Gene: AXIN2

Basic information

Tag Content
Uniprot ID Q9Y2T1; Q3MJ88; Q9H3M6; Q9UH84;
Entrez ID 8313
Genbank protein ID AAD20976.1; AAI01534.1; AAF22799.1; BAB19762.1;
Genbank nucleotide ID NM_004655.3
Ensembl protein ID ENSP00000302625
Ensembl nucleotide ID ENSG00000168646
Gene name Axin-2
Gene symbol AXIN2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 28376813; 24484320; 26602496; 22370446;
Functional description Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B.
Sequence
MSSAMLVTCL PDPSSSFRED APRPPVPGEE GETPPCQPGV GKGQVTKPMS VSSNTRRNED 60
GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM 120
NLKDTKTLRV AKAIYKRYIE NNSIVSKQLK PATKTYIRDG IKKQQIDSIM FDQAQTEIQS 180
VMEENAYQMF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV VCGYLPTLNE EEEWTCADFK 240
CKLSPTVVGL SSKTLRATAS VRSTETVDSG YRSFKRSDPV NPYHIGSGYV FAPATSANDS 300
EISSDALTDD SMSMTDSSVD GIPPYRVGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK 360
EMTPVEPATF AAELISRLEK LKLELESRHS LEERLQQIRE DEEREGSELT LNSREGAPTQ 420
HPLSLLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSPDHH HHHHSQYHSL 480
LPPGGKLPPA AASPGACPLL GGKGFVTKQT TKHVHHHYIH HHAVPKTKEE IEAEATQRVH 540
CFCPGGSEYY CYSKCKSHSK APETMPSEQF GGSRGSTLPK RNGKGTEPGL ALPAREGGAP 600
GGAGALQLPR EEGDRSQDVW QWMLESERQS KPKPHSAQST KKAYPLESAR SSPGERASRH 660
HLWGGNSGHP RTTPRAHLFT QDPAMPPLTP PNTLAQLEEA CRRLAEVSKP PKQRCCVASQ 720
QRDRNHSATV QTGATPFSNP SLAPEDHKEP KKLAGVHALQ ASELVVTYFF CGEEIPYRRM 780
LKAQSLTLGH FKEQLSKKGN YRYYFKKASD EFACGAVFEE IWEDETVLPM YEGRILGKVE 840
RID 843

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologAXIN2490903E2R9F8Canis lupus familiarisPredictionMore>>
1:1 orthologAXIN2102180348A0A452FEH8Capra hircusPredictionMore>>
1:1 orthologAXIN28313Q9Y2T1Homo sapiensPublicationMore>>
1:1 orthologAxin212006O88566E13.5Mus musculusPredictionMore>>
1:1 orthologAXIN2468301A0A2I3SZU8Pan troglodytesPredictionMore>>
1:1 orthologAXIN2A0A287BFQ6Sus scrofaPredictionMore>>
1:1 orthologAxin2A0A0G2K4L4Rattus norvegicusPredictionMore>>
1:1 orthologaxin258080P57095Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
AXIN2rs2240307PCR24484320
AXIN2rs7224837Family-based Association Test22370446
AXIN2rs1133683C>T (homozygous; increase risk)PCR-RFLP31268379
AXIN2rs7210356G>AGenontyping; TDT28376813
AXIN2rs11655966*TGenotyping26602496

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI
GO:0008013 beta-catenin bindingNAS
GO:0019899 enzyme bindingIPI
GO:0031625 ubiquitin protein ligase bindingIPI
GO:0070411 I-SMAD bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0001756 somitogenesisIEA
GO:0001934 positive regulation of protein phosphorylationIMP
GO:0001957 intramembranous ossificationIEA
GO:0003139 secondary heart field specificationIEA
GO:0003413 chondrocyte differentiation involved in endochondral bone morphogenesisIEA
GO:0008283 cell population proliferationIEA
GO:0008285 negative regulation of cell population proliferationIMP
GO:0010718 positive regulation of epithelial to mesenchymal transitionIMP
GO:0010942 positive regulation of cell deathIMP
GO:0016055 Wnt signaling pathwayIEA
GO:0030282 bone mineralizationIEA
GO:0032423 regulation of mismatch repairIMP
GO:0034613 cellular protein localizationIDA
GO:0042476 odontogenesisIMP
GO:0043570 maintenance of DNA repeat elementsIMP
GO:0045668 negative regulation of osteoblast differentiationIEA
GO:0048255 mRNA stabilizationIMP
GO:0061181 regulation of chondrocyte developmentIEA
GO:0070602 regulation of centromeric sister chromatid cohesionIMP
GO:0090090 negative regulation of canonical Wnt signaling pathwayIMP
GO:0090090 negative regulation of canonical Wnt signaling pathwayIDA
GO:0090263 positive regulation of canonical Wnt signaling pathwayTAS
GO:1904837 beta-catenin-TCF complex assemblyTAS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005737 cytoplasmIDA
GO:0005813 centrosomeIDA
GO:0005829 cytosolTAS
GO:0030877 beta-catenin destruction complexNAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-162582 Signal TransductionTAS
R-HSA-195721 Signaling by WNTTAS
R-HSA-201681 TCF dependent signaling in response to WNTTAS
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complexTAS
R-HSA-392499 Metabolism of proteinsTAS
R-HSA-4411364 Binding of TCF/LEF:CTNNB1 to target gene promotersTAS
R-HSA-4641257 Degradation of AXINTAS
R-HSA-5688426 DeubiquitinationTAS
R-HSA-5689880 Ub-specific processing proteasesTAS
R-HSA-597592 Post-translational protein modificationTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0013 ADP-ribosylation
KW-0963 Cytoplasm
KW-0217 Developmental protein
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0832 Ubl conjugation
KW-0879 Wnt signaling pathway

Interpro

InterPro ID InterPro Term
IPR014936 Axin_b-cat-bd
IPR032101 Axin_TNKS-bd
IPR001158 DIX
IPR038207 DIX_dom_sf
IPR016137 RGS
IPR036305 RGS_sf
IPR024066 RGS_subdom1/3
IPR029071 Ubiquitin-like_domsf

PROSITE

PROSITE ID PROSITE Term
PS50841 DIX
PS50132 RGS

Pfam

Pfam ID Pfam Term
PF16646 AXIN1_TNKS_BD
PF08833 Axin_b-cat_bind
PF00778 DIX
PF00615 RGS

Protein-protein interaction

Protein-miRNA interaction