Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8313
Gene name Gene Name - the full gene name approved by the HGNC.
Axin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AXIN2
Synonyms (NCBI Gene) Gene synonyms aliases
AXIL, ODCRCS
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q24.1
Summary Summary of gene provided in NCBI Entrez 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 o
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
CDX2 Activation 23393221
CDX2 Unknown 24501326
MYC Unknown 24299953
SOX4 Unknown 22098624
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604025 904 ENSG00000168646
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Adenomatous Polyposis axin2-related attenuated familial adenomatous polyposis rs730882193 N/A
colorectal cancer Colorectal cancer rs2043913790, rs267606674 N/A
Oligodontia-Cancer Predisposition Syndrome oligodontia-cancer predisposition syndrome rs1567755946, rs2043947540, rs730882193, rs1598093952, rs552141978, rs1555577625, rs1598097196, rs2044303218, rs1555583659, rs1598104209, rs2044308192, rs1555577613, rs1598118962, rs2043981878, rs367624903
View all (10 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Malignant tumor of breast N/A N/A ClinVar
Craniosynostosis craniosynostosis N/A N/A GenCC
craniosynostosis syndrome Craniosynostosis syndrome N/A N/A ClinVar
hereditary cancer Hereditary cancer N/A N/A ClinVar
Associations from Text Mining Disease 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