Aliases for APC Gene
Aliases for APC Gene
External Ids for APC Gene
- HGNC: 583
- Entrez Gene: 324
- Ensembl: ENSG00000134982
- OMIM: 611731
- UniProtKB: P25054
Previous GeneCards Identifiers for APC Gene
- GC05P111687
- GC05P112537
- GC05P112074
- GC05P112149
- GC05P112101
- GC05P107222
Summaries for APC Gene
-
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]
GeneCards Summary for APC Gene
APC (Adenomatous Polyposis Coli) is a Protein Coding gene. Diseases associated with APC include Adenomatous Polyposis Coli and Desmoid Disease, Hereditary. Among its related pathways are HTLV-I infection and ERK Signaling. GO annotations related to this gene include binding and microtubule binding. An important paralog of this gene is ENSG00000258864.
UniProtKB/Swiss-Prot for APC Gene
-
Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APC Gene
Genomics for APC Gene
Regulatory Elements for APC Gene
Enhancers for APC Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around APC on UCSC Golden Path with GeneCards custom track
Promoters for APC Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around APC on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the APC gene promoter:
Regulatory Element Products
Genomic Location for APC Gene
- Chromosome:
- 5
- Start:
- 112,707,498 bp from pter
- End:
- 112,846,239 bp from pter
- Size:
- 138,742 bases
- Orientation:
- Plus strand
Genomic View for APC Gene
Genes around APC on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q22.2 by Ensembl
- 5q21-q22 by Entrez Gene
- 5q21-q22 by HGNC
APC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for APC Gene
Proteins for APC Gene
-
Protein details for APC Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P25054-APC_HUMAN
- Recommended name:
- Adenomatous polyposis coli protein
- Protein Accession:
- P25054
- D3DT03
- Q15162
- Q15163
- Q93042
Protein attributes for APC Gene
- Size:
- 2843 amino acids
- Molecular mass:
- 311646 Da
- Quaternary structure:
-
- Forms homooligomers and heterooligomers with APC2. Interacts with DIAPH1 and DIAPH2 (By similarity). Interacts with PDZ domains of DLG1 and DLG3. Associates with catenins. Binds axin. Interacts with ARHGEF4 (via N-terminus). Interacts with MAPRE1 (via C-terminus); probably required for APC targeting to the growing microtubule plus ends. Interacts with MAPRE2 and MAPRE3 (via C-terminus). Found in a complex consisting of ARHGEF4, APC and CTNNB1. Interacts with SCRIB; may mediate APC targeting to adherens junctions of epithelial cells. Interacts with SPATA13 (via N-terminus and SH3 domain). Interacts with ASAP1 (via SH3 domain). Found in a complex composed of MACF1, APC, AXIN1, CTNNB1 and GSK3B (By similarity). Interacts at the cell membrane with AMER1 and AMER2 (via ARM repeats).
- Miscellaneous:
-
- APC mutations have led to some interesting observations. (1) the great majority of the mutations found to date would result in truncation of the APC product. (2) almost all the mutations have occurred within the first half of the coding sequence, and somatic mutations in colorectal tumors are further clustered in a particular region, called MCR (mutation cluster region). (3) most identified point mutations in the APC gene are transitions from cytosine to other nucleotides. (4) the location of germline mutations tends to correlate with the number of colorectal polyps in FAP patients. Inactivation of both alleles of the APC gene seems to be required as an early event to develop most adenomas and carcinomas in the colon and rectum as well as some of those in the stomach.
Three dimensional structures from OCA and Proteopedia for APC Gene
Protein Expression for APC Gene
Post-translational modifications for APC Gene
- Phosphorylated by GSK3B.
- Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is facilitated by Axin. Deubiquitinated by ZRANB1/TRABID.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for APC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for APC
- R&D Systems Antibodies for APC (APC)
- Cell Signaling Technology (CST) Antibodies for APC (APC)
- Novus Biologicals Antibodies for APC
-
Cloud-Clone Corp. Antibodies for APC
- Invitrogen Antibodies for APC
- antibodies-online Antibodies for APC: See all 176
- GeneTex APC antibody for APC
-
Custom Antibody ServicesProSci Antibodies for APC
-
Santa Cruz Biotechnology (SCBT) Antibodies for APC
Protein Products
-
OriGene Purified Proteins for APC
- Search Origene for MassSpec and Protein Over-expression Lysates for APC
- Origene Custom Protein Services for APC
-
Cloud-Clone Corp. Proteins for APC
- antibodies-online Proteins for APC: See all 8
- Search antibodies-online for peptides
- Search GeneTex for Proteins for APC
No data available for DME Specific Peptides for APC Gene
Domains & Families for APC Gene
Gene Families for APC Gene
Protein Domains for APC Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for APC Gene
Graphical View of Domain Structure for InterPro Entry
P25054UniProtKB/Swiss-Prot:
APC_HUMAN :- The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.
- Belongs to the adenomatous polyposis coli (APC) family.
- Contains 7 ARM repeats.
- Domain:
-
- The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.
- Family:
-
- Belongs to the adenomatous polyposis coli (APC) family.
- Similarity:
-
- Contains 7 ARM repeats.
Function for APC Gene
Molecular function for APC Gene
- GENATLAS Biochemistry:
- multidomain protein,binding beta-catenin and regulating free beta-catenin level,involved in cell adhesion and active cell migration,mutated in adenomatous polyposis coli,colon and rectum carcinoma non polyposis,modulating the frequency and classes of mutation leading to colon polyps
- UniProtKB/Swiss-Prot Function:
- Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008017 | microtubule binding | IEA,IDA | 11166179 |
| GO:0045295 | gamma-catenin binding | IPI | 7890674 |
Phenotypes for APC Gene
- MGI mutant phenotypes for APC:
-
inferred from 27 alleles
- cellular phenotype
- mortality/aging
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- liver/biliary system phenotype
- normal phenotype
- immune system phenotype
- cardiovascular system phenotype
- integument phenotype
- growth/size/body region phenotype
- hematopoietic system phenotype
- tumorigenesis
- homeostasis/metabolism phenotype
- digestive/alimentary phenotype
- embryo phenotype
- nervous system phenotype
- vision/eye phenotype
- muscle phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- no phenotypic analysis
- hearing/vestibular/ear phenotype
- GenomeRNAi human phenotypes for APC:
-
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased viability in esophageal squamous lineage
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased POU5F1-GFP protein expression
- Increased shRNA abundance (Z-score > 2)
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Increased shRNA abundance
- Decreased shRNA abundance (Z-score < -2)
- Upregulation of Wnt pathway
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Downregulation of NFkappaB pathway
Animal Models for APC Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for APC
-
ViGene Biosciences lentiviral particle packaged cDNA for APC gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APC gene
- Search ViGene Biosciences for APC
CRISPR Products
-
OriGene CRISPR knockouts for APC
-
Santa Cruz Biotechnology (SCBT) CRISPR for APC
- GenScript: Design CRISPR guide RNA sequences for APC
miRNA for APC Gene
- miRTarBase miRNAs that target APC
-
- hsa-mir-155-5p (MIRT001207)
- hsa-mir-135b-5p (MIRT001940)
- hsa-mir-135a-5p (MIRT001941)
- hsa-mir-210-3p (MIRT003183)
- hsa-mir-27a-3p (MIRT006221)
- hsa-mir-106b-5p (MIRT007071)
- hsa-mir-215-5p (MIRT024577)
- hsa-mir-192-5p (MIRT026886)
- hsa-mir-21-5p (MIRT031054)
- hsa-mir-186-5p (MIRT045069)
- hsa-mir-148a-3p (MIRT048033)
- hsa-mir-663a (MIRT053348)
- hsa-mir-129-5p (MIRT121568)
- hsa-mir-142-3p (MIRT165080)
