Aliases for APC Gene
Aliases for APC Gene
- APC, WNT Signaling Pathway Regulator 2 3 5
- Protein Phosphatase 1, Regulatory Subunit 46 2 3
- Deleted In Polyposis 2.5 3 4
- DP2.5 3 4
- Adenomatosis Polyposis Coli Tumor Suppressor 3
- Truncated Adenomatosis Polyposis Coli 3
- Adenomatous Polyposis Coli Protein 3
- WNT Signaling Pathway Regulator 3
- Adenomatosis Polyposis Coli 2
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 (APC, WNT Signaling Pathway Regulator) is a Protein Coding gene. Diseases associated with APC include Familial Adenomatous Polyposis 1 and Gastric Cancer. Among its related pathways are S33 mutants of beta-catenin arent phosphorylated and DNA Damage Response (only ATM dependent). Gene Ontology (GO) annotations related to this gene include binding and microtubule binding. An important paralog of this gene is APC2.
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.
Additional gene information for APC Gene
- Monarch Initiative
- Search for APC at DataMed
- Search for APC at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APC Gene
Genomics for APC Gene
GeneHancer (GH) Regulatory Elements for APC Gene
Regulatory Element Products
Genomic Locations for APC Gene
- chr5:112,707,498-112,846,239
- (GRCh38/hg38)
- Size:
- 138,742 bases
- Orientation:
- Plus strand
- chr5:112,043,195-112,181,936
- (GRCh37/hg19)
Genomic View for APC Gene
- Cytogenetic band:
-
- 5q22.2 by Ensembl
- 5q22.2 by Entrez Gene
- 5q22.2 by HGNC


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
- B7Z2B6
- 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). Interacts with KHDRBS1. The complex composed, at least, of APC, CTNNB1 and GSK3B interacts with JPT1; the interaction requires the inactive form of GSK3B (phosphorylated at Ser-9) (PubMed:25169422).
- 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.
Other Protein References for APC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for APC (APC)
- Cell Signaling Technology (CST) Antibodies for APC (APC)
- Novus Biologicals Antibodies for APC
-
Abcam antibodies for APC
-
Cloud-Clone Corp. Antibodies for APC
- Invitrogen Antibodies for APC
- antibodies-online: Search results for 208 available APC Antibodies ranked by validation data
- Compare Top APC Antibodies
-
Recommended
- 1 IHC (fro) Antibody (anti-human)
- 1 EIA Antibody (anti-human)
- 6 IHC Antibodies (anti-human)
- 19 IHC (p) Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 104 WB Antibodies (anti-human)
- 1 IP Antibody (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 8 IHC (p) Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 75 WB Antibodies (anti-mouse)
- 1 IP Antibody (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 8 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 45 WB Antibodies (anti-rat)
- 1 IVI Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 1 IHC (fro) Antibody (anti-human)
- 1 EIA Antibody (anti-human)
- 6 IHC Antibodies (anti-human)
- 19 IHC (p) Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 104 WB Antibodies (anti-human)
- 1 IP Antibody (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 8 IHC (p) Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 75 WB Antibodies (anti-mouse)
- 1 IP Antibody (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 8 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 45 WB Antibodies (anti-rat)
- 1 IVI Antibody (anti-human)
- 1 IP Antibody (anti-human)
- GeneTex APC antibody 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
- Search GeneTex for Proteins for APC
Assay Products
-
Cloud-Clone Corp. Assay Kits for APC
No data available for DME Specific Peptides for APC Gene
Domains & Families for APC Gene
Gene Families for APC Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
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.
- 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.
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.
Phenotypes From GWAS Catalog for APC Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 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 |
Phenotypes for APC Gene
- MGI mutant phenotypes for APC:
-
inferred from 27 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- embryo phenotype
- hematopoietic system phenotype
- skeleton phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- no phenotypic analysis
- limbs/digits/tail 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: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) 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
- genomics-online: gRNA clones - Search results for available APC gene related products
- Applied Biological Materials CRISPR for APC
-
Vectors and viruses for KO, Activation, Repression, and more
-
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-218-5p (MIRT441214)
- hsa-mir-106a-5p (MIRT731847)
- hsa-mir-125b-5p (MIRT734087)
- hsa-mir-590-3p (MIRT734374)
miRNA Products
- Search ViGene Biosciences for APC
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for APC
- Browse OriGene Inhibitory RNA Products For APC
- genomics-online: shRNA clones - Search results for available APC gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for APC gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for APC
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APC
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for APC
- genomics-online: cdna clones - Search results for available APC gene related products
- orf clones - Search results for available APC gene related products
- Applied Biological Materials Clones for APC
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
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}.
