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FLASH GENE

Symbol

AXIN2

contributors: mct/shn - updated : 13-08-2012

HGNC name	axin 2
HGNC id	904

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	33.06 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	four Runx2 consensus binding sequences (i.e. ACCACA or TGTGGT ) in the AXIN2 promoter

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D17S1825 - D17S1792 - AXIN2 - D17S1882 - D17S1874 - qter

Physical map

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004655 11 - 4241 NP_004646 - 843 - Mai (1999)

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly Homo sapiens   intestine large intestine colon   lowly Homo sapiens Endocrine adrenal gland       moderately   parathyroid       moderately Lymphoid/Immune thymus       highly Homo sapiens Nervous nerve       highly Reproductive female system ovary     highly Homo sapiens   male system testis     highly Homo sapiens   male system prostate     highly Homo sapiens Respiratory lung       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cell lineage	immature oligodendrocyte progenitor cells in white matter lesions of human newborns with neonatal hypoxic-ischemic and gliotic brain damage (
cell lines
fluid/secretion	blood

at STAGE

physiological period

embryo

Text	embryonic tissue

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal regulation of G protein signaling (RGS)
	the GSK and the beta catenin binding domains
	a dishevelled (DSH/DIX) homology domain

conjugated

PhosphoP

mono polymer

homomer , heteromer , oligo

HOMOLOGY

interspecies	ortholog to axin2, Danio rerio
	ortholog to Axin2, Rattus norvegicus
	ortholog to Axin2, Mus musculus

intraspecies

homolog to AXIN1

Homologene

FAMILY

CATEGORY

chaperone/stress , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus
text	located to centrosome by binding to CEP250 (Hadjihannas 2010)

basic FUNCTION	promoting the GSK3B dependent phosphorylation of beta catenin (CTNNB1)
	negatively regulates both expansion of osteoprogenitors and maturation of osteoblasts through its modulation on Wnt/beta-catenin signaling
	promotes centrosome cohesion by phosphorylating CTNNB1 at centrosomes (Hadjihannas 2010)
	negative regulator of beta-catenin, localizes at the centrosomes by binding to the centriole-associated component CEP250
	essential for normal kinetics of remyelination (
	serves as a negative regulator of canonical WNT signaling in normal cells
	tumor suppressor function of AXIN2 in normal cells is most likely coopted by cancer cells to promote, rather than suppress, key aspects of the cancer progression program
	RUNX2 and AXIN2 regulate craniofacial development and skeletal maintenance

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

negative regulator of the signaling Wnt pathway through interaction with GSK3B and beta catenin

a component

complex of APC, beta catenin, GSK3B

INTERACTION

DNA

RNA

small molecule

protein	glycogen synthase kinase 3beta and beta-catenin (
	adenomatous polyposis coli and Smad3 (
	acts as a potent promoter of carcinoma behavior by up-regulating the activity of the transcriptional repressor, SNAI1, inducing a functional epithelial-mesenchymal transition (EMT) program and driving metastatic activity
	FOXM1 directly bound to and increased transcriptional activity of the AXIN2 promoter region
	RUNX2 binds several regions of the AXIN2 promoter and RUNX2-mediated repression of AXIN2 transcription depends on HDAC3

cell & other

REGULATION

repressed by

RUNX2, HDAC3, that repress AXIN2 transcription in osteoblasts

Other

phosphorylated by GSK3B and dephosphorylated by PP2A

ASSOCIATED DISORDERS

corresponding disease(s)

FTACC

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in breast cancer, neuroblastoma and others tumors tumoral   amplification     colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling ( tumoral   LOH     in hepatocellular, colorectal and ovarian carcinoma tumoral somatic mutation       in hepatocellular carcinoma and hepatoblastoma tumoral       loss of function in colon cancer tumoral         frameshift mutations are common in gastric carcinoma with high microsatellite instability (MSI) and may contribute to development of gastric cancers with high MSI by deregulating the Wnt signaling in the affected cancer cells (

Susceptibility

epigenetic silencing of AXIN2 is specifically associated with carcinogenesis in microsatellite instability + colorectal carcinomas (

Variant & Polymorphism SNP	two SNPs might be related to Hirschsprung disease (Zhonghua 2008)

Candidate gene	strong candidate in multiple tumor types
Marker
Therapy target
	System Type Disorder Pubmed neurology     an essential regulator of remyelination and that it might serve as a pharmacological checkpoint in this process

ANIMAL & CELL MODELS

disruption of Axin2 in mice induces skeletal defects, a phenotype resembling craniosynostosis in humans