AXIN2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
AXIN2
Official Name
axin 2 [Source:HGNC Symbol;Acc:HGNC:904]
Ensembl ID
ENSG00000168646
Bio databases IDs NCBI: 8313 Ensembl: ENSG00000168646
Aliases axin 2, conductin, axil
Synonyms Axi1, AXIL, Conductin, LOC102724272, ODCRCS
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AXIN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Regulator of G protein signaling domain
  • SMAD binding
  • ubiquitin protein ligase binding
  • DIX domain
  • protein kinase binding
  • beta-catenin binding
  • Axin beta-catenin binding motif
  • enzyme binding
  • Regulator of G protein signaling (RGS) domain superfamily
  • Tankyrase binding N-terminal segment of axin
  • protein binding

Pathways

Biological processes and signaling networks where the AXIN2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • liver cancer
  • digestive system cancer
  • abdominal cancer
  • cancer
  • epithelial cancer
  • epithelial neoplasia
  • gastrointestinal tract cancer
  • chronic obstructive pulmonary disease
  • hereditary cancer-predisposing syndrome
  • preeclampsia
regulated by
regulates
role in cell
  • phosphorylation in
  • expression in
  • growth
  • apoptosis
  • migration
  • activation in
  • proliferation
  • signaling in
  • differentiation
  • development

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Nucleus
  • centrosome
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human AXIN2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein localization
  • positive regulation of fat cell differentiation
  • dorsal/ventral axis specification
  • odontogenesis
  • negative regulation of osteoblast differentiation
  • positive regulation of epithelial to mesenchymal transition
  • maintenance of DNA repeat elements
  • stem cell proliferation
  • osteoblast differentiation
  • canonical Wnt receptor signaling pathway
  • regulation of chondrocyte development
  • regulation of mismatch repair
  • regulation of centromeric sister chromatid cohesion
  • bone mineralization
  • aortic valve morphogenesis
  • mitral valve morphogenesis
  • cell development
  • negative regulation of canonical Wnt receptor signaling pathway
  • chondrocyte differentiation involved in endochondral bone morphogenesis
  • proteasomal ubiquitin-dependent protein catabolic process
  • secondary heart field specification
  • positive regulation of protein kinase activity
  • somitogenesis
  • positive regulation of protein phosphorylation
  • mRNA stabilization
  • intramembranous ossification
  • osteoblast proliferation
  • cellular response to dexamethasone stimulus
  • positive regulation of proteasomal ubiquitin-dependent protein catabolic process
  • negative regulation of osteoblast proliferation

Cellular Component

Where in the cell the gene product is active
  • beta-catenin destruction complex
  • nucleus
  • centrosome
  • cytoplasm
  • cytosol
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein kinase binding
  • ubiquitin protein ligase binding
  • protein binding
  • beta-catenin binding
  • I-SMAD binding
  • binding, bridging
  • enzyme binding

Gene-Specific Assays for Results You Can Trust

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