Gene: Axin2

Basic information

Tag Content
Uniprot ID O88566; Q6PFZ9; Q9QXJ6;
Entrez ID 12006
Genbank protein ID AAC26047.1; EDL34346.1; AAH57338.1; AAF22800.1;
Genbank nucleotide ID XM_006532057.3; XM_006532059.3; XM_006532058.1; NM_015732.4; XM_006532060.1;
Ensembl protein ID ENSMUSP00000051331
Ensembl nucleotide ID ENSMUSG00000000142
Gene name Axin-2
Gene symbol Axin2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage E13.5
Data sources Homology search
Reference
Functional description Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B.
Sequence
MSSAVLVTLL PDPSSSFRED APRPPVPGEE GETPPCQPSV GKVQSTKPMP VSSNARRNED 60
GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM 120
NLKDTKTLRV AKAIYKRYIE NNSVVSKQLK PATKTYIRDG IKKQQIGSVM FDQAQTEIQA 180
VMEENAYQVF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV LCGYLPTLNE EEEWTCADLK 240
CKLSPTVVGL SSKTLRATAS VRSTETAENG FRSFKRSDPV NPYHVGSGYV FAPATSANDS 300
ELSSDALTDD SMSMTDSSVD GVPPYRMGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK 360
EMTPVEPAAF AAELISRLEK LKLELESRHS LEERLQQIRE DEEKEGSEQA LSSRDGAPVQ 420
HPLALLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSPDHH HQHHHHQQCH 480
TLLPTGGKLP PVAACPLLGG KSFLTKQTTK HVHHHYIHHH AVPKTKEEIE AEATQRVRCL 540
CPGGTDYYCY SKCKSHPKAP EPLPGEQFCG SRGGTLPKRN AKGTEPGLAL SARDGGMSSA 600
AGAPQLPGEE GDRSQDVWQW MLESERQSKS KPHSAQSIRK SYPLESACAA PGERVSRHHL 660
LGASGHSRSV ARAHPFTQDP AMPPLTPPNT LAQLEEACRR LAEVSKPQKQ RCCVASQQRD 720
RNHSAAGQAG ASPFANPSLA PEDHKEPKKL ASVHALQASE LVVTYFFCGE EIPYRRMLKA 780
QSLTLGHFKE QLSKKGNYRY YFKKASDEFA CGAVFEEIWD DETVLPMYEG RILGKVERID 840

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 during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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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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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI
GO:0008013 beta-catenin bindingISO
GO:0019899 enzyme bindingISO
GO:0019901 protein kinase bindingISO
GO:0031625 ubiquitin protein ligase bindingISO
GO:0031625 ubiquitin protein ligase bindingIPI
GO:0070411 I-SMAD bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0001756 somitogenesisIDA
GO:0001934 positive regulation of protein phosphorylationISO
GO:0001957 intramembranous ossificationIMP
GO:0003139 secondary heart field specificationIGI
GO:0003413 chondrocyte differentiation involved in endochondral bone morphogenesisIMP
GO:0008219 cell deathISO
GO:0008283 cell population proliferationIMP
GO:0008285 negative regulation of cell population proliferationISO
GO:0008285 negative regulation of cell population proliferationIMP
GO:0010718 positive regulation of epithelial to mesenchymal transitionISO
GO:0010942 positive regulation of cell deathISO
GO:0016055 Wnt signaling pathwayIEA
GO:0030111 regulation of Wnt signaling pathwayIDA
GO:0030282 bone mineralizationIMP
GO:0032423 regulation of mismatch repairISO
GO:0034613 cellular protein localizationISO
GO:0042476 odontogenesisISO
GO:0043570 maintenance of DNA repeat elementsISO
GO:0045668 negative regulation of osteoblast differentiationIMP
GO:0045860 positive regulation of protein kinase activityISO
GO:0048255 mRNA stabilizationISO
GO:0061181 regulation of chondrocyte developmentIMP
GO:0070602 regulation of centromeric sister chromatid cohesionISO
GO:0070602 regulation of centromeric sister chromatid cohesionIMP
GO:0090090 negative regulation of canonical Wnt signaling pathwayISO
GO:2000054 negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specificationISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005737 cytoplasmISO
GO:0005813 centrosomeISO
GO:0005813 centrosomeIDA
GO:0032991 protein-containing complexISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-195721 Signaling by WNTIEA
R-MMU-201681 TCF dependent signaling in response to WNTIEA
R-MMU-392499 Metabolism of proteinsIEA
R-MMU-4641257 Degradation of AXINIEA
R-MMU-5688426 DeubiquitinationIEA
R-MMU-5689880 Ub-specific processing proteasesIEA
R-MMU-597592 Post-translational protein modificationIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0013 ADP-ribosylation
KW-0963 Cytoplasm
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0043 Tumor suppressor
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