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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AXIN2 Gene

protein-coding GIFtS: 65
GCID: GC17M063524

axin 2

Explore 38 diseases affiliated with
AXIN2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Axin 2¹ ²		ODCRCS²
Axin-Like Protein² ³		Axin-2¹
Axis Inhibition Protein 2² ³		Conductin³
DKFZp781B0869¹		Axil³
MGC126582¹		Conductin³
AXIL²

External Ids:	HGNC: 904¹	Entrez Gene: 8313²	Ensembl: ENSG00000168646⁷	OMIM: 604025⁵	UniProtKB: Q9Y2T1³

Export aliases for AXIN2 gene to outside databases

Previous GC identifers: GC17P064858 GC17P067924 GC17M063942 GC17M064074 GC17M060956 GC17M058916

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AXIN2:

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)

UniProtKB/Swiss-Prot: 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)

Gene Wiki entry for AXIN2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AXIN2 gene promoter:
PPAR-gamma1 AP-1 ATF-2 HNF-4alpha2 c-Jun PPAR-gamma2 HNF-4alpha1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AXIN2 promoter sequence

Search SABiosciences Chromatin IP Primers for AXIN2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AXIN2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q23-q24 Ensembl cytogenetic band: 17q24.1 HGNC cytogenetic band: 17q23-q24

AXIN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AXIN2 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M063524: view genomic region (about GC identifiers)

Start:	63,524,681 bp from pter	End:	63,557,765 bp from pter
Size:	33,085 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AXIN2_HUMAN, Q9Y2T1 (See protein sequence)

Recommended Name: Axin-2

Size: 843 amino acids; 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

Subcellular location: Cytoplasm

Secondary accessions: Q3MJ88 Q9H3M6 Q9UH84

Explore the universe of human proteins at neXtProt for AXIN2: NX_Q9Y2T1

Post-translational modifications:

Probably phosphorylated by GSK3B and dephosphorylated by PP2A (By similarity)¹

ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by

ubiquitination and subsequent activation of the Wnt signaling pathway¹

Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation and subsequent activation of the Wnt

signaling pathway. Deubiquitinated by USP34, deubiquitinated downstream of beta-catenin stabilization step:

deubiquitination is important Wnt signaling to positively regulate beta-catenin (CTNBB1)-mediated transcription¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y2T1

AXIN2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004646.3

ENSEMBL proteins:

ENSP00000302625 ENSP00000364854 ENSP00000464264 ENSP00000463761 ENSP00000463192

ENSP00000441151

Human Recombinant Protein Products:

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	Novus Biologicals AXIN2 Proteins Novus Biologicals AXIN2 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for AXIN2

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	IDA	12072559
GO:0005737	cytoplasm	IDA	--
GO:0005813	centrosome	IDA	--
GO:0005881	cytoplasmic microtubule	IBA	--

AXIN2 for ontologies About GeneDecksing

AXIN2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of AXIN2
	R&D Systems Antibodies for AXIN2 (Axin-2)
	Cell Signaling Technology (CST) Antibodies for AXIN2 (axin 2)
	OriGene Antibodies: AXIN2 OriGene Custom Antibody Services for AXIN2
	GenScript Custom Superior Antibodies Services for AXIN2
	Novus Biologicals AXIN2 Antibodies
	Abcam antibodies for AXIN2
	Uscn Antibodies for AXIN2
	ThermoFisher Antibody for AXIN2

Assay Products for AXIN2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for AXIN2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for AXIN2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AXIN2 for domains About GeneDecksing

5 InterPro domains/families:

IPR024066 Regulat_G_prot_signal_dom1

IPR014936 Axin_b-cat-bd

IPR000342 Regulat_G_prot_signal

IPR016137 Regulat_G_prot_signal_superfam

IPR001158 DIX

Graphical View of Domain Structure for InterPro Entry Q9Y2T1

ProtoNet protein and cluster: Q9Y2T1

1 Blocks protein family: IPB000342 Regulator of G-protein signalling (RGS) protein signature

UniProtKB/Swiss-Prot: AXIN2_HUMAN, Q9Y2T1

Domain: The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2 (By

similarity)

Similarity: Contains 1 DIX domain

Similarity: Contains 1 RGS domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 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)

Genatlas biochemistry entry for AXIN2:

axin 2,murine conduction homolog,negative regulator of the Wnt signaling pathway,promoting the GSK3B dependent

phosphorylation of beta catenin (CTNNB1) strong candidate in multiple tumor types

miRNA Products:		miRTarBase miRNAs that target AXIN2: hsa-mir-34a (MIRT001232)

