APC APC regulator of WNT signaling pathway

Gene ID: 324, updated on 26-Mar-2023
Gene type: protein coding
Also known as: GS; DP2; DP3; BTPS2; DESMD; DP2.5; PPP1R46

Summary

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. Mutations in the APC gene have been found to occur in most colorectal cancers, where 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, Jun 2022]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Colorectal cancer MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome	See labs
Desmoid disease, hereditary MedGen: C1851124OMIM: 135290GeneReviews: APC-Associated Polyposis Conditions	See labs
Familial adenomatous polyposis 1 MedGen: C2713442OMIM: 175100GeneReviews: APC-Associated Polyposis Conditions	See labs
Familial multiple polyposis syndrome MedGen: C0032580GeneReviews: Not available	See labs
Gastric adenocarcinoma and proximal polyposis of the stomach MedGen: C4749917OMIM: 619182GeneReviews: APC-Associated Polyposis Conditions	See labs
Gastric cancer MedGen: C0024623OMIM: 613659GeneReviews: Not available	See labs
Hepatocellular carcinoma MedGen: C2239176OMIM: 114550GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-07-18) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-18) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 5q22.2

Sequence:: Chromosome: 5; NC_000005.10 (112707498..112846239)

Total number of exons:: 20

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for APC variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

APC @ ZAC-GGM
BioSystems
BioSystems
ClinVar
Related medical variations
Colon cancer gene variant databases: Adenomatous Polyposis Coli (APC)
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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