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Aliases for AXIN2 Gene

Aliases for AXIN2 Gene

  • Axin 2 2 3 5
  • Conductin 2 3 4
  • Axil 2 3 4
  • Axis Inhibition Protein 2 3 4
  • Axin-Like Protein 3 4
  • ODCRCS 3
  • Axin-2 3

External Ids for AXIN2 Gene

Previous GeneCards Identifiers for AXIN2 Gene

  • GC17P064858
  • GC17P067924
  • GC17M063942
  • GC17M064074
  • GC17M060956
  • GC17M063524
  • GC17M058916

Summaries for AXIN2 Gene

Entrez Gene Summary for AXIN2 Gene

  • 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]

GeneCards Summary for AXIN2 Gene

AXIN2 (Axin 2) is a Protein Coding gene. Diseases associated with AXIN2 include Oligodontia-Colorectal Cancer Syndrome and Axin2-Related Attenuated Familial Adenomatous Polyposis. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Mesodermal Commitment Pathway. GO annotations related to this gene include protein kinase binding and GTPase activator activity. An important paralog of this gene is AXIN1.

UniProtKB/Swiss-Prot for AXIN2 Gene

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AXIN2 Gene

Genomics for AXIN2 Gene

Regulatory Elements for AXIN2 Gene

Enhancers for AXIN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G066451 1.5 Ensembl ENCODE dbSUPER 18.9 -890.5 -890468 1.2 FOXA2 MLX ZNF493 ARID4B SIN3A DMAP1 ZNF48 ZNF121 SLC30A9 ZNF143 HELZ AXIN2 PRKCA-AS1 GC17M066521
GH17G065563 1.4 Ensembl ENCODE dbSUPER 17.4 -2.9 -2931 2.4 ELF3 NFIB ZSCAN4 ARID4B ZBTB40 ZBTB7B ZNF121 SCRT2 FOS IKZF2 AXIN2 PIR59324
GH17G065553 1.7 Ensembl ENCODE dbSUPER 14.3 +3.6 3568 10.1 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 AXIN2 SLC16A6P1 CRAT40
GH17G065587 1.5 Ensembl ENCODE dbSUPER 12.2 -26.6 -26603 2.2 PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF143 SP5 MIER2 PPARG GLIS1 AXIN2 PIR59324
GH17G064607 0.9 dbSUPER 18.9 +953.1 953137 1.5 ZFP64 ZNF121 ZNF138 ZNF366 ZNF354C ZNF207 RCOR1 FOS ZNF202 ZNF654 CEP95 DDX42 SLC16A6P1 ENSG00000265912 ENSG00000265218 DDX5 AMZ2P1 POLG2 AXIN2 PLEKHM1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AXIN2 on UCSC Golden Path with GeneCards custom track

Promoters for AXIN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000097153 1147 3401 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 ZBTB7B ZNF143 SP3 SP5

Genomic Location for AXIN2 Gene

Chromosome:
17
Start:
65,528,563 bp from pter
End:
65,561,647 bp from pter
Size:
33,085 bases
Orientation:
Minus strand

Genomic View for AXIN2 Gene

Genes around AXIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AXIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AXIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AXIN2 Gene

Proteins for AXIN2 Gene

  • Protein details for AXIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2T1-AXIN2_HUMAN
    Recommended name:
    Axin-2
    Protein Accession:
    Q9Y2T1
    Secondary Accessions:
    • Q3MJ88
    • Q9H3M6
    • Q9UH84

    Protein attributes for AXIN2 Gene

    Size:
    843 amino acids
    Molecular mass:
    93558 Da
    Quaternary structure:
    • 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.

neXtProt entry for AXIN2 Gene

Post-translational modifications for AXIN2 Gene

  • 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.
  • Probably phosphorylated by GSK3B and dephosphorylated by PP2A.
  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AXIN2 (axin 2)

No data available for DME Specific Peptides for AXIN2 Gene

Domains & Families for AXIN2 Gene

Suggested Antigen Peptide Sequences for AXIN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2T1

UniProtKB/Swiss-Prot:

AXIN2_HUMAN :
  • The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2.
Domain:
  • The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2.
genes like me logo Genes that share domains with AXIN2: view

No data available for Gene Families for AXIN2 Gene

Function for AXIN2 Gene

Molecular function for AXIN2 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for AXIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0005515 protein binding IPI 10698523
GO:0008013 beta-catenin binding NAS 11017067
GO:0019899 enzyme binding IPI 19759537
GO:0031625 ubiquitin protein ligase binding IPI 21478859
genes like me logo Genes that share ontologies with AXIN2: view
genes like me logo Genes that share phenotypes with AXIN2: view

Human Phenotype Ontology for AXIN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AXIN2 Gene

MGI Knock Outs for AXIN2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AXIN2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AXIN2 Gene

Localization for AXIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AXIN2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AXIN2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
extracellular 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for AXIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12072559
GO:0005737 cytoplasm IEA,IDA 21383061
GO:0005813 centrosome IDA 20300119
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA --
genes like me logo Genes that share ontologies with AXIN2: view

Pathways & Interactions for AXIN2 Gene

genes like me logo Genes that share pathways with AXIN2: view

SIGNOR curated interactions for AXIN2 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for AXIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001756 somitogenesis IEA --
GO:0001934 positive regulation of protein phosphorylation IMP 20300119
GO:0001957 intramembranous ossification IEA,IBA --
GO:0003139 secondary heart field specification IEA --
GO:0003413 chondrocyte differentiation involved in endochondral bone morphogenesis IEA --
genes like me logo Genes that share ontologies with AXIN2: view