- hsa-mir-135a-5p (MIRT438099)
- hsa-mir-218-5p (MIRT441214)
miRNA Products
- Search ViGene Biosciences for APC
Clone Products
- OriGene clones in human for APC
- OriGene ORF clones in human,rat for APC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for APC
Cell Line Products
-
Horizon Cell Lines for APC
-
ViGene Biosciences adenoviral particle packaged cDNA for APC gene
-
ViGene Biosciences lentiviral particle packaged cDNA for APC gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APC gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12377) for APC
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for APC Gene
Localization for APC Gene
Subcellular locations from UniProtKB/Swiss-Prot for APC Gene
- Cell junction, adherens junction. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, ruffle membrane. Cytoplasm. Cell membrane. Note=Associated with the microtubule network at the growing distal tip of microtubules (PubMed:19632184). Accumulates in the lamellipodium and ruffle membrane in response to hepatocyte growth factor (HGF) treatment (PubMed:19151759). The MEMO1-RHOA-DIAPH1 signaling pathway controls localization of the phosphorylated form to the cell membrane (PubMed:20937854). {ECO:0000269 PubMed:19151759, ECO:0000269 PubMed:19632184, ECO:0000269 PubMed:20937854}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 5 |
| plasma membrane | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 11035805 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005874 | microtubule | IEA | -- |
| GO:0005923 | bicellular tight junction | IDA | 18502210 |
Pathways & Interactions for APC Gene
More details on SuperPathways for APC| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | S45 mutants of beta-catenin arent phosphorylated | ||
| 2 | Apoptotic cleavage of cellular proteins |
.32
|
|
| 3 | Wnt Signaling Pathway (WikiPathways) | ||
| 4 | Endometrial cancer | ||
| 5 | Regulation of actin cytoskeleton |
Pathways by source for APC Gene
1 GeneTex pathway for APC Gene
1 Cell Signaling Technology pathway for APC Gene
17 BioSystems pathways for APC Gene
10 KEGG pathways for APC Gene
2 R&D Systems pathways for APC Gene
11 Qiagen pathways for APC Gene
Interacting Proteins for APC Gene
Selected Interacting proteins:
P25054-APC_HUMAN
ENSP00000257430
for APC Gene via
MINT
STRING
UniProtKB
I2D
SIGNOR curated interactions for APC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001708 | cell fate specification | IBA | -- |
| GO:0006461 | protein complex assembly | IDA | 16188939 |
| GO:0006921 | cellular component disassembly involved in execution phase of apoptosis | TAS | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IEA,IDA | 14728717 |
| GO:0007050 | cell cycle arrest | IEA,IDA | 8521819 |
Transcripts for APC Gene
mRNA/cDNA for APC Gene
- (3) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (445) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for APC Gene
- Adenomatous polyposis coli:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for APC
-
Santa Cruz Biotechnology (SCBT) CRISPR for APC
- GenScript: Design CRISPR guide RNA sequences for APC
miRNA Products
- Search ViGene Biosciences for APC
Clone Products
- OriGene clones in human for APC
- OriGene ORF clones in human,rat for APC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for APC
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12377) for APC
| 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: |
Expression for APC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Myelinating Oligodendrocyte Cells Spinal Cord White Matter
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Spinal Cord (Nervous System)
- Myelinating Oligodendrocyte Cells Spinal Cord White Matter
mRNA differential expression in normal tissues according to GTEx for APC Gene
This gene is overexpressed in Brain - Amygdala (x5.6) and Brain - Hippocampus (x5.3).
This gene is overexpressed in Vitreous humor (37.5) and Fetal Brain (11.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for APC Gene
SOURCE GeneReport for Unigene cluster for APC Gene Hs.158932
mRNA Expression by UniProt/SwissProt for APC Gene
P25054-APC_HUMAN
Tissue specificity:
Expressed in a variety of tissues.
