AXIN2
Axin-2
Also known as: AXIN2_HUMAN, DKFZp781B0869, MGC126582
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y2T1
- Gene
- AXIN2
- Ensembl
- ENSG00000168646
- Chromosome
- 17
- Canonical length
- 843 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Plasma membrane,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
843 residues, UniProt reviewed canonical sequence.
>Q9Y2T1|AXIN2
1 MSSAMLVTCL PDPSSSFRED APRPPVPGEE GETPPCQPGV GKGQVTKPMP VSSNTRRNED
61 GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM
121 NLKDTKTLRV AKAIYKRYIE NNSIVSKQLK PATKTYIRDG IKKQQIDSIM FDQAQTEIQS
181 VMEENAYQMF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV VCGYLPTLNE EEEWTCADFK
241 CKLSPTVVGL SSKTLRATAS VRSTETVDSG YRSFKRSDPV NPYHIGSGYV FAPATSANDS
301 EISSDALTDD SMSMTDSSVD GIPPYRVGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK
361 EMTPVEPATF AAELISRLEK LKLELESRHS LEERLQQIRE DEEREGSELT LNSREGAPTQ
421 HPLSLLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSPDHH HHHHSQYHSL
481 LPPGGKLPPA AASPGACPLL GGKGFVTKQT TKHVHHHYIH HHAVPKTKEE IEAEATQRVH
541 CFCPGGSEYY CYSKCKSHSK APETMPSEQF GGSRGSTLPK RNGKGTEPGL ALPAREGGAP
601 GGAGALQLPR EEGDRSQDVW QWMLESERQS KPKPHSAQST KKAYPLESAR SSPGERASRH
661 HLWGGNSGHP RTTPRAHLFT QDPAMPPLTP PNTLAQLEEA CRRLAEVSKP PKQRCCVASQ
721 QRDRNHSATV QTGATPFSNP SLAPEDHKEP KKLAGVHALQ ASELVVTYFF CGEEIPYRRM
781 LKAQSLTLGH FKEQLSKKGN YRYYFKKASD EFACGAVFEE IWEDETVLPM YEGRILGKVE
841 RIDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AXIN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 23 nTPM
Expression across tissuesHPA
Tissue
- endometrium: 23 nTPM
- fallopian tube: 18 nTPM
- placenta: 17 nTPM
- smooth muscle: 16 nTPM
- cervix: 16 nTPM
- thymus: 16 nTPM
Single-cell type
- extravillous trophoblasts: 144 nCPM
- migrating cytotrophoblasts: 42 nCPM
- early spermatids: 35 nCPM
- bergmann glia: 34 nCPM
- enteric stem cells: 34 nCPM
- paneth cells: 31 nCPM
Immune cell
- basophil: 3.2 nTPM
- naive CD4 T-cell: 2.3 nTPM
- naive B-cell: 1.8 nTPM
- memory CD4 T-cell: 1.1 nTPM
- NK-cell: 1 nTPM
- memory B-cell: 0.5 nTPM
Brain region
- thalamus: 37 nTPM
- hippocampal formation: 32 nTPM
- medulla oblongata: 31 nTPM
- midbrain: 30 nTPM
- cerebellum: 30 nTPM
- cerebral cortex: 29 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AXIN2.
Disease | AllUniProt
Conditions AXIN2 is implicated in, by any mechanism.
- Colorectal cancer (CRC) MIM:114500
- Oligodontia-colorectal cancer syndrome (ODCRCS) MIM:608615
Disease | GeneticClinVar
199 pathogenic / likely-pathogenic of 4,312 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Oligodontia-cancer predisposition syndrome
- Hereditary cancer-predisposing syndrome
- Colorectal cancer
- AXIN2-related attenuated familial adenomatous polyposis
- AXIN2-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.4
- gnomAD pLI
- 0.57
- gnomAD missense Z
- 0.07
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aortic valve morphogenesis
- bone mineralization
- canonical Wnt signaling pathway
- cell development
- cellular response to dexamethasone stimulus
- chondrocyte differentiation involved in endochondral bone morphogenesis
- dorsal/ventral axis specification
- intracellular protein localization
- intramembranous ossification
- maintenance of DNA repeat elements
- mitral valve morphogenesis
- mRNA stabilization
- negative regulation of canonical Wnt signaling pathway
- negative regulation of osteoblast differentiation
- negative regulation of osteoblast proliferation
- odontogenesis
- osteoblast differentiation
- osteoblast proliferation
- positive regulation of epithelial to mesenchymal transition
- positive regulation of fat cell differentiation
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- proteasome-mediated ubiquitin-dependent protein catabolic process
- regulation of centromeric sister chromatid cohesion
- regulation of extracellular matrix organization
- secondary heart field specification
- somitogenesis
- stem cell proliferation
- regulation of chondrocyte development
- regulation of mismatch repair
Molecular functions
- beta-catenin binding
- enzyme binding
- I-SMAD binding
- molecular adaptor activity
- protein kinase binding
- ubiquitin protein ligase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- DIX domain
- Axin beta-catenin binding
- RGS domain
- RGS, subdomain 1/3
- Ubiquitin-like domain superfamily
- Axin-1/2, tankyrase-binding domain
- RGS domain superfamily
- DIX domain superfamily
- Axin-like
- RGS, subdomain 2
- Regulator of G protein signaling domain
- DIX domain
- Axin beta-catenin binding motif
- Axin-1 tankyrase binding domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AXIN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AXIN2 as an antibody target. Whether an autoantibody or antibody against AXIN2 could matter depends on whether native AXIN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AXIN2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AXIN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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