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    AXIN2 axin 2 [ Homo sapiens (human) ]

    Gene ID: 8313, updated on 17-Jun-2024

    Summary

    Official Symbol
    AXIN2provided by HGNC
    Official Full Name
    axin 2provided by HGNC
    Primary source
    HGNC:HGNC:904
    See related
    Ensembl:ENSG00000168646 MIM:604025; AllianceGenome:HGNC:904
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AXIL; ODCRCS
    Summary
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 8.4), lung (RPKM 7.1) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AXIN2 in Genome Data Viewer
    Location:
    17q24.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (65528563..65561648, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (66399210..66432347, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (63524681..63557766, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12609 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63179396-63179932 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63179933-63180469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63181573-63182096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63182097-63182620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63220448-63221252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63221253-63222057 Neighboring gene zinc finger protein 848, pseudogene Neighboring gene regulator of G protein signaling 9 Neighboring gene MPRA-validated peak2941 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:63358670-63359869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63434615-63435115 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:63451995-63452494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63456111-63456744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63456745-63457378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63457379-63458011 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:63491028-63491660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63492294-63492926 Neighboring gene long intergenic non-protein coding RNA 2563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63519932-63520432 Neighboring gene Sharpr-MPRA regulatory region 3713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63526146-63526660 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63526661-63527173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63527688-63528200 Neighboring gene MPRA-validated peak2942 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63550543-63551315 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63551316-63552089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12611 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63568601-63569439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63579618-63580152 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:63589757-63590572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:63625333-63625832 Neighboring gene chloride intracellular channel 1 pseudogene Neighboring gene dynactin subunit 6-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12612 Neighboring gene centrosomal protein 112

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    Compare labs
    Oligodontia-cancer predisposition syndrome
    MedGen: C1837750 OMIM: 608615 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-12-08)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-12-08)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC10366, MGC126582, DKFZp781B0869

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables I-SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables beta-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables beta-catenin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondrocyte differentiation involved in endochondral bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal/ventral axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intramembranous ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in maintenance of DNA repeat elements IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitral valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of centromeric sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of centromeric sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of chondrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of extracellular matrix organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in secondary heart field specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of beta-catenin destruction complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of beta-catenin destruction complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    axin-2
    Names
    axin-like protein
    axis inhibition protein 2
    conductin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012142.1 RefSeqGene

      Range
      5001..38060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_296

    mRNA and Protein(s)

    1. NM_001363813.1NP_001350742.1  axin-2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC115994
      Consensus CDS
      CCDS86634.1
      UniProtKB/TrEMBL
      E7ES00, Q5H9R8
      Related
      ENSP00000478916.1, ENST00000618960.4
      Conserved Domains (4) summary
      cd08707
      Location:82198
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      smart00021
      Location:696778
      DAX; Domain present in Dishevelled and axin
      pfam08833
      Location:432467
      Axin_b-cat_bind; Axin beta-catenin binding domain
      pfam16646
      Location:1073
      AXIN1_TNKS_BD; Axin-1 tankyrase binding domain
    2. NM_004655.4NP_004646.3  axin-2 isoform 1

      See identical proteins and their annotated locations for NP_004646.3

      Status: REVIEWED

      Source sequence(s)
      BC101533, BE670767, CX756263, CX759580, DA754981, DA785881, DA839648
      Consensus CDS
      CCDS11662.1
      UniProtKB/Swiss-Prot
      Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1
      UniProtKB/TrEMBL
      Q5H9R8
      Related
      ENSP00000302625.5, ENST00000307078.10
      Conserved Domains (4) summary
      cd08707
      Location:82198
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      smart00021
      Location:761843
      DAX; Domain present in Dishevelled and axin
      pfam08833
      Location:432467
      Axin_b-cat_bind; Axin beta-catenin binding domain
      pfam16646
      Location:1073
      AXIN1_TNKS_BD; Axin-1 tankyrase binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      65528563..65561648 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436872.1XP_047292828.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      E7ES00, Q5H9R8
      Related
      ENSP00000364854.5, ENST00000375702.5
    2. XM_047436870.1XP_047292826.1  axin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1
      UniProtKB/TrEMBL
      Q5H9R8
    3. XM_047436873.1XP_047292829.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      E7ES00, Q5H9R8
    4. XM_011525319.3XP_011523621.1  axin-2 isoform X1