Primer Products
-
OriGene qPCR primer pairs for APC
No data available for Protein tissue co-expression partners for APC Gene
Orthologs for APC Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | APC 35 |
|
||
| APC 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | APC 35 |
|
||
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Apc 35 |
|
||
| Apc 16 |
|
||||
| Apc 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | APC 35 |
|
||
| APC 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Apc 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 36 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 36 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | APC 35 |
|
||
| -- 36 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 36 |
|
ManyToMany | |
| -- 36 |
|
ManyToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | apc 35 |
|
||
| Str.17692 35 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.8436 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | apc 35 |
|
||
| apc 36 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Apc 37 |
|
|
|
| Apc2 37 |
|
|
|||
| Apc 36 |
|
ManyToMany | |||
| Apc2 36 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | apr-1 36 |
|
OneToMany |
- Species with no ortholog for APC:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for APC Gene
Paralogs for APC Gene
(2) SIMAP similar genes for APC Gene using alignment to 26 proteins:
- APC_HUMAN
- A1YIQ7_HUMAN
- A1YIX6_HUMAN
- A1YR11_HUMAN
- A5HB94_HUMAN
- A5HB95_HUMAN
- A5HB96_HUMAN
- A5HB97_HUMAN
- A5JUM6_HUMAN
- A5JUM7_HUMAN
- A5JUM8_HUMAN
- A5JUM9_HUMAN
- B7Z2B6_HUMAN
- D6RFL6_HUMAN
- E7EMH9_HUMAN
- E9PFT7_HUMAN
- Q16097_HUMAN
- Q16098_HUMAN
- Q5EBR8_HUMAN
- Q5EBR9_HUMAN
- Q5EEK4_HUMAN
- Q7Z2Q8_HUMAN
- Q9HAW6_HUMAN
- Q9P119_HUMAN
- Q9UM98_HUMAN
- R4GMU6_HUMAN
Variants for APC Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_005032 | Familial adenomatous polyposis (FAP) | ||||
| rs137854567 | Familial adenomatous polyposis (FAP) | 112,819,272(+) | AGATA(C/T)GCGCT | reference, missense | |
| VAR_005034 | Familial adenomatous polyposis (FAP) | ||||
| VAR_005035 | Gastric cancer (GASC) | ||||
| VAR_005036 | Colorectal carcinoma |
Residual Variation Intolerance Score:
0.193% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.18;
61.78% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for APC Gene
- Human Gene Mutation Database (HGMD)
- APC
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APC Gene
Disorders for APC Gene
(50) MalaCards diseases for APC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adenomatous polyposis coli |
|
|
| desmoid disease, hereditary |
|
|
| gastric cancer, somatic |
|
|
| colorectal cancer |
|
|
| familial adenomatous polyposis |
|
Search APC in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
APC_HUMAN- Familial adenomatous polyposis (FAP) [MIM:175100]: A cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years. {ECO:0000269 PubMed:10470088, ECO:0000269 PubMed:1338691, ECO:0000269 PubMed:1338764, ECO:0000269 PubMed:1338904, ECO:0000269 PubMed:1651563, ECO:0000269 PubMed:7833149, ECO:0000269 PubMed:7833931, ECO:0000269 PubMed:8990002}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. Note=The gene represented in this entry may be involved in disease pathogenesis.
- Hepatocellular carcinoma (HCC) [MIM:114550]: A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Note=The gene represented in this entry may be involved in disease pathogenesis.
- Hereditary desmoid disease (HDD) [MIM:135290]: Autosomal dominant trait with 100% penetrance and possible variable expression among affected relatives. HDD patients show multifocal fibromatosis of the paraspinal muscles, breast, occiput, arms, lower ribs, abdominal wall, and mesentery. Desmoid tumors appears also as a complication of familial adenomatous polyposis. {ECO:0000269 PubMed:10782927, ECO:0000269 PubMed:8940264}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269 PubMed:10666372}. Note=The gene represented in this entry may be involved in disease pathogenesis.
- Mismatch repair cancer syndrome (MMRCS) [MIM:276300]: An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients. {ECO:0000269 PubMed:7661930}. Note=The gene represented in this entry may be involved in disease pathogenesis.
