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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
p13.3
Chromosome location (bp)
1446302 - 1473244
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases 1. May also function in Wnt signaling by promoting the rapid degradation of CTNNB1 2,3,4....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Wnt signaling pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
O95996 [Direct mapping] Adenomatous polyposis coli protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Other congenital malformations Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level
B5MDS5 [Direct mapping] Adenomatous polyposis coli protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Other congenital malformations Other diseases Mental and behavioural disorders
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GO:0005515[protein binding] GO:0008013[beta-catenin binding] GO:0016055[Wnt signaling pathway] GO:0030178[negative regulation of Wnt signaling pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway]
O95996 [Direct mapping] Adenomatous polyposis coli protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Other congenital malformations Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level
K7ERC5 [Direct mapping] Adenomatous polyposis coli protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Other congenital malformations Other diseases Mental and behavioural disorders
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GO:0008013[beta-catenin binding] GO:0030178[negative regulation of Wnt signaling pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway]
K7EN62 [Direct mapping] Adenomatous polyposis coli protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Other congenital malformations Other diseases Mental and behavioural disorders
Show all
GO:0008013[beta-catenin binding] GO:0030178[negative regulation of Wnt signaling pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway]
O95996 [Direct mapping] Adenomatous polyposis coli protein 2
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A0A0C4DGQ0 [Direct mapping] Adenomatous polyposis coli protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Other congenital malformations Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
K7ELQ3 [Direct mapping] Adenomatous polyposis coli protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Other congenital malformations Other diseases Mental and behavioural disorders
Show all
GO:0008013[beta-catenin binding] GO:0030178[negative regulation of Wnt signaling pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway]
The Human Protein Atlas project is funded
