TAG for AXIN2

Gene content

Symbol

AXIN2 ( by HUGO)

Name

Axin

Category

Tumor suppressor gene

Alias

Axin 2
conductin
Axin-Like Protein
Axis Inhibition Protein 2
ODCRCS
axil
AXIL
axin-2
Axil
Conductin

Cytogenetic band

NCBI: 17q23-q24 Ensembl: 17q24.1

Protein information

AXIN2_HUMAN

Size: 843 amino acids

Mass: 93558 Da

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

Tissue specificity: Expressed in brain and lymphoblast [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including AXIN2: WNT Signaling Targets in human mouse rat Primary Cilia in human mouse rat WNT Signaling Pathway in human mouse rat Signal Transduction PathwayFin

Function:

UniProtKB/Swiss-Prot Summary: AXIN2_HUMAN, Q9Y2T1 Function: Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B (By similarity)

Similarity:

Contains 1 DIX domain

Contains 1 RGS domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR000342	RGS_dom	Regulator of G protein signalling	Domain
InterPro	IPR001158	DIX	DIX	Domain
Blocks	IPB000342	Regulator of G-protein signalling (RGS) protein signature	Regulator of G-protein signalling (RGS) protein signature

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	cellular protein localization	IDA	GOA	17072303
	maintenance of DNA repeat elements	IMP	GOA	18755497
	mRNA stabilization	IMP	GOA	17072303
	negative regulation of canonical Wnt signaling pathway	IDA	GOA	11940574
	negative regulation of canonical Wnt signaling pathway	IMP	GOA	11017067
	negative regulation of catenin import into nucleus	IMP	GOA	11017067
	negative regulation of cell proliferation	IMP	GOA	16247484
	odontogenesis	IMP	GOA	15042511
	positive regulation of cell death	IMP	GOA	16247484
	positive regulation of epithelial to mesenchymal transition	IMP	GOA	17072303
	regulation of mismatch repair	IMP	GOA	11017067
Cellular Component	beta-catenin destruction complex	NAS	GOA	11017067
Cellular Component	nucleus	IDA	GOA	12072559
Molecular Function	beta-catenin binding	NAS	GOA	11017067
	enzyme binding	IPI	GOA	19759537
	protein binding	IPI	GOA	10698523

Disorder & Mutation
Source	Disease
SWISS-PROT	Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry is involved in disease pathogenesis
SWISS-PROT	Oligodontia-colorectal cancer syndrome (ODCRCS) [MIM:608615]: Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types. Note=The disease is caused by mutations affecting the gene represented in this entry

AXIN2 cross reference