Relevant External Links for APC
No data available for Genatlas for APC Gene
Publications for APC Gene
- The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. (PMID: 9724771) Frayling I.M. … Tomlinson I.P.M. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23 48 67
- Beta-catenin degradation mediated by the CID domain of APC provides a model for the selection of APC mutations in colorectal, desmoid and duodenal tumours. (PMID: 18854359) Kohler E.M. … Schneikert J. (Hum. Mol. Genet. 2009) 3 23
- MGMT and MLH1 promoter methylation versus APC, KRAS and BRAF gene mutations in colorectal cancer: indications for distinct pathways and sequence of events. (PMID: 19164452) de Vogel S. … van Engeland M. (Ann. Oncol. 2009) 3 23
- Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? (PMID: 19531215) GA^mez-FernA!ndez N. … Ruiz-Ponte C. (BMC Med. Genet. 2009) 3 23
- [Polymorphism/loss of heterozygosity of APC gene in GERD-Barrett's metaplasia-dysplasia-adenocarcinoma sequence]. (PMID: 19606680) Mokrowiecka A. … Malecka-Panas E. (Pol. Merkur. Lekarski 2009) 3 23
Products for APC Gene
- R&D Systems Antibodies for APC (APC)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for APC
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for APC
- Search Origene for MassSpec and Protein Over-expression Lysates for APC
- Origene Custom Protein Services for APC
- Origene siRNA, shRNA, mouse_rna, rat_shrna, and RNAi products in human, mouse, rat for APC
- Browse OriGene Inhibitory RNA Products For APC
- OriGene qPCR primer pairs for APC
- OriGene CRISPR knockouts for APC
- OriGene clones in human for APC
- OriGene ORF clones in human,rat for APC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- GenScript: Next-day shipping cDNA clones in your preferred vector
- GenScript Custom Purified and Recombinant Proteins Services for APC
- GenScript Custom Assay Services for APC
- GenScript Custom overexpressing Cell Line Services for APC
- GenScript: Design CRISPR guide RNA sequences for APC
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for APC
- Cell Signaling Technology (CST) Antibodies for APC (APC)
- Search for Antibodies & Assays
- Novus Biologicals Antibodies for APC
- Novus Biologicals proteins and lysates for APC
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for APC
- Cloud-Clone Corp. Proteins for APC
- Cloud-Clone Corp Assay Kits for APC
- Taconic Biosciences Mouse Models for APC
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Addgene plasmids for APC
- antibodies-online Antibodies for APC: See all 176
- antibodies-online Kits for APC: See all 16
- antibodies-online Proteins for APC: See all 8
- Search antibodies-online for peptides
- GeneTex APC antibody for APC
- Search GeneTex for Proteins for APC
- ViGene Biosciences adenoviral particle packaged cDNA for APC gene
- ViGene Biosciences lentiviral particle packaged cDNA for APC gene
- ViGene Biosciences lentiviral particle packaged cDNA for APC gene
- ViGene Biosciences ready-to-package AAV shRNAs for APC gene
- ViGene Biosciences ready-to-package AAV shRNAs for APC gene
- ViGene Biosciences ready-to-package AAV shRNAs for APC gene
- Search ViGene Biosciences for APC
- Search ViGene Biosciences for APC
- Santa Cruz Biotechnology (SCBT) Antibodies for APC
- Search Santa Cruz Biotechnology (SCBT) for APC siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for APC
- Custom Antibody ServicesProSci Antibodies for APC
- Horizon Cell Lines for APC
Sources for APC Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
- (125) DGIdb
- (126) ClinicalTrials
- (127) FDA Approved Drugs
- (128) RVIS
- (129) SIGNOR
- (130) diseasecard
- (131) NIH Rare Diseases
- (132) Orphanet
- (133) UMLS
- (134) GTR
- (135) Disease Ontology
- (136) Genetics Home Reference
- (137) MeSH
- (138) MedlinePlus
- (139) CDC
- (140) NINDS
- (141) NCBI Bookshelf
- (142) ClinVar
- (143) Gene Damage Index
- (144) ViGene Biosciences
- (145) HPO
- (146) UDN
- (147) VISTA
- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon