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    AXIN2 axin 2 [ Homo sapiens (human) ]

    Gene ID: 8313, updated on 5-Sep-2021

    Summary

    Official Symbol
    AXIN2provided by HGNC
    Official Full Name
    axin 2provided by HGNC
    Primary source
    HGNC:HGNC:904
    See related
    Ensembl:ENSG00000168646 MIM:604025
    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
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    Genomic context

    See AXIN2 in Genome Data Viewer
    Location:
    17q24.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (65528563..65561648, complement)
    105.20201022 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 zinc finger protein 848, pseudogene Neighboring gene regulator of G protein signaling 9 Neighboring gene long intergenic non-protein coding RNA 2563 Neighboring gene chloride intracellular channel 1 pseudogene Neighboring gene dynactin subunit 6 pseudogene 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: C0009402 OMIM: 114500 GeneReviews: Lynch Syndrome
    Compare labs
    Oligodontia-colorectal cancer syndrome
    MedGen: C1837750 OMIM: 608615 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-02-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-02-13)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC10366, MGC126582, DKFZp781B0869

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables I-SMAD binding IEA
    Inferred from Electronic Annotation
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular protein localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chondrocyte differentiation involved in endochondral bone morphogenesis 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 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 cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 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
     
    Component Evidence Code Pubs
    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
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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
      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
      Q9Y2T1
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011525319.2XP_011523621.1  axin-2 isoform X1

      See identical proteins and their annotated locations for XP_011523621.1

      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
    2. XM_017025192.1XP_016880681.1  axin-2 isoform X1

      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
    3. XM_011525320.1XP_011523622.1  axin-2 isoform X1

      See identical proteins and their annotated locations for XP_011523622.1

      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
    4. XM_011525321.2XP_011523623.1  axin-2 isoform X1

      See identical proteins and their annotated locations for XP_011523623.1

      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_017025193.1XP_016880682.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      E7ES00
      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
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