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    AXIN2 axin 2 [ Homo sapiens (human) ]

    Gene ID: 8313, updated on 8-Oct-2017
    Official Symbol
    AXIN2provided by HGNC
    Official Full Name
    axin 2provided by HGNC
    Primary source
    HGNC:HGNC:904
    See related
    Ensembl:ENSG00000168646 MIM:604025; Vega:OTTHUMG00000179353
    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]
    Orthologs
    Location:
    17q24.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (65528563..65561622, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (63524681..63557740, 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Basal cell carcinoma, organism-specific biosystem (from KEGG)
      Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
    • Basal cell carcinoma, conserved biosystem (from KEGG)
      Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
    • Binding of TCF/LEF:CTNNB1 to target gene promoters, organism-specific biosystem (from REACTOME)
      Binding of TCF/LEF:CTNNB1 to target gene promoters, organism-specific biosystemThe genes regulated by beta-catenin and TCF/LEF are involved in a diverse range of functions in cellular proliferation, differentiation, embryogenesis and tissue homeostasis, and include transcriptio...
    • Breast cancer, organism-specific biosystem (from KEGG)
      Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
    • Breast cancer, conserved biosystem (from KEGG)
      Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
    • Canonical Wnt signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Canonical Wnt signaling pathway, organism-specific biosystem
      Canonical Wnt signaling pathway
    • Colorectal cancer, organism-specific biosystem (from KEGG)
      Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Colorectal cancer, conserved biosystem (from KEGG)
      Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Degradation of AXIN, organism-specific biosystem (from REACTOME)
      Degradation of AXIN, organism-specific biosystemAXIN is present in low concentrations in the cell and is considered to be the limiting component of the beta-catenin destruction complex in Xenopus; this may not be the case in mammalian cells, howev...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Endometrial cancer, organism-specific biosystem (from KEGG)
      Endometrial cancer, organism-specific biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
    • Endometrial cancer, conserved biosystem (from KEGG)
      Endometrial cancer, conserved biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
    • Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
      Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
      Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
      TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
    • Wnt Signaling Pathway Netpath, organism-specific biosystem (from WikiPathways)
      Wnt Signaling Pathway Netpath, organism-specific biosystemWNT signal, through the canonical pathway, controls cell fate determination and through the non-canonical pathway controls cell movement and tissue polarity. The name "wnt" is a fusion of two terms, ...
    • Wnt Signaling Pathway and Pluripotency, organism-specific biosystem (from WikiPathways)
      Wnt Signaling Pathway and Pluripotency, organism-specific biosystemThis pathway was adapted from several resources and is designed to provide a theoretical frame-work for examining Wnt signaling and interacting components in the context of embryonic stem-cell plurip...
    • Wnt signaling pathway, organism-specific biosystem (from KEGG)
      Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    • Wnt signaling pathway, conserved biosystem (from KEGG)
      Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    • Wnt/beta-catenin Signaling Pathway in Leukemia, organism-specific biosystem (from WikiPathways)
      Wnt/beta-catenin Signaling Pathway in Leukemia, organism-specific biosystemThe Wnt/Beta-catenin pathway mediates the transcription of proteins important for maintenance and growth of hematopoietic stem cells. The inhibition of Wnt leads to protein degradation through Beta-C...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC10366, MGC126582, DKFZp781B0869

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    I-SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    beta-catenin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Wnt signaling pathway TAS
    Traceable Author Statement
    more info
     
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chondrocyte differentiation involved in endochondral bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    intramembranous ossification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mRNA stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    maintenance of DNA repeat elements IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of catenin import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of osteoblast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    odontogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
     
    positive regulation of cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    regulation of centromeric sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of chondrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    secondary heart field specification IEA
    Inferred from Electronic Annotation
    more info
     
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    beta-catenin destruction complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    axin-2
    Names
    axin-like protein
    axis inhibition protein 2
    conductin

    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_004655.3NP_004646.3  axin-2

      See identical proteins and their annotated locations for NP_004646.3

      Status: REVIEWED

      Source sequence(s)
      BC101533, BE670767, CX756263, CX759580, DA785881, DA839648
      Consensus CDS
      CCDS11662.1
      UniProtKB/Swiss-Prot
      Q9Y2T1
      Related
      ENSP00000302625.5, OTTHUMP00000261190, ENST00000307078.9, OTTHUMT00000445900
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      65528563..65561622 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_017025194.1XP_016880683.1  axin-2 isoform X2

      UniProtKB/TrEMBL
      E7ES00
      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
    6. 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

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      63588742..63621757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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