      See identical proteins and their annotated locations for XP_011523621.1

      UniProtKB/Swiss-Prot
      Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1
      UniProtKB/TrEMBL
      Q5H9R8
      Conserved Domains (4) summary
      cd08707
      Location:82198
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      smart00021
      Location:761843
      DAX; Domain present in Dishevelled and axin
      pfam08833
      Location:432467
      Axin_b-cat_bind; Axin beta-catenin binding domain
      pfam16646
      Location:1073
      AXIN1_TNKS_BD; Axin-1 tankyrase binding domain
    5. XM_017025192.2XP_016880681.1  axin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1
      UniProtKB/TrEMBL
      Q5H9R8
      Conserved Domains (4) summary
      cd08707
      Location:82198
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      smart00021
      Location:761843
      DAX; Domain present in Dishevelled and axin
      pfam08833
      Location:432467
      Axin_b-cat_bind; Axin beta-catenin binding domain
      pfam16646
      Location:1073
      AXIN1_TNKS_BD; Axin-1 tankyrase binding domain
    6. XM_047436874.1XP_047292830.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      E7ES00, Q5H9R8
    7. XM_017025193.2XP_016880682.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      E7ES00, Q5H9R8
      Conserved Domains (4) summary
      cd08707
      Location:82198
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      smart00021
      Location:696778
      DAX; Domain present in Dishevelled and axin
      pfam08833
      Location:432467
      Axin_b-cat_bind; Axin beta-catenin binding domain
      pfam16646
      Location:1073
      AXIN1_TNKS_BD; Axin-1 tankyrase binding domain
    8. XM_011525320.2XP_011523622.1  axin-2 isoform X1

      See identical proteins and their annotated locations for XP_011523622.1

      UniProtKB/Swiss-Prot
      Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1
      UniProtKB/TrEMBL
      Q5H9R8
      Conserved Domains (4) summary
      cd08707
      Location:82198
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      smart00021
      Location:761843
      DAX; Domain present in Dishevelled and axin
      pfam08833
      Location:432467
      Axin_b-cat_bind; Axin beta-catenin binding domain
      pfam16646
      Location:1073
      AXIN1_TNKS_BD; Axin-1 tankyrase binding domain
    9. XM_047436871.1XP_047292827.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      E7ES00, Q5H9R8
    10. XM_011525321.3XP_011523623.1  axin-2 isoform X1

      See identical proteins and their annotated locations for XP_011523623.1

      UniProtKB/Swiss-Prot
      Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1
      UniProtKB/TrEMBL
      Q5H9R8
      Conserved Domains (4) summary
      cd08707
      Location:82198
      RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein
      smart00021
      Location:761843
      DAX; Domain present in Dishevelled and axin
      pfam08833
      Location:432467
      Axin_b-cat_bind; Axin beta-catenin binding domain
      pfam16646
      Location:1073
      AXIN1_TNKS_BD; Axin-1 tankyrase binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      66399210..66432347 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317460.1XP_054173435.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      B7ZKL5, Q5H9R8
    2. XM_054317455.1XP_054173430.1  axin-2 isoform X1

      UniProtKB/TrEMBL
      Q5H9R8
    3. XM_054317458.1XP_054173433.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      B7ZKL5, Q5H9R8
    4. XM_054317451.1XP_054173426.1  axin-2 isoform X1

      UniProtKB/TrEMBL
      Q5H9R8
    5. XM_054317452.1XP_054173427.1  axin-2 isoform X1

      UniProtKB/TrEMBL
      Q5H9R8
    6. XM_054317459.1XP_054173434.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      B7ZKL5, Q5H9R8
    7. XM_054317456.1XP_054173431.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      B7ZKL5, Q5H9R8
    8. XM_054317453.1XP_054173428.1  axin-2 isoform X1

      UniProtKB/TrEMBL
      Q5H9R8
    9. XM_054317457.1XP_054173432.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      B7ZKL5, Q5H9R8
    10. XM_054317454.1XP_054173429.1  axin-2 isoform X1

      UniProtKB/TrEMBL
      Q5H9R8