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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for APC Gene
Pathways & Interactions for APC Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | S33 mutants of beta-catenin arent phosphorylated | ||
2 | Gastric cancer |
.62
.62
|
|
3 | Wnt Signaling Pathway and Pluripotency | ||
4 | CDK-mediated phosphorylation and removal of Cdc6 |
.31
|
|
5 | Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling |
Pathways by source for APC Gene
1 GeneTex pathway for APC Gene
1 Cell Signaling Technology pathway for APC Gene
22 BioSystems pathways for APC Gene
14 KEGG pathways for APC Gene
2 R&D Systems pathways for APC Gene
11 Qiagen pathways for APC Gene
Interacting Proteins for APC Gene
SIGNOR curated interactions for APC Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000281 | mitotic cytokinesis | IMP | 17570218 |
GO:0006461 | protein complex assembly | IDA | 16188939 |
GO:0006974 | cellular response to DNA damage stimulus | IDA,IEA | 14728717 |
GO:0007026 | negative regulation of microtubule depolymerization | IEA,IMP | 17192415 |
GO:0007050 | cell cycle arrest | IDA,IEA | 8521819 |
Transcripts for APC Gene
mRNA/cDNA for APC Gene
- (15) 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
- genomics-online: gRNA clones - Search results for available APC gene related products
- Applied Biological Materials CRISPR for APC
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for APC
- GenScript: Design CRISPR guide RNA sequences for APC
miRNA Products
- Search ViGene Biosciences for APC
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for APC
- Browse OriGene Inhibitory RNA Products For APC
- genomics-online: shRNA clones - Search results for available APC gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for APC gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for APC
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APC
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for APC
- genomics-online: cdna clones - Search results for available APC gene related products
- orf clones - Search results for available APC gene related products
- Applied Biological Materials Clones for APC
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APC Gene
NURSA nuclear receptor signaling pathways regulating expression of APC Gene:
APCSOURCE GeneReport for Unigene cluster for APC Gene:
Hs.158932mRNA Expression by UniProt/SwissProt for APC Gene:
P25054-APC_HUMANEvidence on tissue expression from TISSUES for APC Gene
- Nervous system(4.9)
- Liver(4.2)
- Blood(4.1)
- Intestine(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for APC Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
- brain
- chin
- eye
- eyelid
- face
- forehead
- head
- jaw
- mandible
- maxilla
- mouth
- salivary gland
- skull
- tooth
- breast
- esophagus
- abdominal wall
- adrenal gland
- duodenum
- intestine
- kidney
- large intestine
- liver
- small intestine
- spleen
- stomach
- anus
- rectum
- testicle
- ureter
- urethra
- urinary bladder
- uterus
- arm
- digit
- finger
- foot
- forearm
- hand
- lower limb
- nail
- radius
- toe
- ulna
- upper limb
- blood vessel
- coagulation system
- skin
Primer Products
-
OriGene qPCR primer pairs for APC
- genomics-online: primer clones - Search results for available APC gene related products
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 |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | APC 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
APC 33 |
|
||||
cow (Bos Taurus) |
Mammalia | APC 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Apc 33 16 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
rat (Rattus norvegicus) |
Mammalia | Apc 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
chicken (Gallus gallus) |
Aves | -- 34 |
|
OneToMany | |
APC 33 |
|
||||
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
-- 34 |
|
ManyToMany | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | apc 33 |
|
||
Str.17692 33 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8436 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | apc 33 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Apc 35 34 |
|
||
Apc2 35 34 |
|
||||
worm (Caenorhabditis elegans) |
Secernentea | apr-1 34 |
|
OneToMany |
- Species where no ortholog for APC was found in the sources mined by GeneCards:
-
- 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 | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000470082 | uncertain-significance, Familial adenomatous polyposis 1 | 112,707,548(+) | G/C | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
rs1000878850 | likely-benign, Familial adenomatous polyposis 1 | 112,801,356(+) | C/A/T | coding_sequence_variant, synonymous_variant | |
rs1001526630 | uncertain-significance, Hereditary cancer-predisposing syndrome | 112,827,990(+) | G/A | coding_sequence_variant, missense_variant | |
rs1003390887 | uncertain-significance, Familial adenomatous polyposis 1, not specified, Hereditary cancer-predisposing syndrome | 112,819,318(+) | C/T | coding_sequence_variant, missense_variant | |
rs1003613894 | uncertain-significance, Familial adenomatous polyposis 1 | 112,842,054(+) | C/A/G | 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 |
Additional Variant Information for APC Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APC Gene
Disorders for APC Gene

(41) MalaCards diseases for APC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
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familial adenomatous polyposis 1 |
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gastric cancer |
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desmoid disease, hereditary |
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colorectal cancer |
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familial adenomatous polyposis |
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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:21643010, ECO:0000269 PubMed:27217144, ECO:0000269 PubMed:7661930, 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.
Additional Disease Information for APC
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Database
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 IM … Tomlinson IP (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22 44 58
- Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? (PMID: 19531215) Gómez-Fernández N … Ruiz-Ponte C (BMC medical genetics 2009) 3 22 44 58
- [Polymorphism/loss of heterozygosity of APC gene in GERD-Barrett's metaplasia-dysplasia-adenocarcinoma sequence]. (PMID: 19606680) Mokrowiecka A … Malecka-Panas E (Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2009) 3 22 44 58
- Prevalence of mutations in APC, CTNNB1, and BRAF in Tunisian patients with sporadic colorectal cancer. (PMID: 18992635) Bougatef K … Marrakchi R (Cancer genetics and cytogenetics 2008) 3 22 44 58
- APC and CTNNB1 mutations are rare in sporadic ependymomas. (PMID: 16843107) Onilude OE … Clifford SC (Cancer genetics and cytogenetics 2006) 3 22 44 58
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Sources for APC Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
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- (27) AceView
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- (47) Atlas
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- (52) HUGE
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- (54) Leiden
- (55) miRBase
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- (58) PubMed
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- (65) Sino Biological
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- (68) Cloud-Clone Corp.
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- (70) Proteopedia
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- (74) GeneGo (Thomson Reuters)
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