		OriGene 3'-UTR Clone: AXIN2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AXIN2
		8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate AXIN2 (see all 49):
		hsa-miR-562 hsa-miR-607 hsa-miR-4307 hsa-miR-3141 hsa-miR-15a hsa-miR-374a hsa-miR-3074-3p hsa-miR-371-5p

		SwitchGear 3'UTR luciferase reporter plasmid: AXIN2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AXIN2 (see all 7) OriGene shRNA RFP: AXIN2 OriGene siRNA: AXIN2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AXIN2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for AXIN2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AXIN2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AXIN2 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: AXIN2 (NM_004655)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AXIN2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AXIN2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for AXIN2
		Search LifeMap BioReagents cell lines for AXIN2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AXIN2

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004871	signal transducer activity	IEA	--
GO:0005096	GTPase activator activity	IBA	--
GO:0005515	protein binding	--	--
GO:0008013	beta-catenin binding	NAS	11017067
GO:0019899	enzyme binding	IPI	19759537

AXIN2 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for AXIN2:

Upregulation of Wnt/beta-caten

Wnt reporter downregulated

Animal Models:
11 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Axin2):

cardiovascular system	craniofacial	embryogenesis	endocrine/exocrine gland	limbs/digits/tail
mortality/aging	nervous system	normal	reproductive system	skeleton
vision/eye

AXIN2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Wnt Signaling Pathway

	Wnt Signaling Pathway and Pluripotency	0.55			Wnt signaling pathway	0.30
	Wnt Signaling Pathway	0.33			Wnt Signaling Pathway NetPath	0.22

Cytoskeleton remodeling_Reverse signaling by ephrin B

Cytoskeleton remodeling_Reverse signaling by ephrin B

1.00

Cytoskeleton remodeling Reverse signaling by ephrin B

0.94

Endometrial cancer

Endometrial cancer

1.00

Colorectal cancer

0.42

Wnt / Hedgehog / Notch

Wnt / Hedgehog / Notch

1.00

Neural Crest Differentiation

Neural Crest Differentiation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for AXIN2

Cytoskeleton remodeling Reverse signaling by ephrin B

2 R&D Systems Pathways for AXIN2

	Wnt Signaling Pathway
	Apoptosis Signaling Pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AXIN2

Colorectal Cancer Metastasis

1 Cell Signaling Technology (CST) Pathway for AXIN2

Wnt / Hedgehog / Notch

1 GeneGo (Thomson Reuters) Pathway for AXIN2

Cytoskeleton remodeling Reverse signaling by ephrin B

5/6 BioSystems Pathways for AXIN2 (see all 6)

	Wnt Signaling Pathway and Pluripotency
	Neural Crest Differentiation
	Wnt Signaling Pathway NetPath
	TGF-beta Receptor Signaling Pathway
	Canonical Wnt signaling pathway

5 Kegg Pathways (Kegg details for AXIN2):

	Wnt signaling pathway
	Pathways in cancer
	Colorectal cancer
	Endometrial cancer
	Basal cell carcinoma

AXIN2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AXIN2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/187 Interacting proteins for AXIN2 (Q9Y2T1^{2, 3} ENSP00000302625⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 187)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPP2CB	P62714²^,³, ENSP00000221138⁴	MINT-8285087 MINT-8285094 MINT-8285108 MINT-8285117 I2D: score=2 STRING: ENSP00000221138
GSK3B	P49841³, ENSP00000324806⁴	I2D: score=7 STRING: ENSP00000324806
APC	P25054³, ENSP00000257430⁴	I2D: score=4 STRING: ENSP00000257430
CSNK1E	P49674³, ENSP00000352929⁴	I2D: score=1 STRING: ENSP00000352929
GSK3A	P49840³, ENSP00000222330⁴	I2D: score=1 STRING: ENSP00000222330

About this table

Gene Ontology (GO): 5/29 biological process terms (GO ID links to tree view) (see all 29): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001756	somitogenesis	--	--
GO:0001934	positive regulation of protein phosphorylation	IMP	--
GO:0001957	intramembranous ossification	IBA	--
GO:0003413	chondrocyte differentiation involved in endochondral bone morphogenesis	IEA	--
GO:0007275	multicellular organismal development	--	--

AXIN2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AXIN2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AXIN2
5 Novoseek chemical compound relationships for AXIN2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pidotimod	85.2	9	10647780 (4), 11809809 (1), 10049590 (1), 11438668 (1)
samp	82.3	2	10021369 (1), 10966653 (1)
glycogen	50.4	4	16426922 (1), 11212302 (1), 10526234 (1), 10021369 (1)
threonine	22.7	3	11809809 (1), 10911903 (1), 20300119 (1)
serine	6.95	3	11809809 (1), 10911903 (1), 20300119 (1)

