Free for academic non-profit institutions. Other users need a Commercial license
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. 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, Dec 2019]
APC (APC Regulator Of WNT Signaling Pathway) is a Protein Coding gene. Diseases associated with APC include Familial Adenomatous Polyposis 1 and Desmoid Disease, Hereditary. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Misspliced GSK3beta mutants stabilize beta-catenin. Gene Ontology (GO) annotations related to this gene include binding and microtubule binding. An important paralog of this gene is APC2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 8638125 |
GO:0008013 | beta-catenin binding | IEA,IPI | 7890674 |
GO:0008017 | microtubule binding | IBA,IDA | 11166179 |
GO:0019887 | protein kinase regulator activity | IDA | 11972058 |
GO:0019901 | protein kinase binding | IPI | 8638126 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000776 | kinetochore | IDA | 11283619 |
GO:0005634 | nucleus | IEA,IDA | 11035805 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 11035805 |
GO:0005794 | Golgi apparatus | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Misspliced GSK3beta mutants stabilize beta-catenin | ||
2 | Gastric cancer |
.62
.62
|
|
3 | CDK-mediated phosphorylation and removal of Cdc6 |
.31
|
|
4 | Pathways of neurodegeneration - multiple diseases | ||
5 | Endometrial cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000281 | mitotic cytokinesis | IEA,IMP | 17570218 |
GO:0001708 | cell fate specification | IBA | 21873635 |
GO:0006974 | cellular response to DNA damage stimulus | IEA,IDA | 14728717 |
GO:0007026 | negative regulation of microtubule depolymerization | IEA,IMP | 17192415 |
GO:0007050 | cell cycle arrest | IEA,IDA | 8521819 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APC 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
APC 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | APC 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Apc 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Apc 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
APC 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | apc 30 |
|
||
Str.17692 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8436 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | apc 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Apc2 31 32 |
|
ManyToMany | |
Apc 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | apr-1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
490204 | Uncertain Significance: Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 1 | 112,827,157(+) |
TG/CA NM_000038.6(APC):c.1458_1459inv (p.Gly487Arg) |
MISSENSE | |
658293 | Uncertain Significance: Familial adenomatous polyposis 1 | 112,838,210(+) |
TT/AA NM_000038.6(APC):c.2616_2617inv (p.Ser873Thr) |
MISSENSE | |
834193 | Uncertain Significance: Familial adenomatous polyposis 1 | 112,838,368(+) |
G/A NM_000038.6(APC):c.2774G>A (p.Ser925Asn) |
MISSENSE | |
834288 | Uncertain Significance: Familial adenomatous polyposis 1 | 112,819,244(+) |
C/G NM_000038.6(APC):c.1212C>G (p.Ile404Met) |
MISSENSE_VARIANT,INTRON | |
834336 | Uncertain Significance: Familial adenomatous polyposis 1 | 112,839,912(+) |
C/T NM_000038.6(APC):c.4318C>T (p.Pro1440Ser) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3570346 | CNV | loss | 25503493 |
esv3606300 | CNV | loss | 21293372 |
nsv1034239 | CNV | gain | 25217958 |
nsv4959 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
familial adenomatous polyposis 1 |
|
|
desmoid disease, hereditary |
|
|
gastric cancer |
|
|
gastric adenocarcinoma and proximal polyposis of the stomach |
|
|
familial adenomatous polyposis |
|
|