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AXIN2 axin 2 [ Homo sapiens (human) ]

Gene ID: 8313, updated on 7-Jun-2020

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

Genomic context

See AXIN2 in Genome Data Viewer
Location:
17q24.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (65528563..65561648, 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

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
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
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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
odontogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

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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