Human Gene AXIN2 (ENST00000307078.10_11) from GENCODE V47lift37
  Description: axin 2, transcript variant 1 (from RefSeq NM_004655.4)
Gencode Transcript: ENST00000307078.10_11
Gencode Gene: ENSG00000168646.14_13
Transcript (Including UTRs)
   Position: hg19 chr17:63,524,681-63,557,766 Size: 33,086 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr17:63,526,094-63,554,738 Size: 28,645 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:63,524,681-63,557,766)mRNA (may differ from genome)Protein (843 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AXIN2_HUMAN
DESCRIPTION: RecName: Full=Axin-2; AltName: Full=Axin-like protein; Short=Axil; AltName: Full=Axis inhibition protein 2; AltName: Full=Conductin;
FUNCTION: Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta- catenin and APC by GSK3B (By similarity).
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.
TISSUE SPECIFICITY: Expressed in brain and lymphoblast.
DOMAIN: The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2 (By similarity).
PTM: Probably phosphorylated by GSK3B and dephosphorylated by PP2A (By similarity).
PTM: 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 pathway.
PTM: 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 transcription.
DISEASE: Defects in AXIN2 are involved in colorectal cancer (CRC) [MIM:114500]. They appear to be specifically associated with defective mismatch repair.
DISEASE: 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.
SIMILARITY: Contains 1 DIX domain.
SIMILARITY: Contains 1 RGS domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AXIN2ID456ch17q24.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AXIN2
Diseases sorted by gene-association score: oligodontia-colorectal cancer syndrome* (1369), axin2-related attenuated familial adenomatous polyposis* (350), colorectal cancer* (312), tooth agenesis* (158), colonic benign neoplasm* (89), adenoma (9), anodontia (7), adenomatous polyposis coli (6), esophageal basaloid squamous cell carcinoma (4), familial adenomatous polyposis (3), breast cancer (3), neuroblastoma (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.30 RPKM in Fallopian Tube
Total median expression: 293.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -124.20315-0.394 Picture PostScript Text
3' UTR -390.201413-0.276 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR014936 - Axin_b-cat-bd
IPR001158 - DIX
IPR000342 - Regulat_G_prot_signal
IPR024066 - Regulat_G_prot_signal_dom1
IPR016137 - Regulat_G_prot_signal_superfam

Pfam Domains:
PF00615 - Regulator of G protein signaling domain
PF00778 - DIX domain
PF08833 - Axin beta-catenin binding motif
PF16646 - Axin-1 tankyrase binding domain

SCOP Domains:
48097 - Regulator of G-protein signaling, RGS
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on Q9Y2T1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0019899 enzyme binding
GO:0031625 ubiquitin protein ligase binding
GO:0070411 I-SMAD binding

Biological Process:
GO:0001756 somitogenesis
GO:0001934 positive regulation of protein phosphorylation
GO:0001957 intramembranous ossification
GO:0003139 secondary heart field specification
GO:0003413 chondrocyte differentiation involved in endochondral bone morphogenesis
GO:0007275 multicellular organism development
GO:0008283 cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010942 positive regulation of cell death
GO:0016055 Wnt signaling pathway
GO:0030111 regulation of Wnt signaling pathway
GO:0030282 bone mineralization
GO:0032423 regulation of mismatch repair
GO:0034613 cellular protein localization
GO:0042476 odontogenesis
GO:0043547 positive regulation of GTPase activity
GO:0043570 maintenance of DNA repeat elements
GO:0045668 negative regulation of osteoblast differentiation
GO:0048255 mRNA stabilization
GO:0061181 regulation of chondrocyte development
GO:0070602 regulation of centromeric sister chromatid cohesion
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1904837 beta-catenin-TCF complex assembly

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0030877 beta-catenin destruction complex


-  Descriptions from all associated GenBank mRNAs
  AK308888 - Homo sapiens cDNA, FLJ98929.
AB052751 - Homo sapiens Axin2 mRNA for conductin, partial cds and 3'UTR.
BC006295 - Homo sapiens axin 2, mRNA (cDNA clone IMAGE:4053244), complete cds.
CR933657 - Homo sapiens mRNA; cDNA DKFZp781B0869 (from clone DKFZp781B0869).
KJ901871 - Synthetic construct Homo sapiens clone ccsbBroadEn_11265 AXIN2 gene, encodes complete protein.
AF078165 - Homo sapiens conductin mRNA, complete cds.
AK025718 - Homo sapiens cDNA: FLJ22065 fis, clone HEP10566, highly similar to AF078165 Homo sapiens conductin mRNA.
JD088262 - Sequence 69286 from Patent EP1572962.
JD172559 - Sequence 153583 from Patent EP1572962.
JD053741 - Sequence 34765 from Patent EP1572962.
AF205888 - Homo sapiens AXIN2 (AXIN2) mRNA, complete cds.
BC143244 - Homo sapiens axin 2, mRNA (cDNA clone MGC:176762 IMAGE:9051745), complete cds.
BC101533 - Homo sapiens axin 2, mRNA (cDNA clone MGC:126582 IMAGE:8069039), complete cds.
AK315303 - Homo sapiens cDNA, FLJ96328.
KJ897823 - Synthetic construct Homo sapiens clone ccsbBroadEn_07217 AXIN2 gene, encodes complete protein.
KR712155 - Synthetic construct Homo sapiens clone CCSBHm_00036288 AXIN2 (AXIN2) mRNA, encodes complete protein.
JD073637 - Sequence 54661 from Patent EP1572962.
JD103701 - Sequence 84725 from Patent EP1572962.
JD439043 - Sequence 420067 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y2T1 (Reactome details) participates in the following event(s):

R-HSA-3640862 Tankyrase binds AXIN
R-HSA-4641134 SMURF2 binds AXIN
R-HSA-3640858 Tankyrase ADP-ribosylates AXIN
R-HSA-4641129 AXIN is ubiquitinated by SMURF2
R-HSA-3640844 RNF146 binds RibC-AXIN:TNKS complex
R-HSA-3640872 USP34 deubiquitinates AXIN1,AXIN2
R-HSA-3640861 RNF146 ubiquitinates ADP-ribosylated AXIN
R-HSA-4411364 Binding of TCF/LEF:CTNNB1 to target gene promoters
R-HSA-4641257 Degradation of AXIN
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-5689880 Ub-specific processing proteases
R-HSA-195721 Signaling by WNT
R-HSA-5688426 Deubiquitination
R-HSA-162582 Signal Transduction
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: AXIN2_HUMAN, ENST00000307078.1, ENST00000307078.2, ENST00000307078.3, ENST00000307078.4, ENST00000307078.5, ENST00000307078.6, ENST00000307078.7, ENST00000307078.8, ENST00000307078.9, NM_004655, Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1, uc317nzf.1, uc317nzf.2
UCSC ID: ENST00000307078.10_11
RefSeq Accession: NM_004655.4
Protein: Q9Y2T1 (aka AXIN2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.