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axin-2; axis inhibition protein 2; conductin; axin-like protein; Axil (AXIN2)
Function:
- inhibitor of the Wnt signaling pathway
- down-regulates beta-catenin
- probably facilitates phosphorylation of beta-catenin & APC by GSK3B
- probably phosphorylated by GSK3B & dephosphorylated by PP2A
- interacts with glycogen synthase kinase-3 beta (GSK3B) & beta-catenin
- interaction between axin & beta-catenin occurs via the armadillo repeats contained in beta-catenin
- interacts with SMAD7 & RNF111
- interacts with ANKRD6
Structure:
- contains 1 DIX domain
- contains 1 RGS domain
Compartment:
- cytoplasm
Expression:
- expressed in brain & lymphoblast
Pathology:
- defects in AXIN2 are involved in colorectal cancer via defective mismatch repair
- defects in AXIN2 are the cause of oligodontia-colorectal cancer syndrome
Laboratory:
- AXIN2 gene mutation
General
axin
RGS protein
Properties
SIZE: entity length = 843 aa
MW = 94 kD
COMPARTMENT: cytoplasm
MOTIF: RGS {81-200}
GSK3B interaction {327-413}
beta-catenin interaction {413-476}
MOTIF: Tyr phosphorylation site {Y460}
Ser phosphorylation site {S464}
histidine-rich region {469-474}
MOTIF: histidine residue (SEVERAL)
Ser phosphorylation site {S630}
Ser phosphorylation site {S639}
Thr phosphorylation site {T640}
DIX {761-843}
Database Correlations
OMIM correlations
MORBIDMAP 604025
UniProt Q9Y2T1
PFAM correlations
Entrez Gene 8313
Kegg hsa:8313
References
- UniProt :accession Q9Y2T1
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/AXIN2ID456ch17q24.html