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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. 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, Jul 2008]
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 Wnt Signaling Pathway and Pluripotency and Wnt Signaling Pathway Netpath. Gene Ontology (GO) annotations related to this gene include binding and microtubule binding. An important paralog of this gene is APC2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH05J112737 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 770.4 | +31.4 | 31403 | 3.8 | SP1 ZBTB40 ZBTB6 SMARCE1 POLR2A USF2 FOS MYC CC2D1A NFYC | APC YTHDC2 REEP5 RNU6-482P CBX3P3 NONHSAG041256.2 | |
GH05J112706 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 759.5 | +1.1 | 1063 | 4.1 | ZBTB6 RBPJ POLR2A HCFC1 ZNF133 ELF1 L3MBTL2 MAX ZNF121 MNT | APC NONHSAG041256.2 YTHDC2 SRP19 REEP5 CBX3P3 RNU6-482P ZRSR2P1 | |
GH05J112839 | Promoter | 0.4 | EPDnew | 750.1 | +132.5 | 132513 | 0.1 | MGA | APC SRP19 RNU6-482P CBX3P3 piR-39087 ENSG00000258864 RF00017-4820 | |
GH05J112841 | Promoter | 0.3 | EPDnew | 750.1 | +133.8 | 133752 | 0.1 | APC RNU6-482P CBX3P3 piR-39087 ENSG00000258864 SRP19 RF00017-4820 | ||
GH05J112837 | Promoter | 0.3 | EPDnew | 750.1 | +130.1 | 130099 | 0.1 | piR-39087 APC SRP19 RNU6-482P CBX3P3 NONHSAG041257.2 ENSG00000258864 RF00017-4820 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI,IEA | 8638126 |
GO:0008013 | beta-catenin binding | IEA,IPI | 7890674 |
GO:0008017 | microtubule binding | 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 | TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 11035805 |
GO:0005813 | centrosome | IDA | 11283619 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Misspliced GSK3beta mutants stabilize beta-catenin | ||
2 | Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling | ||
3 | Gastric cancer |
.62
.62
|
|
4 | CDK-mediated phosphorylation and removal of Cdc6 |
.31
|
|
5 | Endometrial cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000281 | mitotic cytokinesis | IMP | 17570218 |
GO:0001708 | cell fate specification | IBA | 21873635 |
GO:0006974 | cellular response to DNA damage stimulus | IDA,IEA | 14728717 |
GO:0007026 | negative regulation of microtubule depolymerization | IMP,IEA | 17192415 |
GO:0007050 | cell cycle arrest | IDA,IEA | 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 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
APC 32 |
|
||||
cow (Bos Taurus) |
Mammalia | APC 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Apc 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
rat (Rattus norvegicus) |
Mammalia | Apc 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
chicken (Gallus gallus) |
Aves | -- 33 |
|
OneToMany | |
APC 32 |
|
||||
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
ManyToMany | |
-- 33 |
|
ManyToMany | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | apc 32 |
|
||
Str.17692 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8436 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | apc 33 32 |
|
OneToMany | |
fruit fly (Drosophila melanogaster) |
Insecta | Apc2 33 34 |
|
ManyToMany | |
Apc 33 34 |
|
ManyToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | apr-1 33 |
|
OneToMany |
SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000470082 | uncertain-significance, Familial adenomatous polyposis 1 | 112,707,548(+) | G/A/C | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
rs1000878850 | likely-benign, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome | 112,801,356(+) | C/A/T | 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant | |
rs1001526630 | uncertain-significance, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 | 112,827,990(+) | G/A/C | coding_sequence_variant, missense_variant | |
rs1001856924 | uncertain-significance, Hereditary cancer-predisposing syndrome | 112,767,203(+) | A/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
rs1003390887 | uncertain-significance, Familial adenomatous polyposis 1, not provided, Hereditary cancer-predisposing syndrome | 112,819,318(+) | C/T | coding_sequence_variant, missense_variant |
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 |
|
|
familial adenomatous polyposis |
|
|
colorectal cancer |
|