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Gene : APC Homo sapiens

Name  ? APC regulator of WNT signaling pathway Cytological Location  5q22.2
Brief Description  APC, WNT signaling pathway regulator
description  This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]
  • synonyms:
  • adenomatosis polyposis coli,
  • BTPS2,
  • M74088,
  • GS,
  • HGNC:583,
  • PPP1R46,
  • OTTHUMG00000128806,
  • APC, WNT signaling pathway regulator,
  • PPP1R46,
  • adenomatous polyposis coli,
  • DP2.5,
  • DP2,
  • protein phosphatase 1, regulatory subunit 46,
  • uc003kpy.5,
  • APC,
  • DP2,
  • DP3,
  • DP2.5,
  • DP3,
  • NM_000038
  • identifiers:
  • 324,
  • ENSG00000134982,
  • APC

Genome feature

Region: gene ? Length: 138735  
Location: 5:112707505-112846239 Cyto location: 5q22.2


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Function

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37 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

5 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

37 Pathways

224 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results