Search CenterWatch for drugs/clinical trials and news about AXIN2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AXIN2 gene:

NM_004655.3

Unigene Cluster for AXIN2:

Axin 2

Hs.156527 [show with all ESTs]

Unigene Representative Sequence: CR933657

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000307078(uc002jfh.3 uc002jfi.3) ENST00000375702 ENST00000578251

ENST00000577278 ENST00000580513 ENST00000585045(uc002jfj.1) ENST00000544103

miRNA Products:		OriGene 3'-UTR Clone: AXIN2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AXIN2
		8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate AXIN2 (see all 49):
		hsa-miR-562 hsa-miR-607 hsa-miR-4307 hsa-miR-3141 hsa-miR-15a hsa-miR-374a hsa-miR-3074-3p hsa-miR-371-5p

		SwitchGear 3'UTR luciferase reporter plasmid: AXIN2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AXIN2 (see all 7) OriGene shRNA RFP: AXIN2 OriGene siRNA: AXIN2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AXIN2

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat AXIN2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AXIN2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AXIN2

Additional cDNA sequence:

AB052751.1 AF078165.1 AF205888.1 AK025718.1 AK315303.1 BC101533.1 BC143244.1 CR933657.1

6 DOTS entries:

DT.312900 DT.100773386 DT.95160596 DT.97809731 DT.100727598 DT.95197789

24/147 AceView cDNA sequences (see all 147):

AI024641 BM745159 CB306601 BE670767 BX956772 AA932035 AI912345 AA897688

AI263962 BU156663 CK300336 AW104413 AA972819 AW779070 BM468571 AI824380

AW009558 BQ064642 AA918343 AA604626 BM771508 BQ438096 BM974846 AI630818

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for AXIN2 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12
SP1:
SP2:
SP3:
SP4:															-

ECgene alternative splicing isoforms for AXIN2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AXIN2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACATTTTGTT

About this image

AXIN2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Paraxial Mesoderm

Paraxial Mesoderm Cells

Selective marker (cell-identifying gene)

Mesoderm

Brain

Brain

Brain

Neural Tube

Neural Tube

Umbilical Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)

Definitive endoderm-like cells (A scalable, suspensi...)

See AXIN2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AXIN2

SOURCE GeneReport for Unigene cluster: Hs.156527

UniProtKB/Swiss-Prot: AXIN2_HUMAN, Q9Y2T1

Tissue specificity: Expressed in brain and lymphoblast

SABiosciences Expression via Pathway-Focused 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 PathwayFinder in human mouse rat

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat AXIN2
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AXIN2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AXIN2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for AXIN2 gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	AXIN2¹	axin 2	77.54(n) 81.82(a)		395152 NM_204491.1 NP_989822.1
lizard (Anolis carolinensis)	Reptilia	AXIN2⁶	--	79(a)	1 ↔ 1	GL343260.1(882505-926506)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.5833²	Transcribed sequence with weak similarity to protein more	77.39(n)		BX739698.1
zebrafish (Danio rerio)	Actinopterygii	AB032263.1²	--	76.63(n)		58080 AB032263.1
fruit fly (Drosophila melanogaster)	Insecta	Axn⁶	Axin	20(a)	1 → many	3R(25848566-25861033)

ENSEMBL Gene Tree for AXIN2 (if available)
TreeFam Gene Tree for AXIN2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for AXIN2 gene

AXIN1²

6 SIMAP similar genes for AXIN2 using alignment to 7 protein entries: AXIN2_HUMAN (see all proteins):

DKFZp781B0869 AXIN1 RGS10 RGS20 RGS3 RGS21

AXIN2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for AXIN2
PGOHUM00000259798

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs76266116^1,2	C,F,	--	58916274(+)	`GCCTTG/ATTGAT`	1	--	ds500¹		1	EA	120
rs62063438^1,2		--	58916621(+)	`GTCCAG/CATCAG`	1	--	ds500¹		1	NA	2
rs73346276^1,2	C,	--	58916648(+)	`AGAGAC/GGGGCT`	1	--	ds500¹		2	WA	120
rs112415132^1,2	C,	--	58917202(+)	`TGTTCA/CTTTCT`	1	--	ut3¹		2	CSA WA	120
rs75257056^1,2	C,F,	--	58917313(+)	`CACAGC/TGGCAG`	1	--	ut3¹		1	WA	118
rs8070717^1,2	C,	--	58918004(+)	`CCCCCG/ACCCTC`	1	--	ut3¹ ese³		1	WA	2
rs4074948^1,2	C,F,A,	--	58918569(+)	`GACACG/ATATAC`	1	--	int¹		6	NA	266
rs9900785^1,2	C,F,H,	--	58918871(+)	`CAGCCA/GCACAG`	1	--	int¹		6	NS EA WA	532
rs78226347^1,2		--	58919132(+)	`CAACTG/CCTGTC`	1	--	int¹		2	CSA WA	120
rs79411572^1,2	F,	--	58919455(+)	`ACTTTC/AGTAGG`	1	--	int¹		1	WA	118

