APC APC regulator of WNT signaling pathway
Gene ID: 324, updated on 29-Mar-2023Gene type: protein coding
Also known as: GS; DP2; DP3; BTPS2; DESMD; DP2.5; PPP1R46
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- Go to complete Gene record for APC
- Go to Variation Viewer for APC variants
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
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Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-07-18) ClinGen Genome Curation PageHaploinsufficency 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for APC variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- APC @ ZAC-GGM
- BioSystemsBioSystems
- ClinVarRelated medical variations
- Colon cancer gene variant databases: Adenomatous Polyposis Coli (APC)
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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