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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 Colorectal Cancer. Among its related pathways are Endometrial cancer and Mesodermal Commitment Pathway. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for AXIN2 Gene

Promoters and enhancers for AXIN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I065553 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 564.4 +3.6 3567 10.1 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B AXIN2 ENSG00000266076 LINC02563
GH17I066451 Enhancer 1.3 Ensembl ENCODE dbSUPER 18.9 -890.5 -890468 1.2 FOXA2 MLX ZNF493 ARID4B DMAP1 ZNF48 SLC30A9 ZNF121 ATF7 ZNF202 HELZ AXIN2 CEP112 PRKCA-AS1 GC17M066521 PRKCA
GH17I065563 Enhancer 1.2 Ensembl ENCODE dbSUPER 17.4 -2.9 -2931 2.4 ELF3 NFIB ZSCAN4 ARID4B SCRT2 FOS IKZF2 RUNX3 KAT8 NFIL3 AXIN2 ENSG00000265912 ENSG00000265218 PIR59324 ENSG00000266076
GH17I064607 Enhancer 0.9 dbSUPER 18.9 +953.1 953136 1.5 ZNF529 ZFP64 MZF1 ZNF121 ZNF213 ZNF354C ZNF138 ZNF366 ZNF207 RCOR1 CEP95 DDX42 SLC16A6P1 FTSJ3 POLG2 DDX5 SMARCD2 ENSG00000265982 ENSG00000265218 PLEKHM1P1
GH17I065587 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.2 -26.6 -26602 2.2 PKNOX1 FOXA2 MLX ARID4B NEUROD1 DMAP1 SP5 MIER2 PPARG GLIS1 AXIN2 PIR59324 ENSG00000266076
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AXIN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AXIN2 gene promoter:

Genomic Locations for AXIN2 Gene

Genomic Locations for AXIN2 Gene
chr17:65,528,563-65,561,647
(GRCh38/hg38)
Size:
33,085 bases
Orientation:
Minus strand
chr17:63,524,681-63,557,765
(GRCh37/hg19)

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.

Antibody Products

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

No data available for DME Specific Peptides for AXIN2 Gene

Domains & Families for AXIN2 Gene

Gene Families for AXIN2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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).

Phenotypes From GWAS Catalog for AXIN2 Gene

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 IEA,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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleus (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AXIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 12072559
GO:0005737 cytoplasm IEA,IDA 21383061
GO:0005813 centrosome IEA,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:

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
Regions:
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

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 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia AXIN2 33 34
  • 90.75 (n)
rat
(Rattus norvegicus)
Mammalia Axin2 33
  • 86.28 (n)
mouse
(Mus musculus)
Mammalia Axin2 33 16 34
  • 86.2 (n)
cow
(Bos Taurus)
Mammalia AXIN2 33 34
  • 80.55 (n)
oppossum
(Monodelphis domestica)
Mammalia AXIN2 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AXIN2 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves AXIN2 33 34
  • 77.01 (n)
lizard
(Anolis carolinensis)
Reptilia AXIN2 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5833 33
zebrafish
(Danio rerio)
Actinopterygii axin2 33 34
  • 65.87 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Axn 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1025003994 uncertain-significance, Oligodontia-colorectal cancer syndrome, not specified 65,536,530(-) T/C/G coding_sequence_variant, missense_variant
rs1032366089 uncertain-significance, Oligodontia-colorectal cancer syndrome 65,537,657(-) T/C coding_sequence_variant, missense_variant
rs10438779 benign, Oligodontia-colorectal cancer syndrome 65,529,182(-) G/A/T 3_prime_UTR_variant
rs1048751630 likely-benign, Oligodontia-colorectal cancer syndrome 65,537,563(-) G/A/C coding_sequence_variant, synonymous_variant
rs1057520237 likely-benign, uncertain-significance, not specified, Oligodontia-colorectal cancer syndrome 65,557,801(-) C/T intron_variant

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

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

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)

Additional Variant Information 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

(12) MalaCards diseases for AXIN2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for AXIN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer. (PMID: 18708403) Wang X … Couch FJ (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 22 44 58
  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 (International journal of molecular medicine 2006) 3 4 44 58
  4. Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis. (PMID: 16432638) Mostowska A … Jagodzinski PP (Journal of human genetics 2006) 3 22 44 58
  5. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson JE … Couch FJ (Breast cancer research and treatment 2011) 3 44 58

Products for AXIN2 Gene

Sources for AXIN2 Gene

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