Drugs & Compounds for AXIN2 Gene

(4) Drugs for AXIN2 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Platinum compounds Pharma 0

(2) Additional Compounds for AXIN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AXIN2: view

Transcripts for AXIN2 Gene

Unigene Clusters for AXIN2 Gene

Axin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AXIN2

Alternative Splicing Database (ASD) splice patterns (SP) for AXIN2 Gene

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

Relevant External Links for AXIN2 Gene

GeneLoc Exon Structure for
AXIN2
ECgene alternative splicing isoforms for
AXIN2

Expression for AXIN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AXIN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AXIN2 Gene

This gene is overexpressed in Pancreatic juice (64.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AXIN2 Gene



Protein tissue co-expression partners for AXIN2 Gene

NURSA nuclear receptor signaling pathways regulating expression of AXIN2 Gene:

AXIN2

SOURCE GeneReport for Unigene cluster for AXIN2 Gene:

Hs.156527

mRNA Expression by UniProt/SwissProt for AXIN2 Gene:

Q9Y2T1-AXIN2_HUMAN
Tissue specificity: Expressed in brain and lymphoblast.

Evidence on tissue expression from TISSUES for AXIN2 Gene

  • Nervous system(4.5)
  • Blood(4.2)
  • Intestine(3.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AXIN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • reproductive
  • skeleton
  • urinary
Organs:
Head and neck:
  • chin
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with AXIN2: view

Primer Products

No data available for mRNA differential expression in normal tissues for AXIN2 Gene

Orthologs for AXIN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for AXIN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AXIN2 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia AXIN2 34 35
  • 90.75 (n)
rat
(Rattus norvegicus)
Mammalia Axin2 34
  • 86.28 (n)
mouse
(Mus musculus)
Mammalia Axin2 34 16 35
  • 86.2 (n)
cow
(Bos Taurus)
Mammalia AXIN2 34 35
  • 80.55 (n)
oppossum
(Monodelphis domestica)
Mammalia AXIN2 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AXIN2 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves AXIN2 34 35
  • 77.01 (n)
lizard
(Anolis carolinensis)
Reptilia AXIN2 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5833 34
zebrafish
(Danio rerio)
Actinopterygii axin2 34 35
  • 65.87 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Axn 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 21 (a)
OneToMany
Species where no ortholog for AXIN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AXIN2 Gene

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

Paralogs for AXIN2 Gene

Paralogs for AXIN2 Gene

(5) SIMAP similar genes for AXIN2 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for AXIN2 Gene

genes like me logo Genes that share paralogs with AXIN2: view

Variants for AXIN2 Gene

Sequence variations from dbSNP and Humsavar for AXIN2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs2240308 Benign, Polymorphism associated with increased risk of lung cancer 65,558,473(+) GACAG(A/G)CATGG reference, missense
rs121908567 Pathogenic 65,536,345(-) TAGCT(G/T)AGGTG reference, stop-gained
rs121908568 Pathogenic 65,536,495(-) GCGAA(C/T)GAGCC reference, stop-gained
rs267606674 Pathogenic 65,536,467(-) GGGGG(-/G)CAACA reference, frameshift-variant
rs730882193 Pathogenic 65,536,472(-) CTGTG(A/G)GGGGG reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for AXIN2 Gene

Variant ID Type Subtype PubMed ID
nsv1058285 CNV gain 25217958
nsv1070414 CNV deletion 25765185
nsv1120054 OTHER inversion 24896259

Variation tolerance for AXIN2 Gene

Residual Variation Intolerance Score: 59.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.00; 84.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AXIN2 Gene

Human Gene Mutation Database (HGMD)
AXIN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AXIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AXIN2 Gene

Disorders for AXIN2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for AXIN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
oligodontia-colorectal cancer syndrome
  • tooth agenesis-colorectal cancer syndrome
axin2-related attenuated familial adenomatous polyposis
  • axin2-related afap
colorectal cancer
  • colorectal cancer, somatic
tooth agenesis
  • familial tooth agenesis
familial adenomatous polyposis
  • adenomatous polyposis of the colon
- elite association - COSMIC cancer census association via MalaCards
Search AXIN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AXIN2_HUMAN
  • 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. {ECO:0000269 PubMed:11017067}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Oligodontia-colorectal cancer syndrome (ODCRCS) [MIM:608615]: Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types. {ECO:0000269 PubMed:15042511}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AXIN2

Genetic Association Database (GAD)
AXIN2
Human Genome Epidemiology (HuGE) Navigator
AXIN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AXIN2
genes like me logo Genes that share disorders with AXIN2: view

No data available for Genatlas for AXIN2 Gene

Publications for AXIN2 Gene

  1. Cloning of the human homolog of conductin (AXIN2), a gene mapping to chromosome 17q23-q24. (PMID: 10049590) Mai M. … Liu W. (Genomics 1999) 2 3 4 22 64
  2. Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer. (PMID: 18708403) Wang X. … Couch F.J. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 22 46 64
  3. Single nucleotide polymorphism of the AXIN2 gene is preferentially associated with human lung cancer risk in a Japanese population. (PMID: 16820935) Kanzaki H. … Shimizu K. (Int. J. Mol. Med. 2006) 3 4 46 64
  4. Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis. (PMID: 16432638) Mostowska A. … Jagodzinski P.P. (J. Hum. Genet. 2006) 3 22 46 64
  5. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson J.E. … Couch F.J. (Breast Cancer Res. Treat. 2011) 3 46 64

Products for AXIN2 Gene

  • Addgene plasmids for AXIN2

Sources for AXIN2 Gene

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