:0003139 secondary heart field specification
GO:0003413 chondrocyte differentiation involved in endochondral bone morphogenesis
GO:0007165 signal transduction
GO:0007275 multicellular organismal development
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway
GO:0008283 cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0009950 dorsal/ventral axis specification
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010942 positive regulation of cell death
GO:0030111 regulation of Wnt signaling pathway
GO:0030282 bone mineralization
GO:0032423 regulation of mismatch repair
GO:0034613 cellular protein localization
GO:0035414 negative regulation of catenin import into nucleus
GO:0038032 termination of G-protein coupled receptor signaling pathway
GO:0042476 odontogenesis
GO:0043547 positive regulation of GTPase activity
GO:0043570 maintenance of DNA repeat elements
GO:0045668 negative regulation of osteoblast differentiation
GO:0048255 mRNA stabilization
GO:0061181 regulation of chondrocyte development
GO:0070602 regulation of centromeric sister chromatid cohesion
GO:0071407 cellular response to organic cyclic compound
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090244 Wnt signaling pathway involved in somitogenesis
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005881 cytoplasmic microtubule
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0014069 postsynaptic density
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0030877 beta-catenin destruction complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
TGF_beta_Receptor pathway
Wnt pathway
REACTOME
binding of TCF/LEF:CTNNB1 to target gene promoters pathway
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
Signaling by WNT in cancer pathway
Signaling by Wnt pathway
Signal Transduction pathway
TCF dependent signaling in response to WNT pathway
degradation of AXIN pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
formation of the beta-catenin:TCF transactivating complex pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
Disease pathway
KEGG
Wnt signaling pathway pathway
Pathways in cancer pathway
Colorectal cancer pathway
Endometrial cancer pathway
Basal cell carcinoma pathway
INOH
Wnt signaling pathway pathway
PID BIOCARTA
PID NCI
Validated nuclear estrogen receptor alpha network
Regulation of nuclear beta catenin signaling and target gene transcription
Degradation of beta catenin
Cross-References
SwissProt
TrEMBL E7ES00 F5GX43 J3QKQ7 J3QQJ3 J3QRK4
UniProt Splice Variant
Entrez Gene 8313
UniGene
RefSeq XM_005257719 NM_004655
HUGO HGNC:904
OMIM 604025
CCDS CCDS11662
HPRD
IMGT
EMBL AC115994
GenPept
RNA Seq Atlas 8313