Gene Gene information from NCBI Gene database.
Entrez ID 8313
Gene name Axin 2
Gene symbol AXIN2
Synonyms (NCBI Gene)
AXILODCRCS
Chromosome 17
Chromosome location 17q24.1
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 o
SNPs SNP information provided by dbSNP.
45
SNP ID Visualize variation Clinical significance Consequence
rs121908567 C>A,T Pathogenic Coding sequence variant, missense variant, stop gained
rs121908568 G>A Pathogenic Coding sequence variant, stop gained
rs138287857 G>A Likely-pathogenic, likely-benign, benign-likely-benign Coding sequence variant, missense variant
rs139316692 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, benign Coding sequence variant, synonymous variant
rs139871607 T>C Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
374
miRTarBase ID miRNA Experiments Reference
MIRT001232 hsa-miR-34a-5p Luciferase reporter assay 19336450
MIRT001232 hsa-miR-34a-5p Luciferase reporter assay 19336450
MIRT001232 hsa-miR-34a-5p Luciferase reporter assay 19336450
MIRT001232 hsa-miR-34a-5p Luciferase reporter assay 19336450
MIRT006750 hsa-miR-15b-5p Luciferase reporter assay 21501592
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
CDX2 Activation 23393221
CDX2 Unknown 24501326
MYC Unknown 24299953
SOX4 Unknown 22098624
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
69
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation IEA
GO:0001756 Process Somitogenesis IEA
GO:0001957 Process Intramembranous ossification IEA
GO:0003139 Process Secondary heart field specification IEA
GO:0003180 Process Aortic valve morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604025 904 ENSG00000168646
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2T1
Protein name Axin-2 (Axin-like protein) (Axil) (Axis inhibition protein 2) (Conductin)
Protein function Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B.
PDB 8HEO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16646 AXIN1_TNKS_BD 9 73 Axin-1 tankyrase binding domain Disordered
PF00615 RGS 81 199 Regulator of G protein signaling domain Domain
PF08833 Axin_b-cat_bind 433 469 Axin beta-catenin binding motif Motif
PF00778 DIX 762 841 DIX domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and lymphoblast.
Sequence
MSSAMLVTCLPDPSSSFREDAPRPPVPGEEGETPPCQPGVGKGQVTKPMSVSSNTRRNED
GLGEPEGRASPDS
PLTRWTKSLHSLLGDQDGAYLFRTFLEREKCVDTLDFWFACNGFRQM
NLKDTKTLRVAKAIYKRYIENNSIVSKQLKPATKTYIRDGIKKQQIDSIMFDQAQTEIQS
VMEENAYQMFLTSDIYLEY
VRSGGENTAYMSNGGLGSLKVVCGYLPTLNEEEEWTCADFK
CKLSPTVVGLSSKTLRATASVRSTETVDSGYRSFKRSDPVNPYHIGSGYVFAPATSANDS
EISSDALTDDSMSMTDSSVDGIPPYRVGSKKQLQREMHRSVKANGQVSLPHFPRTHRLPK
EMTPVEPATFAAELISRLEKLKLELESRHSLEERLQQIREDEEREGSELTLNSREGAPTQ
HPLSLLPSGSYEEDPQTILDDHLSRVLKTPGCQSPGVGRYSPRSRSPDHHHHHHSQYHSL
LPPGGKLPPAAASPGACPLLGGKGFVTKQTTKHVHHHYIHHHAVPKTKEEIEAEATQRVH
CFCPGGSEYYCYSKCKSHSKAPETMPSEQFGGSRGSTLPKRNGKGTEPGLALPAREGGAP
GGAGALQLPREEGDRSQDVWQWMLESERQSKPKPHSAQSTKKAYPLESARSSPGERASRH
HLWGGNSGHPRTTPRAHLFTQDPAMPPLTPPNTLAQLEEACRRLAEVSKPPKQRCCVASQ
QRDRNHSATVQTGATPFSNPSLAPEDHKEPKKLAGVHALQASELVVTYFFCGEEIPYRRM
LKAQSLTLGHFKEQLSKKGNYRYYFKKASDEFACGAVFEEIWEDETVLPMYEGRILGKVE
R
ID
Sequence length 843
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Colorectal cancer
Endometrial cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  TCF dependent signaling in response to WNT
Binding of TCF/LEF:CTNNB1 to target gene promoters
Degradation of AXIN
Ub-specific processing proteases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6922
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AXIN2-related attenuated familial adenomatous polyposis Pathogenic; Likely pathogenic rs2144440026, rs2043915274, rs2144440630, rs911977110, rs2144443827, rs2144457016, rs2144461122, rs2144589643, rs730882193 RCV001647267
RCV001647266
RCV001647265
RCV001647264
RCV001647263
RCV001647262
RCV001647261
RCV001647260
RCV001642532
AXIN2-related disorder Likely pathogenic; Pathogenic rs752865337, rs1458077502, rs2509389531 RCV004529186
RCV004529192
RCV003335879
Carcinoma of colon Pathogenic; Likely pathogenic rs121908567, rs267606674 RCV000006237
RCV000006238
Colorectal cancer Likely pathogenic; Pathogenic rs2144500829, rs267606674, rs759917468, rs746837986, rs2544255457, rs2544248410, rs75747149, rs2144477057, rs2544195997, rs2144540259, rs2144540270, rs2509397361, rs1567755946, rs2043913790, rs781384784 RCV003475131
RCV003472981
RCV003475456
RCV003475566
RCV003475567
RCV003474290
RCV003474291
RCV003474292
RCV003474293
RCV003474294
RCV003474295
RCV003474296
RCV004568476
RCV000735963
RCV003473628
RCV003473777
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aganglionic megacolon Conflicting classifications of pathogenicity rs138287857 RCV000736045
Colorectal carcinoma Conflicting classifications of pathogenicity rs2144478938 RCV002329757
Craniosynostosis syndrome Uncertain significance rs1567754376 RCV001719159
Familial prostate cancer Benign rs7591 RCV005894658
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 26297437
Adenocarcinoma Mucinous Inhibit 18422752
Adenoma Associate 24964857, 27245242, 32258125, 32807118
Adenomatous Polyposis Coli Associate 11752446, 21416598, 23838596, 27482906, 32807118, 36502525
Adenomatous Polyposis Coli Inhibit 11940574, 18708403
Adenomatous Polyposis Coli Stimulate 30072583
Adrenocortical Carcinoma Associate 29872083
Anemia Hemolytic Associate 30942098
Angiofibroma Associate 26572152
Anodontia Associate 15042511, 18683894, 18790474, 23227268, 24160254, 24631698, 29893310, 31781599, 31914153, 32807118, 36017684, 36502525, 36860143, 38115305, 39183201