HapMap Linkage Disequilibrium report for AXIN2 (63524681 - 63557765 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AXIN2: --
Human Gene Mutation Database (HGMD): AXIN2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AXIN2 for disorders           About GeneDecksing

OMIM gene information: 604025
OMIM disorders: 114500  608615
UniProtKB/Swiss-Prot: AXIN2_HUMAN, Q9Y2T1

Defects in AXIN2 are involved in colorectal cancer (CRC) [MIM:114500]. They appear to be specifically

associated with defective mismatch repair

Defects in AXIN2 are the cause of oligodontia-colorectal cancer syndrome (ODCRCS) [MIM:608615]. Affected

individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types

20/38 diseases for AXIN2 (see all 38): About MalaCards

polyposis colorectal cancer breast cancer familial adenomatous polyposis

oligodontia-colorectal cancer syndrome adenomatous polyposis coli oligodontia tooth agenesis

orofacial cleft anodontia merkel cell carcinoma neuroblastoma

brain injury basal cell carcinoma epithelial ovarian cancer hirschsprung's disease

hepatoblastoma adrenocortical tumor medulloblastoma colon cancer

3 diseases from the University of Copenhagen DISEASES database for AXIN2:

Tooth agenesis Familial adenomatous polyposis Colorectal cancer

10/14 Novoseek disease relationships for AXIN2 gene (see all 14) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
familial adenomatous polyposis	86	5	16426922 (1), 11212302 (1), 11752446 (1), 14970870 (1) (see all 5)
polyposis	57.5	1	16941501 (1)
colorectal cancer	56.5	7	17927870 (2), 16941501 (2), 19454286 (1), 18843029 (1) (see all 5)
colon cancer	53.7	4	16815967 (2), 11752446 (1), 17143297 (1)
hepatoblastoma	44	4	15538750 (1), 15958610 (1)
colon tumor	36.5	3	11752446 (2), 16815967 (1)
colon carcinoma	36.4	3	16815967 (1), 10911903 (1)
adenoma	35.2	4	16941501 (3), 18843029 (1)
medulloblastoma	34.4	2	17373666 (1)
somatic mutations	27.9	1	17258725 (1)

Human Genome Epidemiology (HuGE) Navigator: AXIN2 (21 documents)

Export disorders for AXIN2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for AXIN2 gene, integrated from 9 sources (see all 108):
(articles sorted by number of sources associating them with AXIN2)

Utopia: connect your pdf to the dynamic
world of online information

Cloning of the human homolog of conductin (AXIN2), a gene mapping to chromosome 17q23-q24. (PubMed id 10049590)^{1, 2, 3, 9} Mai M.... Liu W. (1999)
The Ubiquitin specific protease USP34 regulates Axin stability and Wnt/beta-catenin signaling. (PubMed id 21383061)^{1, 2} Lui T.T.... Angers S. (2011)
Tankyrase inhibition stabilizes axin and antagonizes Wnt signalling. (PubMed id 19759537)^{1, 2} Huang S.M....Cong F. (2009)
Axin is a scaffold protein in TGF-beta signaling that promotes degradation of Smad7 by Arkadia. (PubMed id 16601693)^{1, 2} Liu W.... Lin S.-C. (2006)
Single nucleotide polymorphism of the AXIN2 gene is preferentially associated with human lung cancer risk in a Japanese population. (PubMed id 16820935)^{1, 2} Kanzaki H....Shimizu K. (2006)
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. (PubMed id 15042511)^{1, 2} Lammi L.... Nieminen P. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. (PubMed id 11017067)^{1, 2} Liu W.... Thibodeau S.N. (2000)
Mutations of the Wnt antagonist AXIN2 (Conductin) result in TCF-dependent transcription in medulloblastomas. (PubMed id 17373666)^{1, 9} Koch A....Pietsch T. (2007)
Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. (PubMed id 16941501)^{1, 9} Lejeune S....Buisine M.P. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 8313	HGNC: 904	AceView: AXIN2	Ensembl:ENSG00000168646	euGenes: HUgn8313
ECgene: AXIN2	Kegg: 8313	H-InvDB: AXIN2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AXIN2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for AXIN2	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for AXIN2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AXIN2 gene:
Search GeneIP for patents involving AXIN2

GeneCards and IP:
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