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Gene

APC

APC regulator of Wnt signaling pathway

Summary

Cytogenetic location
5q22.2
Coordinates
Chromosome 5: 112,737,885–112,846,239 (GRCh38)
Exons
16 exons across 108.4 kb
Protein
2,843 amino acids
Inheritance
Autosomal dominant
Also known as
DP2, DP3, DP2.5, PPP1R46
MANE Select transcript
ENST00000257430.9NM_000038.6
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Colorectal Cancer & Polyposis

    • Gastric Adenocarcinoma And Proximal Polyposis Of The StomachAutosomal dominant

      A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
    • Familial adenomatous polyposis (classic or attenuated)Autosomal dominant

      Hundreds to thousands of colorectal adenomas with a near-certain risk of colorectal cancer without treatment; includes APC-related FAP and MUTYH-, NTHL1- and MSH3-related polyposis.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How APC is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 5, with a bracket where APC sits. APC and 6 genes near it on chromosome 5, from 112,292,062 to 113,292,061.Chromosome 55q22.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3112.4 Mb112.6 Mb112.8 Mb113 Mb113.2 MbEPB41L4A: 112,139,043–112,419,313, reverse strandEPB41L4AAPC: 112,737,885–112,846,239, forward strandAPC: 112,827,213–112,867,582, forward strandSRP19: 112,861,188–112,898,371, forward strandSRP19REEP5: 112,876,385–112,922,363, reverse strandREEP5DCP2: 112,976,702–113,028,477, forward strandDCP2MCC: 113,022,106–113,488,823, reverse strandMCCDiagram of APC: 16 exons on the forward strand of chromosome 5Exon 2: 18 known disease-causing sitesExon 3: 27 known disease-causing sitesExon 4: 52 known disease-causing sitesExon 5: 45 known disease-causing sitesExon 6: 40 known disease-causing sitesExon 7: 19 known disease-causing sitesExon 8: 23 known disease-causing sitesExon 9: 33 known disease-causing sitesExon 10: 97 known disease-causing sitesExon 11: 28 known disease-causing sitesExon 12: 49 known disease-causing sitesExon 13: 33 known disease-causing sitesExon 14: 36 known disease-causing sitesExon 15: 63 known disease-causing sitesExon 16: 1,273 known disease-causing sitesExon 1: 112,737,885–112,737,925, 41 basesExon 2: 112,754,873–112,755,025, 153 bases. 6 variants with a page in exon 2. List themExon 3: 112,766,326–112,766,410, 85 bases. 10 variants with a page in exon 3. List themExon 4: 112,767,189–112,767,390, 202 bases. 16 variants with a page in exon 4. List themExon 5: 112,775,629–112,775,737, 109 bases. 26 variants with a page in exon 5. List themExon 6: 112,780,790–112,780,903, 114 bases. 9 variants with a page in exon 6. List themExon 7: 112,792,446–112,792,529, 84 bases. 10 variants with a page in exon 7. List themExon 8: 112,801,279–112,801,383, 105 bases. 9 variants with a page in exon 8. List themExon 9: 112,815,495–112,815,593, 99 bases. 10 variants with a page in exon 9. List themExon 10: 112,818,966–112,819,344, 379 bases. 44 variants with a page in exon 10. List themExon 11: 112,821,896–112,821,991, 96 bases. 10 variants with a page in exon 11. List themExon 12: 112,827,108–112,827,247, 140 bases. 16 variants with a page in exon 12. List themExon 13: 112,827,929–112,828,006, 78 bases. 12 variants with a page in exon 13. List themExon 14: 112,828,856–112,828,972, 117 bases. 13 variants with a page in exon 14. List themExon 15: 112,834,951–112,835,165, 215 bases. 27 variants with a page in exon 15. List themExon 16: 112,837,553–112,846,239, 8,687 bases. 409 variants with a page in exon 16. List them151015165′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 10.7 kb of the gene's 108.4 kb; 8,532 of those bases code for the protein.

How a genome test reads APC

1,946

positions in APC where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 108.4 kb of APC, introns included, not only the 10.7 kb of exons.

Variants with a page (721)

The APC variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantExon or intronPosition (GRCh38)ClinVar classificationReview status
c.220+1G>AIntron 3112,766,411Pathogenic3 stars out of 4 reviewed by expert panel
c.220+2T>AIntron 3112,766,412Pathogenic3 stars out of 4 reviewed by expert panel
c.423-8A>GIntron 4112,775,621Likely pathogenic3 stars out of 4 reviewed by expert panel
c.423-9A>GIntron 4112,775,620Likely pathogenic3 stars out of 4 reviewed by expert panel
c.423-11A>GIntron 4112,775,618Likely pathogenic3 stars out of 4 reviewed by expert panel
c.471G>AExon 5112,775,677Pathogenic3 stars out of 4 reviewed by expert panel
c.531+1_531+4delExon 5112,775,737Likely pathogenic3 stars out of 4 reviewed by expert panel
c.531+5G>AIVS5+5G>AIntron 5112,775,742Likely pathogenic3 stars out of 4 reviewed by expert panel
c.531+5G>CIntron 5112,775,742Likely pathogenic3 stars out of 4 reviewed by expert panel
c.531+6T>CIntron 5112,775,743Likely pathogenic3 stars out of 4 reviewed by expert panel

See all 721 APC variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). APC gene: APC regulator of Wnt signaling pathway. Retrieved 16 October 2026, from https://dantelabs.com/genes/apc

Vancouver

Dante Labs. APC gene: APC regulator of Wnt signaling pathway [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/apc

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