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AXIN2 axin 2 [ Homo sapiens (human) ]

Gene ID: 8313, updated on 25-Nov-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
109.20211119 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 long intergenic non-protein coding RNA 2563 Neighboring gene Sharpr-MPRA regulatory region 3713 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?

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 protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
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 death 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 cellular response to organic cyclic compound 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 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 Wnt signaling pathway involved in dorsal/ventral axis specification IEA
Inferred from Electronic Annotation
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 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 kinase activity IEA
Inferred from Electronic Annotation
more info
 
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)

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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 109.20211119

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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