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gptkbp:instanceOf
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gptkb:gene
|
|
gptkbp:alias
|
axis inhibition protein 2
conductin
|
|
gptkbp:associatedWith
|
colorectal cancer
tooth agenesis
craniosynostosis
|
|
gptkbp:discoveredIn
|
1998
|
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gptkbp:encodes
|
Axin-2 protein
|
|
gptkbp:Entrez_Gene_ID
|
8313
ENSG00000168646
|
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gptkbp:expressedIn
|
various tissues
|
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gptkbp:function
|
negative regulator of Wnt signaling
|
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gptkbp:GO_term
|
GO:0016055 (Wnt signaling pathway)
GO:0005737 (cytoplasm)
GO:0005634 (nucleus)
GO:0005515 (protein binding)
|
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gptkbp:HGNC_ID
|
HGNC:902
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
AXIN2 gene
|
|
gptkbp:interactsWith
|
gptkb:APC_protein
gptkb:Dishevelled_proteins
GSK3B protein
beta-catenin protein
|
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gptkbp:involvedIn
|
gptkb:Wnt_signaling_pathway
|
|
gptkbp:length
|
8 exons
843 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
17q24.1
|
|
gptkbp:mutationAssociatedWith
|
dental anomalies
predisposition to cancer
|
|
gptkbp:OMIM
|
604025
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Axin2
|
|
gptkbp:orthologInZebrafish
|
axin2
|
|
gptkbp:proteinFamily
|
gptkb:DIX_domain
gptkb:RGS_domain
APC-binding domain
Axin family
Dishevelled-binding domain
GSK3-binding domain
beta-catenin-binding domain
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
gptkb:Wnt_signaling
beta-catenin degradation
|
|
gptkbp:reviewedBy
|
gptkb:GeneReviews
gptkb:OMIM
|
|
gptkbp:significance
|
pathogenic variants linked to cancer
pathogenic variants linked to tooth agenesis
|
|
gptkbp:UniProtID
|
Q9Y2T1
|
|
gptkbp:bfsParent
|
gptkb:TCF/LEF
gptkb:AXIN
|
|
gptkbp:bfsLayer
|
7
|