APC Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the APC (APC regulator of WNT signaling pathway) gene, including its genomic context, protein function, associated diseases, expression patterns, and mutation landscape.
Gene Information Card
| Symbol | APC |
|---|---|
| Full Name | APC regulator of WNT signaling pathway |
| Gene Type | protein coding |
| Chromosomal Location | 5q22.2 |
| NCBI Gene ID | 324 ncbi.nlm.nih.gov/gene/324 |
| Ensembl ID | ENSG00000134982 |
| UniProt ID | P25054 |
| OMIM ID | 611731 |
| HGNC ID | 583 |
| Aliases | DP2.5, DP3, DP4, DP2.5, BTPS2, FAP, FPC, GS |
Description
The APC gene encodes the adenomatous polyposis coli protein, a key tumor suppressor that negatively regulates the WNT signaling pathway. It is involved in cell adhesion, migration, and apoptosis. Mutations in APC are strongly associated with familial adenomatous polyposis (FAP) and sporadic colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial adenomatous polyposis (FAP) | Germline loss-of-function mutations lead to truncated APC protein, causing uncontrolled WNT signaling and polyp formation. | OMIM: 175100; ClinVar |
| Colorectal cancer (sporadic) | Somatic mutations (often truncating) in APC are found in ~80% of sporadic colorectal tumors, driving tumorigenesis. | COSMIC; ClinVar |
| Gardner syndrome | A variant of FAP with extracolonic manifestations, caused by APC mutations. | OMIM: 175100 |
| Turcot syndrome | APC mutations associated with brain tumors (medulloblastoma) and colorectal polyps. | OMIM: 276300 |
| Desmoid tumors | APC mutations, particularly in the 3' region, predispose to aggressive fibromatosis. | OMIM: 135290 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | High | Strong expression in intestinal epithelium |
| Small intestine | High | Present in crypt cells |
| Stomach | Moderate | Gastric mucosa |
| Liver | Low | Hepatocytes |
| Brain | Low | Neurons and glia |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | High | Colorectal adenocarcinoma cell line |
| HCT116 | Moderate | Colorectal carcinoma (wild-type APC) |
| SW480 | Low | Colorectal adenocarcinoma (mutant APC) |
| HEK293 | Moderate | Embryonic kidney cells (transfected) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3920T>A (p.Ile1307Lys) | SNV | ~6% in Ashkenazi Jewish population | Increased risk of colorectal cancer; not fully penetrant |
| c.3927_3931del (p.Glu1309Aspfs*4) | Deletion | Common in FAP; ~10% of FAP families | Truncating mutation, loss of function |
| c.739_740insA (p.Thr247Asnfs*5) | Insertion | Rare | Truncating, loss of function |
| c.2626C>T (p.Arg876*) | Nonsense | Somatic in colorectal cancer | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most APC mutations are loss-of-function, leading to truncated proteins that fail to regulate beta-catenin degradation, resulting in constitutive WNT signaling.
Gain of Function (GOF)
Gain-of-function mutations are rare; some missense variants may alter protein-protein interactions but are not clearly activating.
Dominant Negative (DN)
Truncated APC proteins can exert dominant-negative effects by interfering with wild-type APC function in heterozygous cells.
View complete mutation data：
Gene Ontology (GO)
| • beta-catenin binding | • protein kinase binding |
| • microtubule binding | • cell adhesion molecule binding |
| • WNT signaling pathway | • negative regulation of canonical WNT signaling pathway |
| • cell migration | • apoptotic process |
Pathways
• WNT signaling pathway (KEGG: hsa04310)
• Colorectal cancer (KEGG: hsa05210)
• Hippo signaling pathway (Reactome: R-HSA-195258)
• Regulation of APC/C activators between G1/S and early anaphase (Reactome: R-HSA-176408)
Protein Summary
The APC protein is a large (2843 amino acids) multi-domain protein that acts as a scaffold in the destruction complex, facilitating beta-catenin phosphorylation and degradation. It also plays roles in cell adhesion (via interaction with beta-catenin and E-cadherin), cytoskeletal regulation (microtubule binding), and chromosome stability. Loss of APC function leads to nuclear beta-catenin accumulation and activation of WNT target genes, driving tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APC2 Knockout HEK293 Cell Line | EDJ-KQ277 | Human | 10297 | Details Get a Quote |
| APCS Knockout HEK293 Cell Line | EDJ-KQ3397 | Human | 325 | Details Get a Quote |
| ANAPC16 Knockout HEK293 Cell Line | EDJ-KQ7640 | Human | 119504 | Details Get a Quote |
| ANAPC13 Knockout HEK293 Cell Line | EDJ-KQ8262 | Human | 25847 | Details Get a Quote |
| SAPCD2 Knockout HEK293 Cell Line | EDJ-KQ10548 | Human | 89958 | Details Get a Quote |
| APCDD1 Knockout HEK293 Cell Line | EDJ-KQ10610 | Human | 147495 | Details Get a Quote |
| SAPCD1 Knockout HEK293 Cell Line | EDJ-KQ10921 | Human | 401251 | Details Get a Quote |
| ANAPC7 Knockout HEK293 Cell Line | EDJ-KQ11092 | Human | 51434 | Details Get a Quote |
| APCDD1L Knockout HEK293 Cell Line | EDJ-KQ12395 | Human | 164284 | Details Get a Quote |
| APC Knockout HEK293 Cell Line | EDJ-KQ17894 | Human | 324 | Details Get a Quote |
| APC Knockout HeLa Cell Line | EDJ-KQ17952 | Human | 324 | Details Get a Quote |
| ANAPC16 Knockout A-549 Cell Line | EDJ-KQ33000 | Human | 119504 | Details Get a Quote |
| ANAPC16 Knockout HCT 116 Cell Line | EDJ-KQ33001 | Human | 119504 | Details Get a Quote |
| ANAPC16 Knockout HeLa Cell Line | EDJ-KQ33002 | Human | 119504 | Details Get a Quote |
| ANAPC13 Knockout A-549 Cell Line | EDJ-KQ34198 | Human | 25847 | Details Get a Quote |
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